generations - national ataxia foundation · generations...

GenerationsThe Official Publication of the National Ataxia Foundation

Volume 41, Number 3Fall 2013

Nobel Prize winner Alert Szent-Gyorgyi oncesaid “Research is to see what everybody has seenand think what nobody has thought.” In thisissue of Generations you will see the promisingresults of important and innovative ataxiaresearch studies that were conducted in fiscal year2012 bymany of the world’s leading and cutting-edge ataxia scientists.Much of the funds to support these importantataxia research studies were made possible byyou: our generous donors who contributed tothe 2011 NAF Annual Ataxia Research Drive.

Through your support, 19 important researchstudies were funded. The 2012 NAF AnnualAtaxia Research Drive saw additional supportwhich enabledNAF to fund $1million of prom-ising ataxia research studies around the world.We ask for your continued support of thisyear’s National Ataxia Foundation AnnualAtaxia Research Drive, “Research ... FindingAnswers.” NAF is currently reviewing 81 ataxiaresearch applications from 14 countries and fivecontinents. The research focus of these applica-tions include many forms of SCAs, Friedreich’sataxia, Sporadic ataxia, AOA, Episodic ataxia,A-T, new gene discoveries, and others. Withyour help, the most promising of these studieswill be funded in late December for fiscal year2014.Alert Szent-Gyorgyi also said, “Research isfour things: brains with which to think, eyes withwhich to see, machines with which to measure,and fourth, money.” Three of these parts wehave at various leading institutions around theworld. The fourth part, money, is what weneed now. Funds raised through the 2013 NAFAnnual Ataxia ResearchDrive will tremendouslyhelp in our efforts to support the best science inthe world. Each research dollar brings us closer

Continued on page 3

National Ataxia FoundationAnnualResearchDriveBeginsOctober 15

SPECIAL EXPANDED EDITION

Inside This Issue• CoRDS Registry information appears onpage 4

• Research summaries of grants funded byNAF appear on pages 5-24

• Humor and Personal Stories can befound on pages 13, 26-31 and 35

• Four Components of Physical Therapypart one begins on page 32

• A recap of the ASENT Annual Meetingappears on page 36

•More information about the 2014 AMMin Las Vegas begins on page 37

Gen_1303_01-12.qxp:Layout 1 9/25/13 12:24 PM

Generations Fall 2013

Generations Staff:Julie Braun ...................................... Financial DirectorSue Hagen ............................ Patient Services DirectorJoan Jensen................................ Outreach CoordinatorMike Parent ..................................... Executive DirectorLori Shogren...................... Special Projects Coordinator

Design, Production and Printing ............... Leader Printing

DisclaimerThe National Ataxia Foundation does not endorse products, therapies, services, or manufacturers. Those thatare mentioned inGenerations are included only for your information. The NAF assumes no liability whatsoeverfor the use or contents of any product or service mentioned in the newsletter.

Please direct correspondence to:National Ataxia Foundation2600 Fernbrook Lane, Suite 119Minneapolis, MN 55447-4752

Phone: (763) 553-0020FAX: (763) 553-0167Internet: www.ataxia.orgE-mail: [email protected]

Table of ContentsAnnual Membership Meeting (AMM)

Meet Ataxia Investigators at the 2014 AMM ... 3Complimentary Las Vegas Guide Book ......... 302014 AMM Information .......................... 37-40AMM Exhibitors and Sponsors Wanted ......... 40Silent Auction ............................................. 40NAF Travel Grant ProgramNeeds Your Support .................................... 55

Research

CoRDS Registry ............................................ 4Pioneer SCA Translational Grant Awards .... 5 -10SCA Study .................................................. 10Young InvestigatorResearch Grant Award ............................ 11-12Research Grant Awards .......................... 12-18Young Investigator forSCA Research Awards ............................ 19-23Tissue Donation Program ............................ 19Friedreich Ataxia Study ................................ 23Research Fellowship Award .......................... 24Seeking Patients with SCA ........................... 35

Articles

From the Desk of the Executive Director ....... 25

Articles (cont.)

Four Components of Physical Therapy ...... 32-35ASENT Annual Meeting ................................ 36

Membership Topics

CFC Number ................................................. 8Matching Gifts ............................................ 16Remembering NAF in Your Will ..................... 18Good Search ............................................... 21iSearchiGive ............................................... 21NAF Merchandise .................................. 28-29Chapter and Support Group News ........... 41-44NAF Directory of Chapters, SupportGroups and Ambassadors....................... 45-49Calendar of Events ................................ 50-53Memorials and In Your Honor ................. 54-55IAAD: How Did You Participate? .................... 55

Personal Stories & Poems

A Child’s Perspective ................................... 13Keep Going ................................................. 26Anatomy of a Job Interview .......................... 27The End of a Career .................................... 30Tripped Up by Ataxia .................................... 31How Big Is a Sparrow’s Cerebellum? ............ 35

The deadline for the Winter issue of Generations is November 1.

Generations is published by the National Ataxia Foundation, Inc., Minneapolis, MN.Copyright 2013 by the National Ataxia Foundation, Inc. All rights reserved.

Please contact us for permission to reprint or post on the Internet any article from Generations.

Gen_1303_01-12.qxp:Layout 1 9/25/13 12:24 PM Page 2

to finding answers to end ataxia.Your 2013 NAF Annual Ataxia ResearchDrive letter will be in the mail in mid-Octoberor you may support the ataxia research driveon-line at www.ataxia.org from October 15 –December 15.The National Ataxia Foundation is truly

thankful to you for your continued generosity.In this issue ofGenerations youwill see researchsummaries of studies that were funded for fiscalyear 2012. It goes without saying that many ofthese important ataxia research studies would nothave been funded without the help and generos-ity of our donors who supported the annualataxia research drive. Your support is far reachingin continuing NAF’s efforts to support promis-ing world-wide ataxia research.

Fall 2013 Generations

Research DriveContinued from page 1

�

�

The Fifth Ataxia Investigators Meeting, “AIM2014: Advancing Toward Therapeutics,” willassemble an international roster of ataxia investi-gators to focus on the most recent scientificadvances and emerging translational approachestoward therapy. This meeting will take place justprior to the AnnualMembershipMeeting of theNational Ataxia Foundation.One of the objectives of the AIM 2014 is topromote junior investigators by giving them anopportunity to present their work and to meetpersons with ataxia so they can see firsthand theimpact of their ataxia research.Dr. Harry Orr, NAF’s Research Director andDirector of AIM 2014, stated “Many younginvestigators have not met patients with ataxia. Itcan be galvanizing to one’s career to participate inquestion and answer sessions with patients andto hear from them how the disease impacts themand how much they appreciate their researchefforts.”To accomplish that objective, a Junior Investi-gator/Patient Poster Session has been scheduledwithin the investigator meeting. Annual meet-ing attendees canmeet investigators from aroundthe world on Thursday, March 20, 2014 from5:15 p.m. – 6:15 p.m. to view their scientificresearch posters. We welcome persons withataxia and family members to engage in thisopportunity to interact with ataxia researchers.We encourage you to make your travel

arrangements so that you can arrive in Las Vegasearly enough on Thursday, March 20, 2014 tohave the opportunity to view the scientificposters and meet these researchers who areearnestly seeking to better understand the diseasemechanism and translate that knowledge intotherapies and treatments for ataxia.

Meet Ataxia Investigators at the 2014 AMM

Learning more about ataxia can be fun!

Vehicle DonationThe donation of your vehicle to the

National Ataxia Foundation will help supportthe important work that is being done onbehalf of all who are affected by ataxia.To donate your car, truck, motorcycle or

motor home, please call 1-800-240-0160or go online at donateacar.com. Your vehiclewill be picked up at your home, office orother place that you designate. Be sure tohave the certificate of title with the vehicle.


http://www.donateacar.com/


The Coordination of Rare Diseases at Sanford(CoRDS) national rare disease registry is hostinga patient registry for individuals diagnosed withAtaxia. Individuals who are undiagnosed but atrisk for ataxia are also eligible to enroll.

A registry is a database of information about in-dividuals with a specific condition. The CoRDSregistry provides a secure way for participants tomake their basic medical history known toresearchers without sacrificing their privacy.

Participation is expected to help accelerate re-search focused on all forms of ataxia by providinga resource throughwhich researchers can identifypeople who may be interested in participating inresearch studies. If participants choose to sharetheir de-identified information with researchers,they may be contacted about opportunities toparticipate in research. These could includenatural history studies, clinical trials or otherresearch projects.

Participation is voluntary and those who enrollmay withdraw at any time. Participants canupdate their information at any time, butCoRDS will contact participants annually toupdate their information.

Who can participate: Anyone diagnosedwith any type of Ataxia or those who are undi-agnosed but at risk for ataxia.

How to enroll: If you want to enroll in

CoRDS, first fill out the CoRDSRegistry format www.sanfordresearch.org/cordsregistryform andindicate whether you prefer to complete enroll-ment online or by mail. You can also indicatewho you were referred by (name of organiza-tion/provider) and that youwould like to join thedisease-specific registry for the National AtaxiaFoundation (NAF).

If you choose to enroll online, CoRDS willsend you an email that includes a username andpassword to log-in to the secure site and com-plete the necessary forms. For those who prefernot to enroll online, CoRDS will send theenrollment forms in the mail. Completing theforms take approximately 20 minutes and youwill not be enrolled in the registry until you havecompleted the forms.

For more information on CoRDS and/orenrollment, visit www.sanfordresearch.org/cords to:• view a CoRDS enrollment tutorial;• view the CoRDS FAQ page (click on“Participants”);

Questions for CoRDS? Contact CoRDS [email protected] or (605) 312-6423.

Questions for NAF? Contact the NationalAtaxia Foundation at [email protected] or (763)553-0020.

Join theCoRDSRegistry fortheNational Ataxia Foundation

�



Pioneer SCATranslational Grant Award

Development of Ataxin-7 ASOKnock-DownTherapy toTreat SCA7By Albert La Spada, MD, PhDUniversity of California, San Diego

The following is a research summary of a grant funded by NAF for fiscal year 2012.

The purpose of this project is to develop a treat-ment for SCA7 patients who are going blind dueto the retinal degeneration that occurs in thisdisease. In this study, we are taking advantage ofa powerful approach that was recently developedto treat neurodegenerative diseases due to theproduction of a toxic protein. Years of researchhave established that if we can reduce the amountof the toxic protein being produced, then we canstem progression of a neurodegenerative disease,or even reverse it. One successful approach hasbeen to generate an “antisense oligonucleotide”or ASO that is perfectly complementary tothe disease gene RNA, and will hybridize withthe single-stranded RNA to create a duplexmolecule that is recognized by RNase H anddestroyed. In this way, the disease gene RNA isreduced, resulting in less RNA translation, andtherefore less protein. SCA7 retinal degenerationoffers a unique opportunity to develop ataxin-7ASOs and then inject them into the eyes ofpatients to potentially treat the visual loss thatthese patients suffer. Importantly, ISIS Pharma-ceuticals, our industrial collaborator, has experi-ence creating ASO therapy for ocular disease,with one drug approved by the FDA and iscurrently in use in patients with CMV retinitis.In this project, we are creating ataxin-7 ASOs,validating them for use in mice, and performingpreclinical trials in SCA7mice to determine if wecan prevent blindness, or retard its progression.When we began this project, we had identifiedlead ASOs that successfully knock-down ataxin-7 in the brains of mice.We have taken these leads

and attempted to inject them into the retinas ofmice to confirm that they can knock-downataxin-7 in the mouse eye. While the techniquefor delivery is difficult in the mouse (because theeye is small), wehave performed itsuccessfully nu-merous times nowwithout complica-tions. However,despite successfuldelivery, our initialleads did not pos-sess sufficient po-tency to achieve arobust knock-down of ataxin-7upon ocular injec-tion in validation trials performed in mice. Afterfurther consultation with ISIS, we have turnedto a more potent ASO formulation, based uponthe latest chemistry, known as “cET chemistry.”Without explaining the chemical approach indetail, this strategy yields an ASOwith increasedbinding affinity, resulting in greater potency. Theissue here is to achieve a potent, non-toxic ASOdrug compound, as delivery to the eye allows foronly small quantities of material to be injected.To further improve potency, we are now creating16-mer ASOs with a 3-10-3 structure, anothermodification that yields greater potency.We recently completed a large screen of

Dr. Albert La Spada

Continued on page 6


ataxin-7 cET – 3-10-3 ASOs, and we have asatisfactory number of promising leads (~12).These leads are being re-screened in the mousebrain to identify the best ASOs to move forwardinto the mouse eye. After we achieve successfulknock-down of ataxin-7 in the mouse eye, thenwe can move forward with our final aim to testif the ataxin-7 ASO is effective in treating SCA7retinal degeneration. As ASOs have beenapproved for clinical trials in human patients withALS andHuntington’s disease, we are confidentthat FDA approval for use in SCA7 patients willbe straightforward, if we are successful. Indeed, avery recent publication in the journalNeuron hasjust shown how effective ASO therapy was in amousemodel of Huntington’s disease; hence, weare confident that we are on the right track withthis approach. Furthermore, we have just com-pleted a study in SCA7 mice where we “turnedoff” the expression of the mutant gene, andfound that uncoordinated mice with motorproblems fully regained their motor function,underscoring that reduced expression of diseaseprotein should prevent disease progression, andthat recovery of function may even be possiblein these diseases.The other strategy that we are taking utilizessingle-stranded short-interfering RNAs (ss-siR-NAs), and in collaboration with ISIS Pharma-ceuticals, Inc. and Dr. David Corey, we havescreened and identified a set of CAG targetingss-siRNAs for use in the SCA7 knock-in mousemodel, that develops a rapidly progressive retinaldegeneration phenotype with mice going blindby ~12 weeks of age. One key advantage to theCAG ss-siRNA approach is that this strategy hasbeen shown to preferentially target the mutantallele, since the CAG repeat is much longer onthe mutant allele than it is on a normal allele.(Recall that SCA7 is a dominant disease; hence,patients carry one mutant allele and one normalallele.) With this approach, knock-down of the

normal allele is minimal, as we have validated infibroblast cell lines taken from patients where wehave used Western blot analysis to quantify theprotein expression levels of ataxin-7. As CAGss-siRNAs promote reduced translation of theirtargets without promoting substantial RNAdegradation, measurement of protein expressionis necessary to gauge the response to the differentoligonucleotide ss-siRNA “drugs” that we aretesting. At this point, we are confident that CAGss-siRNAs are capable of preferentially knockingdown mutant ataxin-7 protein expression, andwe are now gearing up to do a preclinical trial inSCA7 knock-in mice to test if we can preventblindness by intravitreal injection of eitherataxin-7 ASO or CAG ss-siRNA.We will soon commence this preclinical trialand will for now test a single drug. If we canobtain additional funding, possibly through thisPioneer Award mechanism, we will expand thenumber of oligonucleotide drugs to be tested inpreclinical trials in mice in the future. If weachieve successful results in SCA7 mice, we willbe in a position to approach the FDA for plan-ning an IND to initiate a clinical trial in SCA7patients.As we are optimistic that this therapeutic strat-egy has a good chance of preclinicalsuccess, we have already partnered with theNational Eye Institute (NEI) of the NIH toorganize a clinical study of SCA7. This five yearstudy, which will be led by Dr. Brian Brooks atthe NEI, will evaluate progression of SCA7retinal disease to establish the best examinationtools for following SCA7 vision loss in patients.These examination tools will then be selected foruse in subsequent clinical trials that will testoligonucleotide drugs, coming out of ourpreclinical testing pipeline, in human SCA7patients.We appreciate the support provided last yearfor this critical therapy development project, andwe remain hopeful that additional support willbe possible in the near future to keep this bench-to-bedside research on track.


La Spada Research SummaryContinued from page 5

�




Exploring the TherapeuticPotential of VEGF in SCA1

By Puneet Opal, MD, PhDNorthwestern University, Chicago, IL


SCA1 is a dominantly inherited neurodegen-erative disorder characterized by progressivemotor incoordination. A CAG trinucleotide re-peat expansion in the SCA1 gene results in a glu-tamine repeat expansion in the encoded protein,ataxin-1 (the normal length of repeats rangesfrom 6-40). In SCA1, cerebellar Purkinje cells arethe first neurons to succumb, accounting formotor incoordination (ataxia) as the presentingsymptom. Eventually, other neuronal groups areaffected, leading to mild cognitive and dysexec-utive symptoms. Patients eventually die frombrainstem dysfunction with ensuing aspirationand respiratory complications.Our grant focused on exploring the potentialof using VEGF as a therapeutic agent in SCA1.There were two aims of the grant, and we havedescribed progress for both the aims:

Aim 1: Explore the possibility of infusingvascular endothelial growth factor (VEGF)as a treatment option in SCA1.We have made important progress in this aim.In our last progress report, we reported that wehad published a manuscript describing thesefindings and acknowledged the support of theNational Ataxia Foundation (Cvetanovic et al.,Nature Medicine 2011). We are now comprehen-sively exploring the therapeutic role of VEGFin the mouse SCA1 knock-in focusing onnon-cerebellar symptoms. Specifically, we haveperformed Morris Water Maze assays. For theseassays, we have performed studies on geneticVEGF delivery, since we were concerned thatwater may be a source of infection from the ICV

pump. We are alsodelivering VEGFlater in the diseaseto see whetherVEGF continuesto improve thecerebellar pheno-type of the SCA1mice. We hope topublish this workin the comingyear. In addition,we are performingmechanistic exper-iments to determine how VEGF is exerting itsbeneficial effects in SCA1.

Aim 2: Explore of the possibility of usingVEGF as a biomarker for SCA1 toxicity.A major shortcoming in SCA clinical trials isthe lack of biomarkers to follow disease progres-sion. Given that we have discovered that VEGF,which is a secreted protein, is decreased in thecerebella of SCA1 mice, we will test whetherthere is a detectable decrease in VEGF in cere-brospinal f luid of these mice. We have had diffi-culty in making progress in this aim, because ithas been difficult to obtain CSF samples in arelatively non-traumatic manner for mice.Instead, we have redirected this aim to begin toexplore novel ways by which VEGF can bedelivered. Specifically, we are collaborating withDr. Sam Stupp, a nano-engineer to develop a

Dr. Puneet Opal

Continued on page 8



novel reagent: VEGF-PA (VEGF-Peptide Am-phiphile). The molecular design of VEGF-PAinvolves covalent attachment of a previouslydescribed fifteen-amino acid VEGF mimeticsequence (KLTWQELYQLKYKGI) to a peptideamphiphile (PA) (D’Andrea et al., 2005;Webberet al., 2011). In the aqueous tissue environment,the PA induces hydrophobic collapse, while thepeptide backbone of the PA promotes intermol-ecular-sheet hydrogen bonding. Together theseeffects promote the self-assembly of the VEGF-PA molecules into cylindrical nanostructures(~10 nm in diameter) that present the VEGFmimetic sequences on the surface at a high vanderWaal density (~1015/cm2) (Silva et al., 2004;Webber et al., 2011).A therapeutic strategy using VEGF-PA offersseveral potential advantages over both the VEGFmimetic peptide and native recombinant VEGFprotein: First, VEGF-PA has a better pharmaco-kinetic profile for long-term delivery. This isbecause of (a) a long half-life: VEGF-PA areretained in tissues even four weeks after delivery,eventually being biodegradable by design (re-combinant VEGF itself only lasts a few hours invivo, and the 15 residue peptide itself is even lessstable); (b) slow release: VEGF-PA form smallfilamentous structures that break apart slowly;(c) polyvalent nature: each nanoparticle presents

VEGF mimetic peptides at a high valency; thispromotes receptor dimerization and sustainedactivation; (d) hydration and spread in vivo:VEGF-PA are highly hydrated, a feature that alsopromotes efficient and potent receptor bindingand signaling. Overall these properties allow forcontinuous and sustained signaling. VEGF-PAalso has other important qualities: they do notcause an immune response, and they are a rela-tively inexpensive reagent, an important featuregiven the high cost of using recombinant VEGFfor a slowly debilitating disease like SCA1.Finally, this nanoreagent is already in an advancedstage of development (Webber et al., 2011).Specifically, VEGF-PA has been shown to en-hance the proliferation, survival, and migrationof endothelial cells by activating VEGF receptors,it has strong in vivo activity, inducing angiogen-esis in the well-established chicken chorioallan-toic membrane assay; moreover when tested in amouse hind-limb ischemia model, VEGF-PA,given as a single bolus, enhanced tissue perfusion,resulting in limb salvage and functional recoveryin gait and treadmill endurance – with beneficialeffects lasting 28 days after delivery (the longesttime tested) (Webber et al., 2011). It is importantto point out that in this model, VEGF-PA out-performed recombinant VEGF in its sustainedbiological efficacy as evidenced by significantincrease of angiogenesis, and a reduction in limbnecrosis.For all these reasons, we are excited to test itspotential in SCA1; indeed this would be the firstapplication of this technology for any neuro-degenerative disease. In our preliminary experi-ments we have found that these nanoparticlesspread rapidly in the brain once injected (wehave used f luorescently tagged PA to show theirspread in the substantia nigra as an example. Wehope that in the coming year we will be able tocompletely validate the efficacy and safetyprofile of VEGF-PA.I should also add that I am using preliminarydata generated by this grant to prepare an NIHR01 application to continue this work.

Opal Research SummaryContinued from page 7

CFC NumberThe National Ataxia Foundation’s Com-

bined Federal Campaign (CFC) number is10752. This program, the world's largestand most successful annual workplacecharity campaign, provides a convenientway to donate to the Foundation.Please give as generously as you can and

please ask your co-workers to also give tothe National Ataxia Foundation.

�




SmallMolecule Inhibitors of PKA:ATherapeutic Strategy for SCA1

By Harry Orr, PhDUniversity of Minnesota, Minneapolis, MN

The following is a research summary of a grant funded by NAF for fiscal year 2012. This Pioneer SCAresearch grant was jointly funded by NAF and the Bob Allison Ataxia Research Center (BAARC).

Spinocerebellar ataxia-type (SCA1), a progres-sive lethal neurodegenerative disorder, is due to aCAG trinucleotide expansion in the Ataxin-1gene. This mutation results in a disease-causingprotein (Ataxin-1) with increased number of glu-tamines, 40 or greater. In addition to an increasein glutamines, evidence indicates that phospho-rylation of the amino acid at position 776, aserine, is critical for a mutant Atxian-1 to causedisease. Phosphorylation is a well-known meansby which the function of a protein can be regu-lated. In the case of Atxain-1, this modificationregulates its clearance as well as its interactionwith other cellular proteins. Both of theseprocesses impact disease severity. Thus, the goalof our work supported by the SCA PioneerAward from the NAF is to find a small moleculethat blocks the enzyme that phosphorylatesserine 776 of Ataxin-1. Identification of such amolecule would be an important step towardsdeveloping a drug for treating SCA1. In the firsttwelve months of funding we purchased, synthe-sized, or had donated from industry severalpotential candidates and tested them using aseries of biochemical and cell-based assays fortheir ability to inhibit Ataxin-1 phosphorylationat serine 776. From this pool of material weselected the 25 best compounds (commercial andsynthetic) for further analysis. These compoundsare now being tested for the best combination ofphysicochemical properties that are known tobe predictive of having the highest likelihoodof being a good drug. Once this analysis is

completed, duringthe current year offunding the best1-2 of these com-pounds will bescreened for theirability to modifydisease using ourSCA1 mousemodel. Finding ahigh-quality smallmolecule withvalidated biology(i.e. has treatment efficacy in our SCA1 mousemodel) will be critical for a successful submissionof an application to the National Institutes ofHealth (NIH) Therapeutics for Rare and Neg-lected Diseases Program for final development ofpotent and selective inhibitors of Ataxin-1 serine776 phosphorylation into a drug that can then betested in SCA1 patients.

Dr. Harry Orr

�

Research DriveThe National Ataxia Foundation needs

your help in supporting promising ataxiaresearch by contributing to the 2013Annual Ataxia Research Drive.Please make your online gift today at

www.ataxia.org, and help our cause byspreading the word to your friends andfamily. Thank you.


This two year proposal has three aims, the firsttwo of which we proposed to accomplish in thefirst year. The studies take advantage of two cell-based assays we developed, one of which assesseslevels of the Spinocerebellar ataxia type 3 (SCA3)disease protein and one of which assesses the for-mation of early aggregates, or oligomers, by thisdisease protein.Aim 1 seeks to confirm activity of identifiedcompounds in follow-up screens employingcerebellar slice culture derived from an appropri-ate mouse model of SCA3. Aim 2 employs ourtwo cell-based assays to screen custom librariesthat include many modulators of protein qualitycontrol and a natural products collection of~25,000 compounds. Aim 3 (second year ofthe proposal) seeks to test whether a promising

compound from Aims 1 and 2 mitigates diseasein the SCA3 mouse model.In year one, we largely completed aims 1 and2. As we move into year two, we are moving to-ward clinical tests in an appropriate mousemodelof SCA3. To achieve Aim 1, we first establishedan effective method for brain stem/cerebellumslice cultures derived for the SCA3 mousemodel. Of the 10 promising compounds identi-fied from our initial screens, nine compoundswere tested in brain slices from themousemodel.At least two of the compounds were confirmedto reduce levels of the mutant disease protein.One of these FDA-approved compounds isactive in the brain and widely used as a medica-tion, thus is a promising compound to be testedin the coming year in the mouse model ofSCA3.In Aim 2 we proposed to screen customlibraries, including collections of knownproteostasis modulators and natural products. Incollaboration with the University of MichiganCenter for Chemical Genomics (CCG) weassembled a set of focused libraries comprising1,267 compounds. We successfully screened thefocused libraries using one of our cell basedassays. A subset of 120 compounds that showedmore than 20% of disease protein reduction andgood cell viability were then subjected to adose-response screen (DRS). Analysis of thedose-response screen has been completed,and we are now determining which of the newcompounds will be advanced to further studiesin secondary screens in year two.


Pioneer SCA Translational Grant Award

Novel Cell-Based Screens forTherapeutic Compounds in SCA3

By Henry Paulson, MD, PhDUniversity of Michigan, Ann Arbor, MI


SCA StudyPatients with SCA1, SCA2, SCA3, SCA6,

and MSA-C are needed for an MRI study toevaluate the chemistry of the brain in atax-ias at the Center for Magnetic ResonanceResearch at University of MinnesotaYou will lie in the scanner for ~1.5 hour

while listening to the music of your choice.Reimbursement for travel expenses is avail-able and you will be compensated for yourtime.If you are interested or have questions,

please call Diane Hutter @ (612) 625-2350or e-mail [email protected].

�



Young Investigator Research Grant Award

Diagnosis of Rare andNovelGenetic Cerebellar Ataxias UsingNext-Generation Sequencing

By Brent L. Fogel, MD, PhDUniversity of California, Los Angeles, CA


I thank the National Ataxia Foundation forsupport of the work in my laboratory to identifyand diagnose rare and novel genetic ataxias. Iwish to take this opportunity to provide a briefsummary regarding the progress we have madein 2012, as a second year of funding for this awardis currently underway.To better diagnose genetic ataxias and identifynovel disease genes, my lab uses a technologycalled next-generation sequencing, which allowsrapid and efficient examination of the more than20,000 expressed genes in a patient’s genome(termed the “exome”). This simplifies the chal-lenge posed by the fact that at least 60 differentgenes cause dominant or recessive disease withcerebellar ataxia as a primary feature, and wellover a hundred other diseases exist which mayinclude cerebellar ataxia as an associated symp-tom. Although approximately 50% of familialcases are due to mutations in just a few genes(SCA1, SCA2, SCA3, SCA6, SCA7, andFriedreich ataxia), the remaining genetic casesindividually account for 1% or less of all casesworldwide each, so testing of genes individuallyis unlikely to be helpful diagnostically. Exomesequencing provides a rapid and cost-effectivemeans of viewing all ataxia genes at once, stream-lining and expediting diagnosis.In the first aim of this project, I proposed to usenext-generation sequencing as a means of testingfor known ataxia genes. Because the exome rep-

resents only 1-2% of the entire genome wemustfirst isolate or “capture” that portion for se-quencing, hence it is important to be certain weare not “missing” important sequences (i.e., aknown ataxia gene). To test this, we comparedexome data from six individuals and determinedthat, at a mini-mum, more that80% of all targetednucleotides (in-cluding all re-ported ataxia genesassociated withprotein-codingmutations) arebeing sequenced atleast 10 times each,assuming that wecan obtain an ac-curate picture ofthe genetic variation within each individual andwill effectively be able to identify coding muta-tion in known ataxia genes. We have now usedthese methods to examine several large familiesand individual patients with sporadic ataxia,identifying approximately 25% with suspecteddisease-causingmutations in rare ataxia genes. Ofnote, themajority of these mutations were novel,contributing to the diversity of known disease-

Dr. Brent L. Fogel

Continued on page 12



casing variation for these genes.The second portion of my proposal focused onwork to identify the genetic cause of cerebellarataxia in a series of families whose cause is cur-rently unknown. We selected five families withdominant ataxia for the initial test of this strat-egy. Sequencing of the index cases in all familiesrevealed that one family harbored a mutation ofa known ataxia gene whereas the rest did not.Sequencing exomes from additional membersof each family have allowed us to reduce thenumber of potential disease-causing variants toless than 10 in each family and we are currentlyperforming detailed molecular analyses to deter-mine the specific variant that is causing disease.The methods we are using to do this will be

readily applicable to the screening of potentialdisease-causing variants in future families that weand others study.Once completed, the work begun during thisproject will provide exciting new information forthe ataxia community. The validation of newdiagnostic strategies and the identification ofnovel ataxia genes will ultimately provide physi-cians with new tools for diagnosing patients and,beyond that, will uncover new insights into themolecular etiologies of cerebellar ataxia tofurther advance our knowledge of how the cere-bellum functions, what goes wrong in ataxia, andwhat we, as physicians and researchers, can do tosomeday cure these progressively debilitatingillnesses. I thank theNational Ataxia Foundationfor helping me contribute to this importantmission.

Fogel Research SummaryContinued from page 11

�

Research Grant Award

RNA Interference Therapy forSpinocerebellar Ataxia 7 (SCA7)

By Beverly Davidson, PhDUniversity of Iowa, Iowa City, IA


Spinocerebellar ataxia 7 (SCA7) is a neurolog-ical disease characterized by loss of motor coor-dination and vision loss. Currently there are noeffective treatment strategies for this disease.SCA7 is caused by amutation in the gene ataxin-7, which leads to the production of a toxic proteincausing death of Purkinje neurons in the cere-bellum and photoreceptors in the retina. Purk-inje neurons play a major role in motorcoordination and balance and hence SCA7patients experience ataxia.We hypothesized thattargeting the root of the problem, i.e., reducingthe levels of the toxic protein in the Purkinje

neurons in the cerebellum and photoreceptors inthe retina would alleviate the degeneration andimprove disease phenotypes.To address our hypothesis, we first obtainedand characterized the phenotypes of a mousemodel of SCA7 (SCA7-92Q) expressing thehumanmutant ataxin-7 gene. The ataxia pheno-type of these mice was assessed by several behav-ioral assays to test motor coordination andbalance. We observed that the onset of ataxia inthe SCA7 mice occurs at ~20 weeks of age andprogressively worsens, with death occurring ~45weeks of age. To assess the retinal phenotype,�



electroretinogram (ERG) recordings were takenat 10-week intervals. No abnormalities werenoticed in the ERG recordings. Funduscopyand histological analysis at end stages (~45 weeksof age) were performed and no loss of cells orretinal phenotype was observed when comparedto the non-diseased littermates. However, thehuman mutant ataxin-7 gene is expressed in theretina as seen by histological analysis and hencewe tested our ability to reduce ataxin-7 in theretina as well.We tested two different strategies; a) reducingthe levels of mutant ataxin-7 as well as the nor-mal mouse ataxin-7 and b) reducing the levels ofmutant ataxin-7 alone.When we reduced the levels of ataxin-7 in thePurkinje neurons of the cerebellum and theretina of the SCA7 mouse pre-symptomatically,we were able to demonstrate a significant reduc-tion (~50%) in ataxin-7 expression levels in thecerebellum and in the retina. Long-term reduc-tion in the levels of mutant and normal ataxin-7in the cerebellum resulted in a significant

improvement of motor coordination, balanceand gait. Histological analysis is currently beingperformed on the mouse cerebellar tissue toassess cerebellarmorphology andtoxicity. Retinalstudies are cur-rently being per-formed to assesslong-term effectsof reducing nor-mal and mutantataxin-7 in theretina.NAF fundinghas enabled us tomake significantprogress to test our hypothesis: to identify asafe and effective treatment strategy for SCA7.Our studies indicate that partial reduction ofboth normal and mutant ataxin-7 expressionin cerebellar Purkinje cells is safe and effectivelong-term in the SCA7-92Q mouse model.

Dr. Beverly Davidson

�

A Child’s PerspectiveBy Ellen Stamelos

I have spinocerebellar ataxia type 6 (SCA-6). The first symptom weexperience in my family is loss of balance, so several years ago I wentto a physical therapist to get help. One of the exercises he gave me wasto walk heel-to-toe. I had a ballet bar installed in a hallway inmy houseand I walk heel-to-toe, forward and backward a few times a week.This summer I spent several weeks with my sister where we walk toa rec center that has an exercise room. There is a long ramp with handrails that goes down to the swimming pool off of which there is an ex-ercise room and an arts and craft room. As part of my exercise routineI walk heel-to-toe up and down that ramp.One day the summer camp students walked down the ramp into thearts and crafts room while I was practicing my walking. One of theolder boys, about 12 years old, lingered in the doorway watching me.Some other students came over to see what he was watching. Onelittle girl whispered, “What’s she doing?” He answered, “She’spracticing tight rope walking.”Ellen Stamelos �



This report provides information on the tissuedonation program during calendar year 2012that was partially funded by National AtaxiaFoundation (NAF). It also looks back at theexperience of the program over the last 20 years(1993-2013).

Results of 2012The following autopsy specimens were re-ceived in 2012, sorted by diagnosis (number inparentheses): Friedreich’s ataxia (four); spin-ocerebellar ataxia (SCA)-1 (one) SCA-2 (one);SCA-3 (one); SCA-4 (one); SCA with un-knownmutation (one); multiple system atrophy(one); other sporadic ataxias (two); recessiveataxia with unknown mutation (one); mito-chondrial disease with ataxia (one).As in all other published series, Friedreich’sataxia is more frequent than any of the SCA’s,with four cases among a total of 14 cases (28.6percent).

The 20-year experienceThe map below shows the 20-year experienceof the tissue donation program. It is at once

apparent that the investigator is more often calledupon to write letters of explanation (dark dots)than to process autopsy specimens (light dots).The latest entry occurred on April 17, as anindicator of program activity. The density oflarge and small dots ref lects the general distribu-tion of the population of the United States. Theprogram is international, with 20 inquiries fromforeign countries, and four autopsies.Table 1 below shows the distribution of au-topsy diagnoses as of March 7. The data confirmthe prevalence of Friedreich’s ataxia (highlightedin gray). An important further observation is thefrequency of SCA without identified mutationand of multiple system atrophy.

Table 1. Distribution of autopsy diagnoses as ofMarch 7


The Pathogenesis of Hereditary AtaxiaBy Arnulf H. Koeppen, MDAlbany Research Institute at VA Medical Center, Albany, NY


Distribution of autopsy diagnoses in dominant,

recessive, and sporadic ataxia (1993-2013)

Type

Number

of cases

Percent (of

120 cases)

SCA-1 12 10

SCA-2 10 8.3

SCA-3 10 8.3

SCA-4 1 <1

SCA-6 6 5

SCA-7 1 <1

SCA-17 1 <1

Unknown SCA 12 10

Multiple system atrophy and other

sporadic ataxias

18 14.6

Friedreich’s ataxia 43 35.8

Friedreich’s ataxia (carriers) 2 1.7

Other recessive ataxias 4 3.3

Other: Baltic myoclonus (1); Niemann-Pick type C (1); familial spastic

paraplegia (2); polyglucosan body disease (1); pallidonigroluysian

disease (1); autosomal recessive spastic ataxia of Charlevoix and Saguenay (1)

�



�

The following is a listing of other ataxia inves-tigators who received tissue for their ownresearch: Olaf Riess, Peter Bauer, Angela Berg,X-J Li, Huu PhucNguyen, Tübingen, Germany;Ilya Bezprovanny, Charles White, Dallas, TX;Albert LaSpada, Seattle, WA; Stefan Pulst, LosAngeles, CA (now Salt Lake City, UT); Christo-pher Gomez, Minneapolis, MN (now Chicago,IL); Daniel Geschwind, Giovanni Coppola, LosAngeles, CA;GinoCortopassi, Sacramento, CA;Sonia Levi, Paolo Santambrogio, Milan, Italy;Luis Pereira de Almeida, Coimbra, Portugal; ShaiShoham, Jerusalem, Israel; Paul Hahn, BenoitGiasson, Philadelphia, PA; Grazia Isaya,Rochester, MN; Michael Kruer, Portland, OR;Miriam Cnop, Brussels, Belgium; Mark Payne,Indianapolis, IN; Erika Becker, Sydney, Australia;Partha S. Sarka, Galveston, TX;MarekNapierala,Houston, TX; Alice Pébay, Melbourne, Aus-tralia; Sheng Han-Kuo, New York, NY; andXavier Roucou, Sherbrooke, QC, Canada.Insights gained from tissue donationsThe list of hereditary and sporadic ataxias inTable 1 highlights the heterogeneity of SCA andsporadic cases. This heterogeneity is now wellknown from molecular genetics, a disciplinethat has led to the genetic definition of over 30types of SCA. Nevertheless, the mutation hasremained elusive in 10-25 percent of SCA. Thesystematic autopsy study of sporadic cases hasestablished that most of these patients sufferedfrom multiple system atrophy, and that thediagnosis was not always made during life.Most ataxia researchers focus on selected SCA orrecessive ataxias, and there has been little attemptto explain the shared phenotype in all forms:ataxia. The investigator has used his abundantmaterial in a much broader approach to definethe ataxia-causing lesions in several forms ofhereditary ataxia, irrespective of mutation ortransmission. To this end, he examined threesites of the central nervous system, namely,cerebellar cortex, dentate nucleus, and inferiorolivary nucleus in SCA-1, SCA-2, SCA-3,SCA-6, SCA-7, SCA-17, and Friedreich’s ataxia.

The overall result of this work was that the keydamage causing ataxia affects the dentatenucleus, rather than the cerebellar cortex or theinferior olivary nucleus. This observation hasimmediate implication for analysis of ataxia bymagnetic resonance imaging (MRI). This imag-ing technology is quite capable to measure thesize of the dentate nucleus, and visualization ofthe dentate nucleus may serve as a biomarker ofdisease progression.

Impact of the programFor families, an organized program of tissuedonation has provided a remarkable benefit.Statements have included “closure” thoughthis word does not cover all positive effects. Thestress of caring fora severely disabledspouse, father,mother, brother,sister, or childis very high. In ad-dition to the elu-sive “closure,” thefeedback to theinvestigator hasoften expressedthe thought thatthe deceased fam-ily member didnot live his or her life in vain. The benefit of anautopsy for families cannot be overstated.

For the principal investigator, the programgave him unequalled insight into the neu-ropathology of hereditary and sporadic ataxia. Itwas a continuing learning process. Meetingfamily members before and after the death ofthe ataxia victim also gave him insight into whatmust be done to support families. Such supportmay come from NAF and other organizations.

For other ataxia investigators who receivedtissue samples, access to autopsy tissues providedand will continue to provide an opportunity totake research from in-vitro experiments or studyof transgenic animals to a translational stage.

Dr. Arnulf H.Koeppen


Funding from theNational Ataxia Foundationhas allowed us to provide a collaborative databaseapplication that serves as a powerful researchtool for ataxia scientists, and encourages datasharing and collaboration among researchers and

institutions. Thedatabase has toolsfor improving thequality of the data,analyzing the data,and displaying dataand analysis re-sults. NAF fund-ing has allowed usto undertake themajor task of mi-grating data fromthe Clinical Re-search Consor-

tium for Spinocerebellar Ataxias (CRC-SCA)natural history study, previously housed in theRare DiseaseNetwork (RDCRN) database, intothe National Ataxia Database. This undertakingincluded:• Creating 35 new user accounts at 13 institu-tions• Creating 21 new data entry forms

• Creating data structures for 2,623 variables• Performing extensive testing of new datastructures and forms• Programming bulk import routines for massimport of data from the RDCRN database• Coordinating data migration with RDCRNpersonnel• Installing a major upgrade of the statisticalanalysis functions, with five new analysis options• Creating a customized version of the data-base manual for Ataxia Consortium users• Expanding and updating on-line help pages• Hosting nine training webinars for SCA-CSA users at 13 sites• Holding phone consultations as needed withconsortium leadership and users at various sites• Fielding and implementing user requestedupdates to the database• Modifying data entry forms in response touser requestsAn example of a user requested upgrade to thedatabase application software is a feature addedallowing the user to choose from a number of“views” that offer a variety of ways to summarizethe data entered in the database. This acts as avaluable project management tool, and allowsproject coordinators to visualize the progress oftheir study.We also offer the registry to other ataxia re-search groups at major institutions such as JohnsHopkins. The architecture of the database facili-tates collaboration and sharing of data. The fund-ing we receive from these other groups, togetherwith the generous support of the NAF, allows usto enable collaboration among ataxia scientistsand accelerate the pace of research in the field.


�


National AtaxiaDatabaseBy Susan Perlman, MDUniversity of California Los Angeles


Dr. Susan Perlman

Matching GiftsMany employers will match your gift to

the National Ataxia Foundation through aMatching Gifts Program. Please ask youremployer if they have a program. If they do,your gift and the gifts of your co-workers willdouble in value.




Non-Viral GeneTherapyfor the Correction of

Friedreich Ataxia iPSCellsBy Joseph Sarsero, PhDMurdoch Children’s Research Institute, Parkville, VIC, Australia


Friedreich ataxia is an inherited disorder of thenervous system and heart. Symptoms includedifficulty with balance, impaired coordinationof the legs or arms (ataxia), slurred speech anddiabetes. Enlargement of the heart, irregularheartbeat and other symptoms of heart diseaseoccur inmany individuals with Friedreich ataxia.The genetic defect (mutation) that causesFriedreich ataxia is a “stutter” in the genetic codeof the Friedreich ataxia gene (FXN) termed a“GAA trinucleotide repeat expansion.” Thealteration results in reduced levels of an essentialprotein termed frataxin in all cells of the body.Stem cell therapy has the potential to repair orreplace damaged tissues and restore organ func-tion in individuals with Friedreich ataxia. Majoradvances in stem cell technologies have led to thedevelopment of embryonic-like cells from adulthuman tissue. These cells, known as induced-pluripotent stem (iPS) cells, have essentially thesame properties as embryonic stem cells, and thuscan be used to derive any mature cell type.Prior to the transplantation of nerves or heartcells derived from Friedreich ataxia iPS cells, itwill be necessary to restore frataxin protein tolevels compatible with normal cell function. Anessential prerequisite for the clinical applicationof human iPS cell therapeutics will be assurancethat iPS cells and derivatives do not containgenetic abnormalities introduced during theirestablishment or modification. The process ofgene correction itself should also not contribute

unnecessary operational DNA sequences into thegenome or modify extrinsic gene expressionpatterns.In this project we have developed a means tocorrect the defect inherent in Friedreich ataxiaiPS cells by a gene therapy approach that willrestore normalFriedreich ataxiagene expressionand does not leaveany “genetic scars”in the cells. Thestrategy addressesmajor safety con-cerns for the clini-cal use of iPS cellsand should facili-tate compliancewith regulatory re-quirements for theapproval of the use of these cells in transplanta-tion medicine.The successful use of the technique developedin this project is not only relevant to the treat-ment of Friedreich ataxia but demonstratesthe feasibility of a clinically appropriate methodfor the correction of stem cells of any geneticdisorder that is amenable to regenerativemedicine.We would like to thank the National AtaxiaFoundation for the continued generous supportof our research program.

Dr. Joseph Sarsero

�




Pilot Studyof the First Knock-InAnimalModel of SCA28,

Harboring theM666RMutationBy Filippo Tempia, MD, PhDNeuroscience Institute of Turin (NIT), University of Turin, Turin, Italy


The spinocerebellar ataxia type 28 (SCA28) is due to mutations of the AFG3L2 gene, which causedegeneration of neurons of the cerebellum. The aim of this pilot project was to validate and study thefirst SCA28-knock-in mouse, which bears one of the mutations found in patients. Previous studies

relied on animal models lacking the gene, which in patients is presentbut mutated. The first step of the validation was based on the detectionof symptoms consistent with a diagnosis of ataxia. In line with the adult-age onset of SCA28 in patients, knock-inmice displayed the first motorsymptoms at the age of seven months, which corresponds to middle-aged adults. At eight months of age, initial signs of damage of cerebel-lar neurons were detected, validating this model of ataxia. These resultshave been presented as preliminary data in applications for two largergrants on ataxia, which have been successful. The first grant is fromthe Telethon Foundation-Italy, for a three-year study on the causes ofSCA28 ataxia and for the development of a new therapeutic strategy.The second grant is from the Italian Ministry of University andResearch, for a three-year study on the mechanisms and the possibleways to prevent or treat several forms of ataxia including SCA28.

We are very grateful to the National Ataxia Foundation for making it possible for us to acquirepreliminary data, which allowed us to obtain funding for the next three years for research in the fieldof ataxia.

Dr. Filippo Tempia

There have been a number of true heroes overthe years that have quietly made a significantimpact on the National Ataxia Foundation andthe ataxia families it serves. These are peoplewho have named NAF as a beneficiary in theirwills.Each of these gifts, which have ranged from a

thousand dollars to nearly one million dollars,have enabled NAF to fund promising ataxiaresearch and provide meaningful programs andservices to ataxia families. Their forethoughtand benevolence in helping others is truly theirlegacy. Please consider remembering NAF inyour will. Thank you.

Remembering NAF in Your Will

�



Young Investigator for SCAResearch Award

Molecular Pathogenesis Studiesof Spinocerebellar Ataxia Type 1

By Janghoo Lim, PhDYale University, New Haven, CT


The hereditary cerebellar ataxias are a genetically heterogeneous butclinically similar group of disorders that share many neurological andpathological features, such as loss of balance and coordination, as well ascerebellar Purkinje cell loss.We have utilized spinocerebellar ataxia type 1 (SCA1) as a prototypeof dominantly inherited cerebellar ataxias. By investigating the funda-mental mechanisms of SCA1 pathogenesis, we hope to gain insight intothe common key features of this and several other neurodegenerativediseases. SCA1 is caused by a polyglutamine expansion in the Ataxin1protein.With the National Ataxia Foundation support, we investigated thepossibility that SCA1 affects Wnt signaling pathway. We found thatdisease-causing mutant Ataxin1 affects the activity of the Wnt-β-catenin signaling pathway and this may cause or modulate the SCA1 dis-ease pathogenesis. We believe that this study will lead us to better understand the pathogenicmechanisms of SCA1 and other hereditary ataxias, which we hope will open the possibility of futuretherapies.

Dr. Janghoo Lim

�

The National Ataxia Foundation has supporteda Tissue Donation Program for all forms ofataxia for many years. Currently the program isundergoing some changes, but the importanceof brain tissue donation upon death continues tobe an important research tool that will improvethe chances of finding treatments for thesedevastating disorders.Dr. Arnulf Koeppen continues to oversee and

facilitate a tissue donation program for Fried-reich ataxia. If you have Friedreich ataxia andare interested in learning more about how todonate tissue, please contact Dr. Koeppen [email protected] or (518) 626-6377.

If you have one of the SCAs, sporadic/idiopathic ataxia or multiple system atrophy ora recessively inherited ataxia other thanFriedreich ataxia and would like to learn moreabout the brain donation program for theseforms of ataxia, please contact the NationalAtaxia Foundation at [email protected] or (763)553-0020.We honor the many individuals, with the

support of their family members, who gave thegift of tissue donation upon their deaths andthose who have put a plan into place for tissuedonation when they die. This is truly a heroicact.

Tissue Donation Program


Spinocerebellar ataxia type 28 (SCA28) is a novel form of juvenile-adult onset, slowly progressive,cerebellar ataxia characterized by unbalanced standing, gait incoordination, nystagmus, ophthalmo-paresis and pyramidal signs. Several disease-causing mutations have been identified in the AFG3L2

gene. The encoded protein, AFG3L2, resides in themitochondrion andcontrols multiple functional aspects of this organelle. Indeed, AFG3L2is essential for energy production and also regulates mitochondrialmorphology. We characterized a mouse model of SCA28 that recapit-ulates the features of patients. In fact, it shows progressive ataxia due todegeneration and loss of Purkinje cells (PCs), the typical neuropatho-logical hallmark of SCAs.We found that in SCA28 PCs undergo “darkdegeneration” since they appear shrunk, atrophic and dark. Thisdegeneration, which generally follows increased calcium concentrationassociated to dysfunction of the glutamatergic system, is quite particu-lar in SCA28, since it originates from mitochondrial dysfunction. Wehypothesize that an inefficient calcium internalization operated bydamaged mitochondria is one of the early events in the pathogenesis ofSCA28. This defect can increase calcium concentration in PCs, thustriggering dark degeneration. Recently obtained data support our

pathogenetic hypothesis. Indeed, we found that mitochondria in which AFG3L2 is dysfunctional havedecreased ability to internalize calcium. We defined that this defect is closely related to an alterationof mitochondrial morphology, which is in turn dependent on inefficient ATP production. More-over, we successfully concluded a pharmacological trial on SCA28 mice, which may make closertherapies for this disease.


Dr. Francesca Maltecca


Spinocerebellar Ataxia Type 28, fromMolecularHypothesis to Preclinical TreatmentBy Francesca Maltecca, PhDSan Raffaele Scientific Institute, Milan Italy


�

GoodSearchDid you know that donating money to the

National Ataxia Foundation is as easy aschanging your Internet search engine?GoodSearch.com donates 50 percent of

its revenue to the charities designated byits users. Simply go to the site and followthe easy steps to make NAF your charity ofchoice. Then use GoodSearch as you wouldany other search engine. Thank you.

iSearchiGiveiSearchiGive.com is a new search engine

powered by Yahoo! Search and iGive.comis the internet’s first online shopping mallwhere a portion of each purchase isdonated to a charity of your choice.Sign up today and indicate that National

Ataxia Foundation is your favorite cause.It is free with no hidden fees and providessupport for the important work of NAF.


http://www.goodsearch.com/

http://isearch.igive.com/



Development of aMouseModel for SCA6

By Edgardo Rodriguez, PhDResearch Assistant Professor, University of Iowa


Spinocerebellar Ataxia type 6 (SCA6) is adominantly inherited form of ataxia caused by amutation in the CACNA1A gene that encodesfor a calcium channel known as Cav2.1. As it isthe case with so many other ataxias, there is noeffective treatment for SCA6. In addition tobeing an ataxia, SCA6 belongs to the family ofneurological diseases known as the CAG tripletrepeats disorders. Because the clinical severity ofthese neurodegenerative diseases, includingSCA6, is linked to the presence of a “toxic”protein, turning off production of the diseaseprotein is a promising route to therapy. We havepioneered the use of RNA interference (RNAi)as a means to block the expression of toxicdisease genes in the brain. Our goal is to carryout the preclinical studies needed to bring RNAitherapy to the clinic for patients with SCA6 andother forms of dominantly inherited ataxia (i.e.SCA1, SCA2, SCA3, SCA7).To accomplish this goal, we proposed to gen-erate a new genetic mouse model of SCA6 thatcould serve as an accurate biological platform onwhich to test promising therapeutic interven-tions, including RNAi. During the past year,with funds from the Young Investigator SCAAward, we were able to generate one transgenicmouse line, called SCA6TG72, which expressesthe humanmutant Cav2.1 calcium channel genecarrying a disease-causing CAG repeat expan-sion. SCA6TG72 mice express the humanmutant Cav2.1 protein in cerebellar Purkinjecells, the most vulnerable neuronal cell type inSCA6. Importantly, molecular, pathologicaland behavioral analyses revealed that SCA6TG72

mice mimic important aspects of human SCA6.For example, we can detect the presence ofprotein aggregates in SCA6TG72 Purkinje cells,a pathological hallmark of the human disease.Wealso measured a progressive loss of cerebellarPurkinje cells in SCA6TG72. Finally, we wereable to quantify a progressive impairment inmotor coordination using three different motorbehavior tests.We are currentlyusing SCA6TG72mice to perform thefirst preclinicalRNAi therapy-based trial forSCA6. Within thenext year we hopeto report on ourfindings in a peer-reviewed scientificjournal. The datawe have gatheredthus far has also served as the basis for researchgrant applications to the National Institutes ofHealth. For example, this past summer wesubmitted a proposal for the development of twoadditional SCA6 transgenic mouse lines that willcarry two different CAG repeat sizes, one with11CAG repeats (not expected to develop disease)and one with 24 CAG repeats (to more closelymodel the disease-causing allele in SCA6). Itis our goal to continue studies towards theunderstanding of the pathogenic mechanismsthat underlie SCA6 and the preclinical develop-ment of new therapeutic strategies.

Dr. Edgardo Rodriguez

�


Spinocerebellar ataxia type 3 (SCA3) orMachado-Joseph disease (MJD) is caused by anexpanded number of repetitions of the threeDNA elements CAGwithin the so called ataxin-

3 gene. Everybodyin the general pop-ulation has bew-teen 12 and 40repetitions ofCAG in one’s ownataxin-3 gene.SCA3 patients,however, havemore than 62 ofthese CAG re-peats. Everyonehas two copies ofthe ataxin-3 gene,

one inherited by the mother, one inherited bythe father but only one of these two copies con-tain an expanded repeat. Statistically, patientswith a higher number of CAG repeats developfirst symptoms of the disease at an earlier age andpatients with less have first symptoms later in life.However, this is a statistical correlation and it isnot possible to predict the exact age of the onset

from just the number of CAG repeats.For example, a SCA3 patient with 71 CAGrepeats may get first symptoms as early as 25 yearsor not until 60 years of age. In order to improvethe prediction when first symptoms may occur,we analyzed whether additional variations ofthe ataxin-3 gene-beside the CAG repeat-influence the age of onset.We observed that eachpatient has a specific combination (a so-called“haplotype”) of these different variants both inthe normal and the expanded ataxin-3 copy.Interestingly, 2% of the European patients withone specific haplotype had a much later (fiveyears later) onset of symptoms.In this project, supported by The NationalAtaxia Foundation, we want to find out why thisspecific haplotype is protective. Within the firstyear of this project, we discovered that the varia-tions of ataxin-3 modify important cellularprocesses causing the disease symptoms includ-ing the formation of so called protein aggregates.Interestingly, the non-affected copy of ataxin-3,with the normal CAG repeat, seems to modifythese processes. The 2% of European patientswith a later onset of symptoms seem to have vari-ations of the affected protein which specificallywork together to protect themselves from theirtoxic effect.The results of our project will help in under-standing the processes which lead to SCA3, thatmay lead to a better prediction of the age of onsetand may point to novel targets for a possiblefuture therapeutic intervention.


Dr. Thorsten Schmidt

�


Isoforms and Polymorphisms of Ataxin-3asModifiers of the Pathogenesis inSpinocerebellar Ataxia Type 3

By Thorsten Schmidt, PhDUniversity of Tuebingen, Germany


Become an NAF member orrenew your membership online

today at www.ataxia.org.

YOUR MEMBERSHIP MATTERS!


http://www.ataxia.org/


�

Spinocerebellar Ataxia Type 3 (also known as Machado-Joseph Dis-ease; SCA3/MJD) is perhaps the most common dominant ataxia in theworld. SCA3/MJD is a progressive loss of full control of bodily move-ments. It arises from the expansion of a region of the ataxin-3 proteinbeyond normal levels from 12-42 to over 60 repeats of the amino acidglutamine. Such expansions affect several areas of the brain and thespinal cord.We do not understand well how ataxin-3 functions in cells.If we know the roles of ataxin-3, then we can explore what goes wrongin SCA3/MJD.Our studies toward understanding the normal functions of ataxin-3have provided clear insight into its biology. Our findings detail howataxin-3 functions in neurons, interacts with specific protein partners,and controls how different cells, including neurons, respond to toxicstress.We are continuing our explorations into the function of ataxin-3 to understand how pathogenicmutations change its normal activities.The second component of our work was to identify genes that we can target for SCA3/MJDtherapy. We conducted, and are further expanding, a search for genes whose function we can inhibitto relieve degeneration from toxic ataxin-3. So far we have found eight enzymes that, when inhibited,rescue neurons from ataxin-3-dependent neurodegeneration.We are now working to understand how these enzymes function and how to best design moleculesto inhibit their activities as a potential treatment.


Mechanisms of Neuroprotectionin Spinocerebellar Ataxia Type 3

By Sokol V. Todi, PhDWayne State University School of Medicine, Detroit, MI


Dr. Sokol V. Todi

Patients with early symptoms of FriedreichAtaxia ages 10 and above are needed for anMRI study to evaluate the chemistry andconnectivity of the brain and spinal cord inFriedreich’s ataxia at the Center for MagneticResonance Research at University of Min-nesota.You will lie in the scanner for ~1.5 hour

while listening to the music of your choice.

Reimbursement for travel expenses is availableand you will be compensated for your time.Please note that we cannot scan you if you

have Harrington rods, and we cannot scan peo-ple with diabetes at this time.If you are interested or have questions, please

call Diane Hutter at (612) 625-2350 or [email protected].

Friedreich Ataxia Study



�

Aim I: Identification of a candidate region<10Mbp of the rat X-chromosome.To find the region of linkage, we developed apanel of 44 microsatellite markers informativethat were known to be polymorphic betweentheWF and BN strains.We used this panel to ex-amine 80 F2 animals generated by F1 sib-sibmatings. The F1s were generated by crossingaffected male WF rats with wt BN females.Shared haplotypes of WF alleles delineated thecandidate region as being on rat distal Xq.Aim II: Characterization and identification of

the shaker mutation by RNA sequencing.Given the recessive X-linked segregation of theshaker phenotype it is likely that the mutationalmechanism is loss of gene function by missense,frame-shift, splice-site or indel mutations. RNAsequencing and analysis of expression levels maynot only define secondary effects of the shakermutation, but may provide a direct way to iden-tify the mutant gene. We isolate RNAs from wtand shaker cerebellum at four weeks prior toonset and subjected the RNAs to deep sequenc-ing. We focused our bioinformatics analysis ondistal Xq. Very few consistent changes were iden-tified and only one in a coding region of a gene.The respective gene is involved in calcium home-ostasis. The amino acid substitution is not foundin the 10K exome variants and is absent in wild-type Wistar-Furth rats.

Aim III: Sequencing of the target region andbioinformatic analysis of variants.It was possible that the shaker mutation wouldhave been outside exonic regions. Wholegenome sequence analysis would have identifieddifferent kinds of mutations and different muta-tion locations. We did not have to use WGS asthe RNA-seq approach has likely identified themutation.Future work: We have begun cloning wild-type andmutant alleles into expression vectors toconfirm whether the shaker variant is indeed adisease-causing mutation. These experimentsinclude testing of the subcellular distribution ofthe respective proteins as well as their effect oncytoplasmic calcium levels.Overall Significance:No genetic variants caus-ing PC degeneration in the rat have been identi-fied. Compared with the mouse, the rat offersunique opportunities for the study of cell-basedand device-based therapies owing to the largersize of the cerebellum and the recognized behav-ioral sophistication of the rat. Our deep RNA-sequencing approach appears to have identifieda mutation rapidly and points to the importanceof collecting human autopsy material for geneidentification. Our identification of a naturallyoccurring mutation in the rat causing cerebellardegenerationmay help the development and test-ing of therapies in humans.

NAF Research Fellowship Award

Identification of theMutationCausing Progressive Purkinje

Cell Degeneration in the Shaker RatBy Sukanya Karan, PhD, and Stephen Hansen, PhDUniversity of Utah, Salt Lake City, UT

The following is a research summary of a grant funded by NAF for fiscal year 2012. We are very grateful forthe support from NAF for this young investigator. Dr. Karan left the laboratory in August of 2012 andDr. Stephen Hansen carried out the studies in the remaining four months.The final progress report lists theaccomplishments by specific aim.



By Michael Parent, NAF Executive DirectorIn each issue ofGenerations I have the privilegeto update you on the various activities of theNational Ataxia Foundation. Today, I would liketo focus on NAF’s research efforts and theimportance of supporting the 2013NAFAnnualAtaxia Research Drive.NAF has been a pioneer in supporting andencouraging ataxia research since 1957. Today,NAF utilizes a multi-pronged approach to helpfast-track ataxia research:• Direct funding of ataxia research through itsfive research programs• Hosting the InternationalAtaxia Investigators Meetings(AIM)• Sponsoring/Co-SponsoringMedical and Scientific Confer-ences on Ataxia• Partnering and Cooperationamong researchers and organiza-tionsWithin the five research pro-grams, one focus is supportingYoung Investigators to encouragethese scientists to pursue a careerin ataxia research. Another focushas been in translational research to foster growthin the development of treatments for the ataxias.Innovative studies funded through the NAFResearch “Seed Money” program gives investi-gators an opportunity to pursue ongoing, as wellas, pilot studies. NAF’s Research FellowshipAward serves as a bridge from post-doctoralpositions to junior faculty positions and helpsincrease the possibility of these researchers toestablish an independent ataxia research pro-gram.The Fifth International Ataxia InvestigatorsMeetings (AIM) will be held in March 2014.More than 120 of the world’s leading ataxiaclinicians and scientists, as well as the most

promising young investigators from aroundthe world will attend this three day scientificconference. The AIMs are designed to helpaccelerate world-wide ataxia research effortswith emphasis on cooperation and collaborationwithin the ataxia research community.Along with NAF initiated scientific confer-ences on ataxia, NAF sponsors and co-sponsorsvarious scientific meetings each year to bringresearchers together for presentations and dis-cussion on leading-edge research on the ataxias.In pursuit of answers to end ataxia, NAF

continues to partner with otherataxia organizations, the Ameri-can Academy of Neurology’sAmerican Brain Foundation, andindustry leaders in support ofataxia research and scientific andmedical symposiums.To support these programs,NAF gratefully acknowledges ouranonymous donor who again hasso generously supported thisyear’s research funding, TheMichael and Patricia ClementzFamily Fund for SCA3 Researchfor their continued financial

commitment. To all who so generously supportNAF through Walk n’ Rolls, other events, ourcorporate and foundation friends, and to ouramazing individual, family and group donorswho support the annual ataxia research drive,thank you. Each of you is making a difference inbringing meaningful ataxia research forward.October 15 will be the starting date for the2013 NAF Annual Ataxia Research Drive. Thisannual research drive has proven time and timeagain how important each research dollar raisedis in supporting promising ataxia research.Last year, due to the overwhelming response of

From the Desk of theExecutive Director

Michael Parent




so many of you who generously supported theresearch drive, NAF was able to support 21ataxia research studies totaling $1million dollars.This year your support is even more impor-tant. NAF is currently reviewing 81 qualityataxia research proposals from 14 countries andfive continents. They are worthy of yoursupport, and will give us more answers in ourfight to end ataxia.Together we can build on our research effortsin funding the best science in the world, sup-porting promising translational research, bring-ing young investigators into the field of ataxiaresearch, supporting innovative and cutting-edgestudies to bring us closer in finding effective

treatments and ultimately a cure. Please supportthis year’s NAF Annual Ataxia Research Drive.This year’s Research Theme is “Research …Finding Answers.” Your support of the 2013NAFAnnual Ataxia Research Drive will give usmore answers in ending ataxia. Please give asgenerously as you can. Thank you.

Keep GoingWritten by Cathy DeCrescenzo

Dedicated to my husband Joe, and all the incredible,courageous people we’ve met over the years through the NAF

As morning breaks, we awaken with the unknown upon us.We hope and pray for the best – sunshine and warmth – though, if clouds and rain are meant to be,we dig deep into our being to bring out the positive in whatever the day has up its sleeve.We are strong, we are resilient – we keep going.We do not falter, we do not complain – we keep going.We do what we must to make the day bright – we do what wemust to rest peacefully at night.We gather as one to share our lives – we gather as one to continueour fight.We hold on to each other with dignity as our journey movesforward – we hold onto each other and we do not allow fear to con-trol us.We are thankful for each and every day – we are thankful for ourloved ones and friends who encourage us along the way.At the end of the day, we may say a prayer or two – and, at the endof the day, with hope in our hearts, we are focused on the dawningof a new day... Tomorrow! Joe DeCrescenzo

From the Desk...Continued from page 25

�

�

E-mail blasts from the National AtaxiaFoundation are sent out periodically onataxia research, events and other timelyissues of interest. Please email your e-mailaddress to [email protected] so you don’tmiss out on important information.

E-mail Blasts



I have yet tomeet anyone who likes interviews.If they awarded statuettes for “Worst Interviewof the Year” I have one that I feel would be in therunning.I was escorted into the interview (trying tosmile and walk a straight line – felt like a MissAmerica contestant), and introduced to not one,not two, but THREE women conducting theinterview (as if one isn’t intimidating enough),who were seated at one end of a long table. I wasasked to sit at the other end – I felt like I wasfacing a parole board ... or a firing squad!Not only that, but they all had long dark hairand were dressed in black – a picture of the threewitches in Shakespeare’s “Macbeth” flashed intomy mind. All that was missing was the boilingcauldron.To add to the mix – as a bit of side fun to ataxia– at times, without any warning, your speechstarts to slur. So, not only do I walk like I’mdrunk, but I talk like it too! I discovered thatdrinking ice water tends to lessen the slur (docsdon’t know why, but say if it works, keep doingit). So I had brought along a large cup of waterwith lots of ice and downed it in the car before Iwent in, just to be on the safe side. The inter-viewers were running a bit late, and so, as I waswaiting to be called in I was getting nervous,which had two consequences:• I needed to go to the bathroom after all thewater, but didn’t want to leave the waiting room;• I could feel my tongue starting to get“heavy,” a sign that soon I would start slurringmywords. (Twomore reasons why I wanted thisto be a very quick interview.)In previous interviews I have felt I was babblinguncontrollably (something I do when nervous),and mymind kept screaming “SHUT-UP!” butmy mouth just kept talking (you know you’re introuble when the interviewer looks at his watch).

So this time I was determined to stick to thepoint and give short answers (you know – name,rank, serial number), which may have comeacross as a bit un-cooperative (I can’t win!).

I had prepared for some questions I thought Imight be asked (which, fortunately, I was), butthey got me with “give three adjectives that bestdescribe you.” My mind went totally blank, andall I could think of was “what the heck is anadjective?” Didn’t matter that I had been a liter-ature major in college all those years ago. After a

long pause, I said “adaptable” (they seemed tolike that one). Then a longer pause and I cameup with ... “f lexible.” (Huh? Made me soundlike I was trying out for the circus.). Then afteran even longer pause, with three pairs of expec-tant eyes burning into my brain, the ticking ofthe wall clock pounding in my ears, and sweatstarting to drip down my armpits, I opened mymouth and out popped ... “happy.” WHAT? Ialmost broke out laughing because I felt as if I hadjust named three of the seven dwarfs in SnowWhite!

I did not get called back for a secondinterview.

Anatomy of a Job InterviewBy Vicki Pavilonis

Vicki Pavilonis

�


NAF Merc

— ATAXIA RESOURCES —Healing Wounded Doctor-Patient Relationshipsby Linda Hanner with contributions by John J.Witek,MD and doctors and patients around the nationThis book is packed with information that anyonewho goes to a doctor for any reason deserves toknow and that every professional who wants to max-imize his or her healing power must understand. $10Living with Ataxia:An Information and Resource Guideby Martha Nance, MDThis illustrated book provides a compassionate,easy to understand explanation of ataxia with ideason how to live well with ataxia. Second edition pub-lished in 2003. $14Managing Speech and Swallowing Problems:A Guidebook for People with Ataxiaby G.N. Rangamani, PhD withcontributions from Douglas E. Fox, M.S.This 60-page booklet is an excellent resource forthose who struggle with speech and/or swallowingproblems. Includes helpful suggestions. Secondedition updated in 2006. $7.50

BOOKS

— FICTION & PERSONAL STORIES —Ten Years to Liveby Henry J. SchutThe story of the Schut’s family struggle with heredi-tary ataxia and the impact it had on this extendedfamily. It is dedicated to the author’s brother, Dr. JohnW. Schut, who was committed to the cause of findinga cure for ataxia, which claimed his life. $8.75

There’s Nothing Wrong with Askingfor a Little Help … and Other Mythsby Dave LewisThe story about one man’s experiences in living withFriedreich’s ataxia. Dave spent the last three years ofhis life writing his memoir to provide information andinspiration to countless others. Proceeds from thebook purchased through NAF will be used to supportpromising Friedreich’s ataxia research. $15.95

— COOKBOOKS —Recipes and Recollections by Kathryn Hoefer SmithDedicated to the memory of her daughters who hadFriedreich’s ataxia, Kathryn Hoefer Smith has takenthe handwritten cookbook her mother-in-law made forher sons and their families and duplicated it in 2003.It is full of delicious recipes and recollections. Perfectfor FRDA research fundraisers. $10

Cooking for a Causeby Julie Karjalahti for FRDA researchThis 177-page cookbook has kid’s recipes, fun craftrecipes, along with the usual desserts, breads, bev-erages and other recipes you would expect from agood cookbook. $12

VIDEO/CD

Ballads of a Family Man CD10 songs in memory of Billa Ballard. $5

“Together There is Understanding” VHS or DVDDiscussion of ataxia. 50 minutes.VHS $20; DVD $25

SHIRTS / MISCELLANEOUS

Original NAF IAAD T-ShirtFeatures “globe” logo shown on front page.Sizes S, 3X only. Limited quantities available. $10

NAF Baseball Cap (White or Blue)Velcro closure. Navy embroidered logo. $10

NAF 50th Anniversary Coffee MugBlue marble and gold. $3

NAF Wheelchair/Walker PouchZippered black pouch with “National AtaxiaFoundation, logo, and web URL printed in whiteon the front. 9.5"W x5"H x1"D. $5NAF Grip n’ Sip Water MugBlue with “National Ataxia Foundation, logo, andweb URL printed in white on the side. 3.5"W x9"Hwith 13" sipping straw. $5

Gen_1303_25-44.qxp:Layout 1 9/25/13 12:35 PM

chandise

Description Qty. Size Each Total

________________________________________________

________________________________________________

________________________________________________

________________________________________________

________________________________________________

SUBTOTAL: ___________________________________

Shipping within U.S.: Add $5.00

Shipping outside U.S.: Add $15.00

ORDER TOTAL: ________________________________

PLEASE ALLOW 4-6 WEEKS FOR DELIVERY

NAME: __________________________________________

ADDRESS: _______________________________________

CITY_________________ STATE: ____ ZIP: ___________

PHONE: _________________________________________

E-MAIL: __________________________________________

For credit card orders, please fill out the following information(you must include phone number and signature):

PLEASE CIRCLE ONE: Visa Mastercard Discover

NAME ON CARD: _________________________________

CARD #: _________________________________________

EXP DATE: _____________________ CVV #: ___________

SIGNATURE: _____________________________________

“Ataxia is Not a Foreign Cab”Refrigerator MagnetBusiness card size magnet. $1

Window Cling or BumperSticker$1 ea. or 6 for $5

NAF Ataxia Awareness Band BlueOne size. $2

NAF Ataxia Awareness Ribbon MagnetBlue with white lettering/logo. $4

Reusable Grocery Bag with NAF and Cab Logos$5

NAF Lapel Pin $5

Magnetic Power ClipStrong magnet for super holding power featuringrubber grips. $3

“Know Ataxia” Backpack20”x16” drawstring backpack features gray reflec-tive strips, drawstring straps, and two carry handlesat top. $5

International Ataxia Awareness Day T-ShirtAvailable in youth L, and adult small to XXX-large (XXLcurrently out of stock). $10

Past Annual Membership Meeting (AMM) T-ShirtsLimited years and sizes available. You pick the sizeand we’ll pick the AMM. $1 each while supplies last!

NAF Shoulder BagBlue with white NAF logo. 11x15x2 inches. $10

NAF Polo ShirtsMens – Royal blue w/white embroidered NAF logo inmedium to XXX-large. Womens – Light blue w/ navyembroidered NAF logo in small to XX-large. $25

NAF Denim ShirtDenim with white embroidered NAF logo. $27.50

“Ataxia is Not a Foreign Cab” T-ShirtWhite. New design. Sizes small to XXX-large. $10

“Ataxia is Not a Foreign Cab” Long-Sleeve T-ShirtBlue. Sizes small to XXX-large. $15

“Ataxia is Not a Foreign Cab” SweatshirtWhite. Sizes small to XXX-large. $20

SHIRTS/MISCELLANEOUS

ORDER FORM

To place your order, call (763) 553-0020, fax (763) 553-0167, mail a copy of this form to National AtaxiaFoundation, 2600 Fernbrook Lane, Suite 119, Minneapolis, MN 55447 or visit http://tinyurl.com/nafstore

Gen_1303_25-44.qxp:Layout 1 9/25/13 12:35 PM


My name is Handoyo “Trip” Triputra, I amthe youngest of four children. I was born inSemerang, Indonesia. My parents, a successfulcontractor and a famous clothing designer,moved our family to the U.S. in 1980. It was agreat sacrifice. My parents wanted their childrento have more opportunity.I realized in the early 90’s that Iwas interested in pursuing a careerin law enforcement.Where I camefrom, being a police officer wasnot a highly respected careerchoice because of the corruption,but my parents were very support-ive. I was hired as a fulltime paidreserve police officer in 1997 andworked several other jobs beforefinally being offered a position asa deputy sheriff in 2001. I contin-ued in law enforcement with var-ious positions until 2012.In the meantime, I noticed that something waswrong withmy balance. I would walk in the hall-

way and would run into the walls, start losingmybalance when I got out of the car, or got up outof a chair or couch. For several years I wouldcomplain to my doctors and they would say thatthey believed I had “vertigo.”I made an appointment with a general doctor

whom I explained my symptomsand he immediately made me afollow-up appointment for aCAT scan, MRI and a neurolo-gist. After reviewing the MRI,CAT scan andmy symptoms theybelieved that I had a rare condi-tion called “cerebellar ataxia.”I had genetic testing done, and

the results of those tests were neg-ative. There’s a list of other reasonson how you can get this conditionand all but one had been ruled out.There was “chemical exposure”on the list. After being exposed to

lots of chemicals on the job, many of the chemi-cals that are used in the making of methamphet-mine drugs and chemicals that are found in thecultivation of marijuana, that was the only thingthat made sense. (I conducted over 50 extractionsof methamphetamine while assigned to the GangTask Force.) Even my neurologist said that it ispossible for me to get this condition from chem-ical exposure frommy job as law enforcement of-ficer.I was formally diagnosed in May 2011. InOctober 2011, I was transferred from patrol topersonnel for modified duty. I was at personnelfor about six months (March 2012), when thecounty notified me via e-mail that, since mycondition was “permanent and stationary,” theywere going to end my modified duty status.March 27, 2012 was my last day at work. Aroundthe same time, I filed a workers’ compensation�

The End of a CareerBy Handoyo “Trip” Triputra

Handoyo “Trip” Triputra

Planning YourTrip to Vegas?

Request a “Las Vegas” guide book pro-vided by the Las Vegas Convention and Vis-itors Authority to help you plan your journey!The complimentary guide book is filled withinformation about the city. This free guidecan be requested by calling 1-877-847-4858 or you may request or download acopy at www.lasvegas.com/planning-tools/free-visitors-guide/.To find out more about the 2014 NAF

Annual Membership Meeting, visit NAF’swebsite www.ataxia.org.


http://www.lasvegas.com/planning-tools/free-visitors-guide/


I find one of the best ways to combat thisdreaded marauder known as ataxia (in all its var-ious forms) is to point out life’s little challengesand laugh at them. It’s either that or cry. I find itvery hard to have a positive attitude or to be ofhelp to another if I’m crying. Besides, cryingwould be an admission of defeatand I won’t accept that. So, withthat in mind, I would like to pres-ent the top five things that are aconstant source of frustration andangst for me:1.When putting a twist cap backon a bottle I would like to be ableto hold on to it and not drop it onthe f loor five or six times ... onceI manage to wrestle the thing on, Ishould be able to twist it straightthe first time instead of making itcrooked and having to re-twistanother five to six times.2. When bending over to recover the bottlecap, it would be nice not to fall forward ... bang-ing my head into various pieces of furniture and

kitchen appliances, all of which seem to havesharpened their edges when they saw my headapproaching.3. When putting a twist tie back on the loafof bread or other bag, it would be very helpfulnot to feel like I am wearing ski gloves ... or like

I need a degree in structural engi-neering to manipulate a two-inchpiece of paper-covered wire.4. When inserting a key into alock I would be exceedinglyhappy if I could do so without therequisite two to three minutes ofpoking and prodding ... causingscratches that all my locks anddoors can testify to ... and evenwhen I force the key into the holeit doesn’t always slide in easilybecause I’m applying some newkind of angle that would take alengthymath equation to explain.

5. I would really, really like to able to brushmyteeth without also brushing my chin, cheeks,nose, forehead, and hair.

Tripped Up by AtaxiaBy Jason Wolfer

JasonWolfer

claim, which the county denied. I received ane-mail from County Human Resources onNovember 13, 2012 that the county had electedto retire me as of November 15. The county gaveme a two-day notice and retired me, denied myrequest to cash out my Catastrophic Time Bankwhere the county and the department hadcollected 600 hours, and put my family into greatfinancial (and medical) stress.Fortunately, my fellow law enforcement familyand the County Deputy Sheriff Relief Founda-tion have helpedme fill part of my financial gapswith donations. The support I have received hasbeen incredible and awe inspiring.My family and

I are blessed and grateful to be part of such acommunity.Unfortunately, in a law enforcement career, wespend a lot of time trying to please others at theexpense of our immediate family. Workingweekends, birthdays, holidays, graveyards, swingshifts, etc., can be very stressful and affect thewhole family. However, while going throughthis ordeal, I have learned that I can always counton my family, whether my immediate family ormy extended law enforcement family and theSheriff’s Association.If you are interested in more of my story I canbe contacted at [email protected]. �

�



Four Components to an EffectivePhysical Therapy Program for AtaxiaBy Polly Swingle, PTThe Recovery Project, LLC

This is the first of a two-part edited excerpt of the presentation given by Polly Swingle at the 2013 AnnualMembership Meeting in Detroit, MI on the essential components of an effective physical therapy program forataxia patients. Polly Swingle is a physical therapist at Project Recovery in Detroit. In this first part, Pollyaddresses physical issues related to ataxia, research, the physical therapist’s evaluation, characteristics of aneffective program and measures used to determine improvement.

My name is Polly Swingle and I am a localPhysical Therapist (PT) in practice for over 25years. I work for a practice called the RecoveryProject in the Detroit Area. I’m also the PTwhoevaluates everyone who comes through theMDA clinic in Detroit. At the practice where Iwork, we specifically see people with neurolog-ical deficits and many of the ataxic disorders.Many people who come to ourMDA clinic arefrom very rural areas inMichigan and their ther-apists, who have gone to school and are licensed,have not seen a patient with Friedreich ataxia orthe other ataxias and they are “clueless”.The following will give you information thatyou can take back and ask your therapist, “Canyou test me on this?” or “How about if myexercise program is an hour long instead of 30minutes?” or “How about if we address strength-ening and f lexibility for this amount of time?”Ataxia is a movement disorder resulting fromthe incoordination of movements and inadequatepostural control, which presents in balance andwalking disturbances.Cerebellar Ataxia is due to dysfunction of thecerebellum.• Dysfunction of the vestibulocerebellumcauses impaired balance and control of eyemove-ments.• Dysfunction of the spinocerebellum presentswith wide based “drunken sailor” gait, charac-terized by uncertain starts and stops, lateral devi-

ations, and unequal steps.• Dysfunction of the cerebrocerebellum pres-ents with intention tremors, writing abnormali-ties, dysarthria and dysdiadochokinesia.When I ask patients who come to see us,“Why are you here?” the majority of them say,“Because I’m falling.” So that is often the firstthing; the need to get better at fall preventionbecause they can hurt themselves. The secondthing is that ataxia is affecting their functioningand mobility.Many patients say that they are really strong,but they keep falling. What we notice is thatwhen we individually test the muscle strengthwhen sitting, they are very strong, but it isthe lack of coordination of their strength whenwalking, standing or having to use the posturalmuscles with the leg muscles that causes prob-lems. It is important to address strengthening forthose with ataxia.

What does the research say?There is on-going research in physical therapyfor those with balance problems.• Neuroplasticity evidence (viaMRI) indicatesbalance exercises improve balance, mobility, gait,and endurance.• Multifactorial intervention study withbalance training as core component in a com-munity-based program concluded that it “safelyand effectively reduced the number of falls” �



in the elderly.• Balance training shows, “encouraging resultsand very low risk of injury which in this studysuggests that this strategy for fall prevention maybe recommended for use by physical therapists.”Research is saying that with repetition, withexercise, with doing the same normal pattern ofmovement over and over and over again, we canmake a change. This means that it is importantnot to be sedentary and to exercise. I hope youunderstand that you need to do something andif you don’t, you will lose it. We also know thatif we work on strength and balance that it willreduce the risk of falling.

What a Physical TherapistEvaluatesWhen you go to see a physicaltherapist, they will evaluate you inall the following areas.• Range of Motion (ROM) ofall of your joints. You need tohave full range of motion withyour hips, your knees, your anklesand your upper extremities, tomake sure that you can function-ally reach and do things with yourarms.• Strength of everything inyour body.• Foot deformities with your shoes and socksoff.• Scoliosis by looking at your spine. If youhave a sign of scoliosis, that will tell us about anyof the muscle imbalance of your core and whichside is stronger or weaker. It is important for us tolook at the activation of your core and thestrength of your core.• Cardiovascular endurance using tests to as-sess what kind of shape you are in. This canmakeup a baseline for you that can be used during yourtherapy to see if you are improving or not.• Balance using specific tests that evaluatebalance.• Gait by looking at the speed, quality, and

safety of your gait.If you are ambulatory it’s also importantto look at your standing ability at a counter,parallel bars or at a standing frame. A standingframe is a piece of equipment that completelysupports you. It supports your hips in front andbehind, as well as your knees so that you canstand-up.

Why is Physical Therapy and ExerciseImportant?• To prevent falls; so much of it is related tosafety.• To maintain the function that you currently

have.• To determine if there is a needfor adaptive equipment.• To remain as independent aspossible.If you are sitting using a scooteror power chair, you need to havesupported seating to prevent scol-iosis and to help support yourtrunk. When you are supportedand sitting upright you are goingto be better at breathing, talking,eating, swallowing and using yourupper extremities.

Characteristics of an Effective PhysicalTherapy Program• Intense strength training• Dynamic balance training• Cardiovascular training• Gait training• Stretching• Long-term participationHave you heard from your PT that you haveplateaued or that you are not making any moreprogress, so they need to discharge you? This isvery frustrating and it is part of the industry andthe way that insurance companies seem to becutting insurance benefits for physical therapy.


Polly Swingle



Home Exercise Program (HEP) and commu-nity fitness programs are options for a long-termplan that remains effective when you are dis-charged from physical therapy. Work with yourPT to find those programs. We tend to see peo-ple with ataxia who come back at least one timeper year, kind of like a yearly tune-up. Theycome in, we are very familiar with them, and wesee how things are progressing and adjust theirHEP as needed.Some of the community-based organizationsare putting in equipment that assist people whohave balance deficits or who use wheelchairs.Check with your local organizations about whatthey have to offer so you can go outside of yourhome for additional exercise.For an effective physical therapy program thereare some standardized tests that your PT can dofor patients with ataxia. It gives objective infor-mation of what your status is when you startphysical therapy. Then you can be objectivelytested as you go through physical therapy toshow change. As mentioned, you may haveheard from your therapist that you are not show-ing any change, so they have to discharge you.With standardized testing that we are now seeingin physical therapy, the testing does show somechanges which is a justification to keep you intherapy. Knowing this terminology will help youto stay in physical therapy for as long as possible.

Outcome MeasuresThe Berg Balance Scale• A 14-item scale, rated 0-4 for each item• Designed to assess static and dynamic balance• Predicts multiple falls in communitydwelling and institutionalized older adults• Has strong validity and reliability• Maximum score of 56 points• A score of less than 45 indicates adults whoare at risk for falls

This is a specific balance test. You are evalu-ated sitting, standing, standing on one leg, stand-ing on two legs, with eyes open, with eyes closedand doing some reaching activities. It is anobjective test that gives the participant a score ona point scale. If you have ataxia, you will proba-bly score in the less than 45 point range.As you go to therapy and work on strengthen-ing, balancing and other aspects these areasshould improve and this test will show a changein your score. Make sure that your therapistdocuments your scores and sends it to yourinsurance company so that you can remain intherapy.Another positive thing is when I haven’t seenmy patients for six months, I will retest them.It will show if they have declined or improved.This is another positive indication that willprovide justification for your physician or insur-ance company that you need to continue withtherapy.

Timed Up and Go Test• Used to assess balance, functional mobility,and determine fall risk• Involves timing an individual as they risefrom a chair, stand, walk threemeters, return andsit• Good intra- and inter-rater reliability• Score of 13.5 seconds indicates a fall risk inolder adultsThis is a common standardized test in thephysical therapy industry which can be donewith people who are ambulatory. You sit in achair, and we time you as you get up, walk threemeters, turn around, come back and sit down.This is another measurement that gauges yourprogress.

Six Minute Walk – the Sixth Vital Sign• Measures distance walked in six minutes• Valid, reliable, sensitive, and specific confi-dence• Correlates with functional ability andbalance confidence

Four Components...Continued from page 33

�



• Data on age-related norms• Has potential to predict future health statusand functional decline including:– Hospitalization and discharge location– Mortality

This is a standardized test that measures en-durance. Cardiovascular endurance is one of thecomponents that we definitely see in the popu-lation of ataxic patients. If you are affected it isusually because you are not as active or as mobile

as you were. For this test you walk for six min-utes and we measure how far you walk. There isa scale that will show where you score, basedupon your age.

The second part of Polly’s presentation will be pub-lished in the Winter 2013-14 issue of Generationsand will include a description of exercises with com-plete instructions for a 60-minute physical therapysession. �

SEEKING PATIENTS WITH SCA (ANY TYPE) FOR A CLINICAL TRIAL USING TRANSCRANIAL MAGNETIC STIMULATION

TO IMPROVE GAIT, POSTURE, AND MOBILITYat the Berenson-Allen Center for Non-invasive Brain Stimulation at

Beth Israel Deaconess Medical Center, Boston MA

You will be asked to come in for daily treatments (M-F) for 4 weeks, 30 minutes a session.

You will be compensated for your time.

If you are interested or would like more information, please contact

Natasha Atkinson at 617-667-0258 or email [email protected]

�

How Big Is a Sparrow’s Cerebellum?By Pete Meyerhoff – July 2013

I am sitting in my wheelchair in front of theglass sliding door that opens to my balcony. I amfascinated by a sparrow perched on the railing.He sees me but is unconcerned becausethe door is closed. Then hedoes a 180-degree jump-turn landing back on histwo feet on the railing. Itis a smooth maneuver, nostruggling, no spreading hiswings to maintain balance. Anyhuman balance beam gymnastwould garner a “10” inOlympic competition. He

then hop-hop-hops along the railing with littleeffort.I am jealous.He then f lies off into a nearby tree full of

branches. He must have donethis a thousand times with-out getting seriously hurt.He accomplishes these

feats with a cerebellum nolarger than a pinhead.I am jealous.DEAR SPARROW,

CAN I BORROW YOURCEREBELLUM?



ASENTAnnualMeetingProvides Valuable InformationSubmitted by Jenean McKay

With the support of theNational Ataxia Foun-dation, I have attended the ASENT (AmericanSociety for Experimental NeuroTherapeutics)annual meeting for the last five years. I am amother with a son with sporadic ataxia. I am re-tired living inWashington, DC. The conferenceis held in the Washington, DC area. Approxi-mately 300 attend, a highly professional group ofpeople from all aspects of neurological research–NIH and FDA researchers andgrants administrators, patientadvocates, pharmaceutical compa-nies (start-ups to the largest)and researchers from all over theworld. I am not a researcher, butthe mix of people leads to fasci-nating discussions and I feel veryprivileged to be there.Here are some of the events that

I found very informative:• MIT researchers showed aparalyzed woman, who could notspeak, move a bottle of water toherself by using her brain to tellthe equipment what to do. This was a fascinatingprogram and has a LOT of potential for ataxiapeople.• There was a half-day panel discussion aboutthe patient’s role in research, and it was clear thatpatients are far more willing to take higher risksthan the researchers are. Another panel was onhow patient-advocate groups successfully findpeople for clinical trials. These groups are farmore successful than very expensive ads inresearch journals.• “Pipeline” events – These are five-minute

research presentations in early developmentalstages, with five minutes for questions from theaudience. The subject areas are varied withtopics like chronic cough and the design of painpills that won’t allow a user to abuse them. About30 topics are covered.

• Poster sessions by researchers from all overthe world.

• I also have a table with ataxia materials,representing NAF at the conference. Here I

don’t have to explain what ataxiais, which always cheers me up.

The discussions about the vari-ous presentations are terrific. Thebest example of this is where apanel discussion about statisticalevidence, the FDA had recentlytaken a drug off the market , witha senior FDA manager and astatistician from a major researchuniversity, and in the discussionby the attendees, there was ageneral agreement with the FDAaction. It was a civil discussionwith different opinions shared.

Because I am not a researcher, it is a real stretchfor me to follow some of the presentations. Butthe participants are very willing to explain things.One of the researchers actually congratulatedmefor hanging in there in one of the very longpipeline sessions. I also make an effort to en-courage the young researchers to continue theirresearch. It is my belief that all brain research willeventually help those with ataxia.So I encourage all of you non-researchers outthere to attend scientific conferences. They needus as much as we need them!

Jenean McKay

�


The NAF Board of Directors along with theWestern Regional Support Groups would like to invite you to attend the

57th AnnualMembershipMeeting

“Betting onAtaxiaResearch”March21-23, 2014

Bally’s Las Vegas is pleased to provide the facilities for the 2014 AMM.

RoomReservations: Standard room reservations at Bally’s can be made online athttp://www.totalrewards.com/hotel-reservations?propCode=BLV&groupCode=SBNAF4.

For guests who prefer to phone in their reservations call the Reservation Center at 1-800-358-8777and ask for the National Ataxia Foundation’s group rate, which has the group code SBNAF4.A credit card is required at the time of booking and a deposit equal to one night’s room and taxwill be charged. Notice of cancellation must be received 72 hours prior to your arrival date, inorder to receive a full refund of your deposit. Parking and valet is provided at no additional fee.Request rooms in the North Tower to be closest to convention spaces. Please note all ADA

rooms have been reserved. To inquire about ADA room availability or to be placed on the waitinglist contact (763) 553-0020 or [email protected]. Reservations at group rate will be available untilTuesday, February 18, 2014. The NAF group rate is $99+tax Sunday-Thursday nights and

$149+tax Friday-Saturday nights. Please note there is limited availability on discounted rate rooms.

Meeting Registration: Registration for the 2014 NAF AMMwill open in mid-December.You are encouraged to register before February 15, 2014 to receive the early registration discountrate. In addition, members of the NAF pay a lower registration fee to attend the annual membershipmeeting. If you are not currently a member of the Foundation go online at www.ataxia.org orcall the NAF office at (763) 553-0020 to become a member or renew your membership.The meeting registration fee includes attendance at all the sessions, light appetizers

at the Welcome Reception and a delicious plated meal at the Banquet.

For more information on Las Vegas visit www.lvcva.com. For the latest information onconference registration, program schedule, and area information keep checking www.ataxia.org.

2014 NAF Annual Membership Meeting “Support Our Conference” Campaignhttps://naf.myetap.org/fundraiser/14AMM/

Join us in LasVegas for the AnnualMembershipMeeting!

Gen_1303_25-44.qxp:Layout 1 9/25/13 12:36 PM

TheNational Ataxia Foundation (NAF) Boardof Directors and theNAFWesternUnited StatesAtaxia Support Groups invite you to save thedate to attend the 57th Annual MembershipMeeting at Bally’s Las Vegas, NV. Be part of thelargest ataxia gathering in the world.When registration opens, you are encouraged

to register before February 15, 2014 to receivethe early registration discount rate. In additionmembers of theNational Ataxia Foundation paya lower registration fee to attend the annualmembership meeting. If you are not currently amember of the Foundation, if your membershiprenewal is coming soon or if you are uncertainof your membership status, use this opportunityto go online at www.ataxia.org or call the NAFoffice at (763) 553-0020 to become amember orrenew yourmembership. Take time now to con-firm your membership status and save moneywhen you register for the 2014 Annual Mem-bership Meeting. The meeting registration feeincludes attendance at all the sessions, light ap-petizers at the Welcome Reception and a deli-cious plated meal at the Banquet.Because of the generosity of several donors,

the National Ataxia Foundation is able to offerTravel Grants to help with a portion of the travelcosts associated with attending the meeting.Adults or children with ataxia are eligible to applyfor a travel grant. Visit the NAF websitewww.ataxia.org to download the application orcontact Lori Shogren at (763) 553-0020 to re-quest an application by mail. The deadline tosubmit an application is January 24, 2014.

The complete meeting schedule, events andregistration forms will be listed in the winter2013-14 issue of Generations which will bemailed in mid-December and posted on NAF’swebsite in early January, however, a brief pro-gram overview is provided below:

Thursday, March 20Pre-Meeting Activities• Exhibitors: 12 – 5 p.m.• Fundraising Meeting: 4 – 5 p.m.• Poster Session (Meet Researchers): 5:15 –6:15 p.m.

Friday, March 21• Exhibitors: 8 a.m. – 5 p.m.• General Sessions: 8:30 a.m. – 12:30 p.m.• Activity Room: 10 a.m. – 2 p.m.• Birds of a Feather (Small Groups): 2 – 5 p.m.• Welcome Reception: 7 p.m.

Saturday, March 22• Exhibitors: 8 a.m. – 5 p.m.• General Sessions: 8:30 – 11:30 a.m. and 1:45- 4:45 p.m.• Silent Auction Bidding: 8:30 a.m. - 12:30p.m.• Activity Room: 10 a.m. - 2 p.m.• Saturday Evening Banquet: 7 p.m.

Sunday, March 23• Exhibitors: 8 - 11 a.m.• Business Meeting: 8:45 – 9 a.m.• General Sessions: 9 a.m. – 1 p.m.• Meeting adjourns – See you next year!

TheNational Ataxia Foundation57thAnnualMembershipMeeting

Las Vegas,NV –March21-23, 2014

“Betting on Ataxia Research”

�




About Las VegasPlease visit www.visitlasvegas.com and www.las

vegas.com/travel-professionals/agent-tools/special-needs-visitors/ for a complete list of attractions andplanning information.

Bally’s Las VegasBally’s Las Vegas is the official conference hotelof the 2014 NAF Annual Membership Meetingand is located directly on the Vegas Strip justminutes from the McCarran International Air-port at 3645 Las Vegas Boulevard S., Las Vegas,NV 89109.For your stay planning purposes at Bally’s, thefollowing information is provided. Completedetails will be listed in the Winter 2013-2014issue ofGenerations and on the NAF website.• NAF AMM attendees staying at Bally’s LasVegas will enjoy complimentary internet accessin their guest rooms for one device.• Valet parking and self-parking are available.Both are complimentary with a clearance ofseven feet.• Oversized parking is available in Bally’s eastlot. RV’s are welcome, however, no hook-upsare available.• A service dog relief area at Bally’s is locatedoutside the Food Court Entrance on the lowerlevel.• For room reservation information pleaserefer to the AMM announcement on page 37.• If you need ADA equipment you are en-couraged to bring those items with you or makearrangements to rent equipment locally. NAF isunable to provide ADA equipment however thehotel may have some extra shower chairs, grabbars, or detachable shower heads available. Be

sure to request these items when making yourreservation if needed. The width of the bath-room door in the standard guestrooms is 26inches.

Transportation and Getting ThereBally’s Las Vegas does not provide transporta-tion from the airport. Available resources will belisted in the winter 2013-14 issue of Generationsand posted on NAF’s website.

Las Vegas Area Services and Resources

Personal Care AttendantsIf you need a personal care attendant, pleasemake arrangements prior to attending the meet-ing to have someone accompany you or have aPCA hired before you arrive in Las Vegas.Please note that NAF is unable to provideattendant care services. Due to liabilities andhealth concerns, NAF staff or volunteers andhotel employees are not able to provide PCAservices.

Comfort Keepers(702) 385-1000 Fax: (702)452-1001http://www.comfortkeepers.com/office-142Nurse Core(702) 458-1137 Fax: (702)458-1423http://www.nursecore.com/Professional Healthcare Services(702) 362-0711http://professionalhealthcareserviceslv.comRight At Home(702) 367-3400http://www.rightathome.net/lasvegas/


The following information can be used as aguide as you plan for your needs in Las Vegas.The National Ataxia Foundation does notendorse products, therapies, services, ormanufacturers. Those mentioned below areincluded for your information only. TheNAFassumes no liability for the use or contents ofany product or service mentioned


www.lasvegas.com/travel-professionals/agent-tools/specialneeds-visitors/

www.lasvegas.com/travel-professionals/agent-tools/specialneeds-visitors/

Accessible Equipment, Wheelchair,and Scooter RentalsAbility Center1-800-546-7622 Local: (702) 434-3030http://www.abilitycenter.com/lasvegas.php

Better Life Mobility Center1-888-540-8267http://www.betterlifemobility.com

Desert Medical Equipment(702) 876-9171http://www.desertmedicalequip.com/

FreedomMedical Supply and Equipment

(702) 386-9997 Fax: (702) 228-9996http://www.freedommedicalsupply.com/pages/Las Vegas Scooters1-866-775-4381 Local: (702) 610-4905http://www.702scooters.com/Scootaround Inc.1-888-441-7575http://scootaround.com/

ADA Assistance OfficeLas Vegas Convention and Visitors AuthorityADA Coordinator – (702) 892-0711

Nevada Relay ServiceVoice/TTY: 1-800-326-6888 or Dial 711http://www.lasvegas.com/travel-professionals/agent-tools/special-needs-visitors


Silent AuctionThe Silent Auction held during the National

Ataxia Foundation Annual Membership Meetingis a fun way to support NAF by bidding on qual-ity items from various states and countries. Thislong-standing NAF tradition begins SaturdayMarch 22, 2014 at 8:30 a.m., with the finalbidding ending at 12:30 p.m. the same day.Auction items should range from something

that represents your state or country, art work,sports memorabilia, theme baskets, handcrafted items, to hotel stays and weekend

getaways.Items being donated for the Silent Auction

should be dropped off at the registration areaon Thursday or Friday. If you are not able toattend the meeting, but have a quality itemthat you would like to donate, please contactNAF at (763) 533-0020 or [email protected] fordetails on where to ship your item. Donate anitem and then have fun bidding on items!Thank you for supporting this event and shar-

ing items from your local area. Good luck!

2014 AMM PreviewContinued from page 39

�

AMM Exhibitors and Sponsors WantedThe National Ataxia Foundation is looking for

companies or individuals who have products orservices that would be helpful for those withataxia to submit an exhibitor application toexhibit at “Betting on Ataxia Research,” theFoundation’s 57th Annual Membership Meeting(AMM). The 2014 AMM will be held in LasVegas, NV on March 21-23, 2014. Please [email protected] for an exhibitor application.NAF is grateful to those organizations that

have provided generous support of the annualmembership meeting. Please consider being a

sponsor of the 2014 Annual Membership Meet-ing. For information on becoming a sponsorplease contact Lori Shogren at [email protected] researchers who have an IRB-approved

study and would like to recruit participants for re-search are invited to contact Sue Hagen [email protected] for information about havingan exhibit table at the meeting.If you are affected by ataxia or are a caregiver

and know of a product or service that has beenhelpful to you, please let us know by calling(763) 553-0020 or e-mail [email protected].


Next Cory informed the group that the venuefor the “Walk n’ Roll” for International AtaxiaAwareness Day had changed to Bowl AmericainMandarin. On-site registration would start at12 p.m. Guest speaker Dr. Subramony willaddress participants at 12:30 and bowling willtake place from 1-3 p.m.Bowl America will be offering food and bev-erages at great prices. There will be raff lesthroughout the day and the prize for the topbowling score for the day will be an autographedMickey Mantle baseball. All participants whogive a $20 donation to NAF will receive a free“Walk n’Roll and Bowl” T-shirt at the event.Cory assured members that handicap accessibil-ity to the bathrooms and bowling lanes wereadequate. To help with donations to Jack-sonville’s “Walk n’Roll and Bowl,” NAF hasdesigned a website. Mac Kelso brief ly gave atutorial to maneuver around the website atwww.ataxia.org/walk/jacksonville.In closing, special recognition goes to SoniaHannan for her healthy snacks served up afterthe business meeting. The group decided tomeet at Bowl AmericaMandarin in recognitionof International Ataxia Awareness Day for goodfood, fun and socializing on the September 21.The next proposed on-site meeting will beNovember 2 at 1:45 p.m. in the Azalea, Begoniaand Camellia Rooms at Baptist South.

West Central and South Florida AtaxiaSupport GroupSubmitted by Linda Farrow, Secretary

On Saturday, July 13 we had our meeting at



Denver Ataxia Support GroupSubmitted by Charlotte DePew

The July meeting, which is always light, hadabout 25-30 attend. The speaker on Medicareand Social Security did not arrive. It was afortunate opportunity for socialization andlearning from each other. Many great topicsincluding home management, governmentsupport and emotional issues were shared.We discussed our upcoming Third AnnualRun, Walk ‘n Roll for Ataxia in Honor of JimLehr at City Park on September 8. MikeWilliam’s father, Bob, said that a simple Face-book posting yielded $500 in donations with nofurther fundraising efforts on their part in thepast.Members were also informed that our nextsocial event, organized by Nanette Redman,would be at the Chatfield Reservoir onSeptember 14. Sailing, boating and other wateractivities plus a picnic were all part of a greatouting for all who attended for the $8 park entryfee. We’ll have pictures to post!

Northeast Florida Ataxia Support GroupSubmitted by Mac Kelso

The Northeast Florida Ataxia Support Groupmet at Baptist South Hospital on August 24.Our meeting had 13 attendees. Cory Hannandiscussed several topics in Generations, citingsome very interesting information for ataxians,such as enrolling in the CoRDS registry, whatan MRI can show and how a toe wedge mayhelp your balance. He encouraged all membersto get their Generations copy by joining theNational Ataxia Foundation.


Morsani Hall on the University of SouthernFlorida campus in Tampa, FL. There were 20 inattendance.Wewere introduced to Tricia Shuster, anRN,certified yoga instructor and founder of ZiritLife, by Cindy Ziegler. Tricia spoke to us aboutmindful meditation – paying attention to thepresent moment and being aware of what’sgoing on around you. She led us through somebreathing exercises that we were very able to doby ourselves then through some relaxationexercises. She told us about something thatgenerated a lot of interest – the occipital ridge –the place on either side of the spine where theskull and the spine meet. It’s a relaxation point,and when stimulated by massage, can releaseendorphins ... the body’s anti-pain chemical. Shepassed out tennis balls in a sock and showed ushow to use them. Lying on your back, place theball under your head at the occipital ridge andmove your head around until it’s in contact andthen relax! The pressure will help to relax thearea around the base of the skull and spinal cord.A fine time was had by everyone there andTricia has agreed to come back to our meetingthe first Saturday in September to share somemore information with us.Cindy also was asking for some support infinding topics for our bi-monthly meetings andwhat the group would like to do for Interna-tional Ataxia Awareness Day in September.There were a couple of suggestions of incorpo-rating an activity on the cruise to raise funds.More thought and/or discussions will be needed.Cindy spoke brief ly about the upcomingSecond Annual “Cruise to Create AtaxiaAwareness” sailing in January. She is activelyattempting to create Ataxia Awareness. If youneed information about the cruise, please con-tact her at [email protected].

New Hampshire Ataxia Support GroupSubmitted by Jill Porter

It was great to see those who were able toattend the meeting. We covered a lot of groundregarding the Walk N’ Roll website and dis-cussed using the e-mail tabs to send a seconde-mail out to folks who had not responded,whether or not they had looked at the webpage.We felt a follow-up e-mail did not need to focuson a donation and we might want to reach outand ask if there were any problems navigatingthe webpage. We considered adding somethingabout our enthusiasm to get the word out aboutataxia and that we hoped to hear from them.We waited for more information fromSenator David Boutin on the signing of theProclamation on September 18 and asked thatthe date be available, should our request for apublic signing be granted.JohnMauro was working on an idea to incor-porate the shape of the state of NewHampshireand Massachusetts to add to the graphics on theback of the W n’ R event shirt.We now have a new meeting location –Hannafords at the Bedford Shopping Mall.

Central PennsylvaniaAtaxia Support GroupBy Chris Rakshys

We had our second meeting on July 27 at theMuhlenberg Library in Laureldale (just outsideof Reading). We had a small audience (fiveregulars and three first-timers); it was a perfectsetting for a casual and intimate discussion withour guest speaker.Kate Reed, a genetics counselor from JohnsHopkins Ataxia Clinic, joined us for a laidback discussion. Rather than having a formalpresentation, Kate sat with us and fielded manyquestions, ranging from personal to general, thatwere genetics and/or ataxia-related: to test or notto test, family planning, nutrition and genetics,individuality, and responses to environmental�

Chapter and Support Group NewsContinued from page 41



Megan Kokaras who come to our meeting asguests from out of town with their two GreatDane Service Dogs.Thank you Dr. Chip Wilmot for your excel-lent update on ataxia. You are always welcome atour meetings.

Tri-State Ataxia Support Group Meeting

March 14 and May 9 MeetingsThis is information from our last twomeetingsin March and May. A few new members were



triggers, nomenclature, and more. It was avery informative time and one that will never beforgotten – thanks a million, Kate!In closing, we discussed ideas for our freepotluck picnic in September for IAAD, ourmeeting in October, the new CoRDS ataxiapatient registry and next year’s NAF AMMin Las Vegas. It was a very good meeting andwe look forward to reaching out to more ataxi-ans in our area.

Central New York Ataxia Support GroupSubmitted by Mary Jane Damiano

The CNY Ataxia Support Group met onSaturday, June 22. Five members were present.We discussed the diet for ataxia with the infor-mation prepared by NAF. We talked about ourupcoming raff le for a quilt which was donatedto our group by Judy Tarrants’ sewing group.The proceeds from our raff le will be donated toNAF. The raff le tickets are $1 each or six for $5.Our next meeting was on September 28,with a pot luck luncheon and raff le drawing tocelebrate IAAD.

Greater Atlanta Ataxia Support GroupSubmitted by Lynn, Dave and Greg

Thanks everyone for a GREAT meeting onSaturday. We had our biggest group yet withabout 40 people attending. We would also liketo send out a special thanks to Jade Perry and

The Greater Atlanta Ataxia Support Group at their July meeting

Jade Perry (left) and Megan Kokaras with theirGreat Dane service dogs at the July GreaterAtlanta Ataxia Support Group meeting


card for $5. You receive a 25% discountthroughout the store for the entire day ... what abargain!

July 11 MeetingSubmitted by Kathleen Gingerelli

We started our meeting off by welcomingeveryone. We had a full house with some newmembers so introductions were made aroundthe room with everyone explaining whatbrought them to our meeting. We went overeveryone’s day-to-day activities, includinghousework, child care and exercise. As in everymeeting, the importance of any type of dailyexercise was stressed and we all spoke of thedifferent types each person does.A new topic of discussion was about theBalanceWear® Vest. The website to check outsome patient testimonials, videos and contactinformation is www.motiontherapeutics.com. Wehave a few members of our group who weretrying for the vest and we hope to hear some oftheir personal stories at future meetings.I’ve also recently reached out and spoke with ahealth educator from the John Hopkins AtaxiaCenter (www.hopkinspdmd.org). I will be bring-ing some correspondence as handouts for ournext meeting.As is the case in all meetings, everyone isencouraged to become aNAFmember and signup for the registry at www.ataxia.org, keep up onall new information and also receive the quar-terly newsletterGenerations, which is part of theNAF membership.

welcomed at each meeting. It’s always wonder-ful to see different faces and know that we arespreading the word by getting people to come toour meetings.InMarch, Julian spoke about his trip toWash-ington, D.C., and everyone was encouraged towrite letters to congress. Addresses can be foundby going online at www.senate.gov.In May it was discussed that Johns Hopkins isdoing a lot of ataxia research and everyone cancontinue to check the website for any upcomingclinical trial information.We also talked about the BalanceWear® Vest.You can visit the website, see some videos andread testimony from satisfied patients. The webaddress is www.motiontherapeutics.com. Carolwas getting hers by the end of May and willhopefully attend July’s meeting with her vest.Another new product we talked about andwere treated to actually viewwere the skele-toesshoes (thanks Denise!). Some of the differentmanufacturers are Fila and Vibram. You canGoogle and check them out. Remember to giveus any feedback.Exercise for all was encouraged and we weretreated to stories about how everyone staysactive.Some of the events highlighted were the 2014Membership Meeting to be held in Las Vegasand the Macy’s “Shop for a Cause” Day onAugust 24. Anyone can go online to purchase a

Chapter and Support Group NewsContinued from page 43


Wish you could support your favoritecause while shopping online? You can atwww.ShopNAF.org. You will find great dealson top brands and every purchase youmake will help support the important workof the National Ataxia Foundation.

ShopNAF.orgThe deadline to submit materials for the

Winter edition of Generations is Friday,November 1. Submit content by e-mail [email protected], or by mail to NationalAtaxia Foundation, 2600 Fernbrook Lane,Suite 119, Minneapolis, MN 55447-4752.

Deadline

�



The National Ataxia Foundation has a large network of volunteers who serve as support group leaders,chapter presidents, and ambassadors for our organization. These volunteers help identify important localresources and professional care for people with ataxia and their families.

If you or a family member or friend has been newly diagnosed with ataxia, please contact the NAF leadernearest you. If there is not a group in your area, we encourage you to visit our online social networks. Youmay also consider starting a support group in your area or becoming an NAF ambassador. If you are inter-ested in these volunteer positions please contact Lori Shogren at [email protected] or (763) 553-0020.The use of these names and contact information for any purpose other than requesting information regard-

ing NAF or joining a chapter or support group is strictly prohibited. Thank you.

NAF Directoryof Chapters,Support Groups and Ambassadors

Social NetworksNAF BULLETIN BOARDModerator – Atilla and Bearwww.ataxia.org/forum/toast.aspNAF CHAT ROOMModerator – Della ([email protected])www.ataxia.org/connect/chat-rooms.aspxNAF FACEBOOK GROUPwww.facebook.com/group.php?gid=93226257641NAF FACEBOOK FANSwww.facebook.com/lshogren?ref=profile#!/pages/National-Ataxia-Foundation/227766109304NAF YOUTUBE CHANNELwww.youtube.com/user/NatlAtaxiaFound?feature=mhum

Chapters, Support Groupsand Ambassadors

— ALABAMA —ALABAMA SUPPORT GROUP LEADERBecky DonnellyHoover, AL(205) 987-2883E-mail: [email protected]/chapters/Birmingham/default.aspxAMBASSADORDianne Blain WilliamsonHuntsville, AL(256) 429-9092 or (256) 520-4858E-mail: [email protected]/chapters/DianneWilliamson/default.aspx

— ARIZONA —PHOENIX AREA SUPPORT GROUP LEADERSMary FuchsSun Lakes, AZ(480) 883-7633E-mail: [email protected]/chapters/Phoenix/default.aspxRita GarciaChandler, AZ(480) 726-3579E-mail: [email protected]

www.ataxia.org/chapters/Phoenix/default.aspxAMBASSADORBart BeckTucson, AZ(520) 885-8326E-mail: [email protected]/chapters/Tucson/default.aspx

— ARKANSAS —AMBASSADORSJudy and David KingHot Springs Village, ARE-mail: [email protected]/chapters/JudyKing/default.aspx

— CALIFORNIA —LOS ANGELES AREA SUPPORT GROUP LEADERSherry McLaughlinAltadena, CA(626) 791-1558E-mail: [email protected]: http://laasg-ca.infowww.ataxia.org/chapters/LosAngeles/default.aspxN. CALIFORNIA AREA SUPPORT GROUP LEADERJoanne LovelandDanville, CAE-mail: [email protected]/chapters/NorthernCalifornia/default.aspxORANGE COUNTY AREA SUPPORT GROUP LEADERDaniel NavarMontebello, CA(323) 788-7751E-mail: [email protected]/chapters/OrangeCounty/default.aspxAMBASSADORSBarbara BynumMerced, CA(209) 383-1275E-mail: [email protected]/chapters/BarbaraBynum/default.aspxDeborah OmictinHayward, CA(510) 783-3190




E-mail: [email protected]/chapters/DeborahO/default.aspxEarl McLaughlinEl Cajon, CA(619) 447-3753E-mail: [email protected](Earl: [email protected])www.ataxia.org/chapters/SanDiego/default.aspxMartha ElliottCamarillo, CA 93012(805) 987-2490E-mail: [email protected]/chapters/Camarillo/default.aspx

— COLORADO —DENVER AREA SUPPORT GROUP LEADERCharlotte DePewAurora, CO(720) 379- 6887E-mail: [email protected]/chapters/Denver/default.aspx

— CONNECTICUT —TRI-STATE SUPPORT GROUP LEADERDenise Mitchell(212) 720-2179E-mail: [email protected]/chapters/Tri-State/default.aspxAMBASSADORTerre Di PlacitoTorrington, CT(860) 489-5092www.ataxia.org/chapters/TerreDiPlacito/default.aspx

— DELAWARE —DELAWARE SUPPORT GROUP LEADERJoseph DeCrescenzoNewark, DE(302) 369-9287E-mail: [email protected]/chapters/Rakshys/default.aspx

— FLORIDA —NORTHEAST FLORIDA SUPPORT GROUP LEADERSCory HannanJacksonville, FL(904) 314-2061E-mail: [email protected] & Sherri RichwineJacksonville, FL(904) 996-0699E-mail: [email protected]/chapters/NortheastFlorida/default.aspxWEST CENTRAL AND SOUTH FLORIDASUPPORT GROUP LEADERCindy Steever-ZieglerNaples, FL(239) 878-3092E-mail: [email protected]/chapters/TampaBay/default.aspx

AMBASSADORSEleanor DalyBoynton Beach, FL(561) 737-9657E-mail: [email protected]/chapters/Daly/default.aspxJim HendersonOrlando, FL(407) 568-9092E-mail: [email protected]/chapters/JimHenderson/default.aspxMeghan McBreartyTallahassee, FL(850) 524-9060E-mail: [email protected]/chapters/McBrearty/default.aspx

— GEORGIA —GREATER ATLANTA SUPPORT GROUP LEADERSDave ZillesAtlanta, GA(678) 596-6751E-mail: [email protected] RooksAtlanta, GA(404) 822-7451E-mail: [email protected] RobinetteLawrenceville, GA(770) 982-0275E-mail: [email protected]/chapters/Atlanta/default.aspxAMBASSADORKristie AdamsSavannah, GAE-mail: [email protected]/chapters/KristieAdams/default.aspx

— ILLINOIS —CHI-TOWN FRIENDSHIP GROUP LEADERJonas CepkauskasOak Forest , IL(708) 535-0928E-mail: [email protected]/chapters/Chicago/default.aspxMETRO AREA CHICAGO SUPPORT GROUP LEADERChristopher MarshChicago, IL(312) 662-1127E-mail: [email protected]://health.groups.yahoo.com/group/u_r_notalone/www.ataxia.org/chapters/ChrisMarsh/default.aspxAMBASSADORElaine DarteBelleville, IL(618) 397-3259E-mail: [email protected]/chapters/SouthernIllinois/default.aspx

— INDIANA —AMBASSADORCheryl (Cheri) BearmanHoagland, IN �

NAF DirectoryContinued from page 45



(260) 452-6231E-mail: [email protected]/chapters/Cammer/default.aspx

— IOWA —IOWA SUPPORT GROUP LEADEREmily MedinaWest Des Moines, IA(515) 727-8713E-mail: [email protected]/chapters/EmilyMedina/default.aspx

— KANSAS —AMBASSADORJalean RetzlaffPark City, KS(316) 303-2351E-mail: [email protected]/chapters/Retzlaff/default.aspx

— KENTUCKY —AMBASSADORJanice JohnsonBrownsville, KY(270) 597-3854www.ataxia.org/chapters/JaniceJohnson/default.aspx

— LOUISIANA —LOUISIANA CHAPTER PRESIDENTElizabeth TannerBaton Rouge, LA(225) 241-3745E-mail: [email protected]/chapters/Louisiana/default.aspx

— MAINE —MAINE SUPPORT GROUP LEADERKelley RollinsBowdoinham, MEE-mail: [email protected]/chapters/Maine/default.aspx

— MARYLAND —CHESAPEAKE CHAPTER PRESIDENTCarolyn DavisVienna, VA(703) 759-2008E-mail: [email protected]/chapters/Chesapeake/default.aspxJOHNS HOPKINS ATAXIA SUPPORT GROUP LEADERBailey Vernon, Health EducatorBaltimore, MD(410) 616-2811E-mail: [email protected]/chapters/JHASG/default.aspxAMBASSADORKaren RosenbergerFrederick, MD(301) 682-5386E-mail: [email protected]/chapters/KarenRosenberger/default.aspx

— MASSACHUSETTS —BOSTON AREA SUPPORT GROUP LEADERSDonna and Richard Gorzela

Andover, MA(978) 475-8072E-mail: [email protected]/chapters/Boston/default.aspxCENTRAL MA SUPPORT GROUP LEADERSJohn and Dana Mauro Jr.Auburn, MA(508) 736-6084E-mail: [email protected]: [email protected]/chapters/CentralMA/default.aspx

— MICHIGAN —DETROIT AREA SUPPORT GROUP LEADERTanya TunstullDetroit, MI(313) 397-7858E-mail: [email protected]/chapters/Detroit/default.aspxWESTERN MICHIGAN SUPPORT GROUP LEADERLynn K. BallGrand Rapids, MI(616) 735-2303E-mail: [email protected]/chapters/LynnBall/default.aspx

— MINNESOTA —CENTRAL MN SUPPORT GROUP LEADERMarsha BinneboseSt. Cloud, MN(320) 240-9851E-mail: [email protected]/chapters/Binnebose/default.aspxTWIN CITIES AREA SUPPORT GROUP LEADERLenore Healey SchultzMinneapolis, MN(612) 724-3784E-mail: [email protected]/chapters/TwinCities/default.aspxAMBASSADORSJulie SchuurLuverne, MN(507) 283-2555E-mail: [email protected]/chapters/JulieSchuur/default.aspxLori GoetzmanRochester, MN(507) 282-7127E-mail: [email protected]/chapters/LoriGoetzman/default.aspx

— MISSISSIPPI —MISSISSIPPI CHAPTER PRESIDENTCamille DaglioHattiesburg, MSE-mail: [email protected]/chapters/Mississippi/default.aspx

— MISSOURI —KANSAS CITY SUPPORT GROUP LEADERSJim Clark




Gladstone, MO(816) 468-7260E-mail: [email protected]/chapters/KansasCity/default.aspxLois GoodmanIndependence, MO(816) 257-2428www.ataxia.org/chapters/KansasCity/default.aspxAMBASSADORSRoger CooleyColumbia, MO(573) 474-7232 before noonE-mail: [email protected]/chapters/RogerCooley/default.aspxSarah “Janeen” RheineckerSaint Louis, MO(417) 379-3799E-mail: [email protected]/chapters/Rheinecker/default.aspxSusan L. Strode, PhDJefferson City, MO(573) 659-4759E-mail: [email protected]/chapters/Strode/default.aspx

— NEVADA —AMBASSADORBernie ChippolettiLas Vegas, NV(702) 362-8774 ext. 0E-mail: [email protected]/chapters/LasVegas/default.aspx

— NEW HAMPSHIRE —NEW HAMPSHIRE SUPPORT GROUP LEADERJill PorterManchester, NH(603) 626-0129E-mail: [email protected]/chapters/Bedford/default.aspx

— NEW JERSEY —TRI-STATE SUPPORT GROUP LEADERDenise Mitchell(914) 720-2179E-mail: [email protected]/chapters/Tri-State/default.aspxAMBASSADORPriya MansukhaniBridgewater, NJ(908) 685-8805E-mail: [email protected]/chapters/NewJersey/default.aspx

— NEW YORK —CENTRAL NEW YORK SUPPORT GROUP LEADERMary Jane DamianoN. Syracuse, NYJudy TarrantsFabius, NY

Home: (315) 683-9486 Cell: (315) 706-6555E-mail: [email protected]/chapters/CentralNewYork/default.aspxTRI-STATE SUPPORT GROUP LEADERDenise Mitchell(914) 720-2179E-mail: [email protected]/chapters/Tri-State/default.aspx

— NORTH CAROLINA —TARHEEL SUPPORT GROUP LEADERSJerry HauserAdvance, NC(336) 998-2942E-mail: [email protected] BryantCary, NC(513) 543-9563E-mail: [email protected]/chapters/Tarheel/default.aspx

— OHIO —GREATER CINCINNATI AREA SUPPORT GROUP LEADERSJennifer MuellerCincinnati, OH(513) 834-7138E-mail: [email protected] SorianoCincinnati, OH(513) 899-1195E-mail: [email protected]/chapters/JenniferM/default.aspxCLEVELAND AREA SUPPORT GROUP LEADERCarmen PieragastiniWillowick, OH(216) 272-5588E-mail: [email protected]/chapters/Carmen/default.aspx

— OKLAHOMA —OKLAHOMA SUPPORT GROUP LEADERDarrell OwensBartlesville, OK(918) 331-9530E-mail: [email protected]/chapters/DarrellOwens/default.aspx

— OREGON —WILLAMETTE VALLEY SUPPORT GROUP LEADERIvy Stilwell, CCC-SLPAlbany, OR(541) 812-4162 Fax: (541) 812-4614E-mail: [email protected]/chapters/Willamette/default.aspx

— PENNSYLVANIA —CENTRAL PA SUPPORT GROUP LEADERChristina RakshysAllentown, PA(610) 395-6905E-mail: [email protected]/chapters/Rakshys/default.aspx

�

NAF DirectoryContinued from page 47


SOUTHEAST PENNSYLVANIA SUPPORT GROUP LEADERLiz NussearNorristown, PA(610) 272-1502E-mail: [email protected]/chapters/SEPennsylvania/default.aspxAMBASSADORSDonna EibenSouth Park, PA(412) 655-4091E-mail: [email protected]/chapters/SouthPark/default.aspxMichael CammerDowningtown, PA(610) 873-1852E-mail: [email protected]/chapters/Cammer/default.aspx

— SOUTH CAROLINA —AMBASSADORBrad ForthGreenville, SC(864) 415-8147E-mail: [email protected]/chapters/Greenville/default.aspx

— TENNESSEE —MIDDLE TN AREA SUPPORT GROUP LEADERVicki TylerNashville, TN(615) 646-3024E-mail: [email protected]/chapters/VickiTyler/default.aspx

— TEXAS —NORTH TEXAS SUPPORT GROUP LEADERDavid Henry Jr.Trophy Club, TX(817) 491-4573E-mail: [email protected]/chapters/NorthTexas/default.aspxAMBASSADORSDana LeBlancOrange, TX(409) 883-5570E-mail: [email protected]: http://ladyd1973.tripod.com/index.htmlwww.ataxia.org/chapters/GoldenTriangle/default.aspxDavid BrunnertCypress, TX(713) 578-0607E-mail: [email protected]/chapters/Brunnert/default.aspxDebra WhitcombEl Paso, TX(915) 329-0721E-mail: [email protected]/chapters/Whitcomb/default.aspx

— UTAH —UTAH SUPPORT GROUP LEADERSDr. Lisa Ord, PhD, LCSWSalt Lake City, UT(801) 585-6635

E-mail: [email protected]/chapters/Utah/default.aspxGrant BeutlerE-mail: [email protected]

— VIRGINIA —CHESAPEAKE CHAPTER PRESIDENTCarolyn DavisVienna, VA(703) 759-2008E-mail: [email protected]/chapters/Chesapeake/default.aspx

— WASHINGTON —SEATTLE AREA SUPPORT GROUP LEADERMilly LewendonKirkland, WA(425) 823-6239E-mail: [email protected]/chapters/Seattle/default.aspxAMBASSADORLinda JacoySpokane, WA(509) 482-8501E-mail: [email protected]/chapters/Spokane/default.aspx

InternationalSupport Groups & Ambassadors

— CANADA —AMBASSADORSPrentis ClairmontOttawa, Ontario(613) 864-8545E-mail: [email protected]/chapters/PrentisClairmont/default.aspxSusan M. DuncanOttawa, Ontario(613) 820-7990E-mail: [email protected]/chapters/SusanDuncan/default.aspxTerry GreenwoodWinnipeg, Manitoba(204) 488-4155E-mail: [email protected]/chapters/TerryGreenwood/default.aspx

— INDIA —INDIA SUPPORT GROUP LEADER (SAMAG)Chandu Prasad George. CH,Hyderabad, Secunderabad, IndiaMobile: 0091-9949019410 +9885199918E-mail: [email protected]

[email protected]/chapters/Chandu/default.aspxPlease visit our website: www.ataxia.inhttp://seekamiracleataxiagroupindia-samagindia.webs.com


Please help us keep your information and schedulesup-to-date by e-mailing updates to [email protected].

�


SUPPORT GROUP MEETINGS

— Wednesday, October 9, 2013 —Willamette Valley Ataxia Support Group MeetingTime: 11:30 a.m. – 1 p.m.Location: Albany General Hospital, 1046 Sixth Ave.SW, Albany, OR 97321Details: For more information contact Ivy Stilwellat (541) 812-4162 or [email protected].

— Saturday, October 12, 2013 —Central MN Ataxia Support Group MeetingTime: 10 a.m. – noonLocation: Liberty Savings Bank (1st Floor Commu-nity Room), 111 Seventh Ave. S., St. Cloud, MN.Entrance is in the rear of building for mobilityissues.Details: For more information please contactMarsha Binnebose at (320) 248-9851 or [email protected] City Ataxia Support Group MeetingTime: 2 – 4 p.m.Location: Northeast Library, 6000 Wilson Rd.,Kansas City, MODetails: For more information contact Lois Good-man at (816) 257-2428 or Jim Clark at (816) 468-7260.North Texas Ataxia Support Group MeetingTime: 10 a.m. – noonLocation: Las Colinas Cancer Center, 7415 LasColinas Blvd., Irving, TX 75039. The parking is freeand the building is handicap accessible (behindthe Regions Bank).Details: For additional information contact DavidHenry Jr. at [email protected].

— Saturday, October 19, 2013 —Delaware Area Ataxia Support Group MeetingTime: 10 a.m. – 1 p. m.Location: Christiana Hospital, Newark, DEDetails: Guest speaker will be Carol Barnett, whohas over 30 years experience working with theDivision of Services for Aging and Adults with Phys-ical Disabilities for the State of Delaware. For moreinformation contact Joe DeCrescenzo at (302)369-9287 or [email protected] Area Ataxia Support Group MeetingTime: 1 – 4 p.m.

Location: The Spruce C meeting room at theSwedish Medical Center, 501 E. Hampden Ave.,Englewood, CO 80113Details: For more information contact CharlotteDePew at (720) 379-6887 or [email protected].

Middle Tennessee AreaAtaxia Support Group MeetingTime: 2 p.m.Location: Amerigo Restaurant, Cool Springs, TNDetails: For more information, contact Vicki Tylerat (615) 646-3024 or [email protected].

Orange County Ataxia Support Group MeetingTime: 2 – 4 p.m.Location: The Orange Coast Memorial MedicalCenter, Breast Center Building, Room 1A, 9900Talbert Ave., Fountain Valley, CA 92708Details: For more information contact Daniel Navarat (323) 788-7751 or [email protected].

Twin Cities Ataxia Support Group MeetingTime: 10 a.m.Location: Langton Place in Roseville at 1910 W.County Rd. D, Roseville, MN 55112Details: Please join us and make new connections.For more information contact Lenore HealeySchultz at (612) 724-3784 or [email protected].

— Tuesday, October 22, 2013 —Cleveland Area Ataxia Support Group MeetingTime: 6:30 – 7:30 p.m.Location: Mayfield Branch – Cuyahoga CountyLibrary, medium conference room, 500 SOM Cen-ter Rd., Mayfield Hts., OHDetails: For more information or to RSVP contactCarmen Pieragastini at (216) 272-5588 or [email protected].

— Saturday, October 26, 2013 —Alabama Ataxia Support Group MeetingTime: 10 a.m. – 2 p.m.Location: Covenant Presbyterian Church, Home-wood, ALDetails: For more information, contact BeckyDonnelly at (205) 987-2883 or [email protected].


Calendar of EventsThe most current event information is available on the NAF website, www.ataxia.org.

�


mailto:[email protected]



[email protected]




Central PA Ataxia Support Group MeetingTime: Noon – 2 p.m.Location: Muhlenberg Community Library, 612Kutztown Rd., Laureldale, PA 19605Details: For more information contact ChrisRakshys at (610) 395-6905 [email protected] Area Ataxia Support Group MeetingTime: 1 – 4 p.m.Location: The Barbara Ann Karmanos CancerInstitute at Wayne State University in the WartsClassroom, 4100 John R St., Detroit, MI 48201Details: For more information contact TanyaTunstull at (313) 397-7858 or [email protected] Hampshire Ataxia Support Group MeetingTime: 10 a.m. – noonLocation: Hannafords at the Bedford ShoppingMall, 5 Colby Ct., Bedford, NH 03110, (603) 625-5431Details: For more information contact Jill andKen Porter at (603) 626-0129 or [email protected].

— Monday, October 28, 2013 —Cleveland Area Ataxia Support Group MeetingTime: 6:30-7:30 p.m.Location: Brook Park – Cuyahoga County Library,large conference room, 6155 Engle Rd., BrookPark, OHDetails: For more information or to RSVP contactCarmen Pieragastini at (216) 272-5588 or [email protected].

— Saturday, November 2, 2013 —Greater Atlanta Ataxia Support Group MeetingTime: 1 p.m.Location: Emory Center for Rehabilitation Medi-cine, 1441 Clifton Rd. NE, Room 101, Atlanta, GADetails: For more information contact the GreaterAtlanta Support Group at [email protected] Area Ataxia Support Group MeetingTime: Noon – 3:00 p.m.Location: Yawkey Bldg 2nd floor, room 220 atMass. General Hospital.Details: For more information or to RSVP contactDonna Gorzela at (978) 475-8072 (home), (978)490-9552 (cell), or [email protected] Florida Ataxia Support Group MeetingTime: 2 – 4 p.m.Location: Baptist South Hospital. Azalea, Begoniaand Camellia conference rooms

Details: For more information contact Steve andCarole Brown at (352) 591-5095 or [email protected] Central FloridaAtaxia Support Group MeetingTime: 12:30 – 3 p.m.Location: The Morsani Center, 13330 USF LaurelDr. #1013, Tampa, FL 33612Details: Election of Officers. For more informationcontact Cindy Steever-Ziegler at (239) 878-3092or www4ataxia@ yahoo.com.

— Saturday, November 9, 2013 —Central MN Ataxia Support Group MeetingTime: 10 a.m. – noonLocation: Liberty Savings Bank (1st Floor Commu-nity Room), 111 Seventh Ave. S., St. Cloud, MN.Entrance is in the rear of building for mobilityissues.Details: For more information please contactMarsha Binnebose at (320) 248-9851 or [email protected] Angeles Ataxia Support GroupPicnic/ConcertTime: 2 – 4 p.m.Location: Northridge Hospital, 18300 RoscoeBlvd., Northridge, CA 91328Details: Dr. Brent Fogel will be the guest speaker.For more information or to RSVP contact SherryMcLaughlin at (626) 791-1558 or [email protected] Texas Ataxia Support Group MeetingTime: 10 a.m. – noonLocation: Las Colinas Cancer Center, 7415 LasColinas Blvd., Irving, TX 75039. The parking is freeand the building is handicap accessible (behind theRegions Bank).Details: For additional information contact DavidHenry Jr. at [email protected].

— Wednesday, November 13, 2013 —Willamette Valley Ataxia Support Group MeetingTime: 11:30 a.m. – 1 p.m.Location: Albany General Hospital, 1046 Sixth Ave.SW, Albany, OR 97321Details: For more information contact Ivy Stilwellat (541) 812-4162 or [email protected].

— Thursday, November 14, 2013 —Tri-State Ataxia Support Group Meeting













Time: 6:30 – 8:30 p.m.Location: Beth Israel Medical Center, PhillipsAmbulatory Care Center (PACC), Second Floor Con-ference Room (Room 3), 10 Union Square East,New York, NY 10003Details: For more information contact DeniseMitchell at [email protected] or KathyGingerelli at [email protected].

— Saturday, November 16, 2013 —Twin Cities Ataxia Support Group MeetingTime: 10 a.m.Location: Langton Place in Roseville at 1910 W.County Rd. D, Roseville, MN. 55112Details: Please join us and make new connections.For more information contact Lenore HealeySchultz at (612) 724-3784 or [email protected].

— Saturday, November 23, 2013 —JHU Ataxia Support Group MeetingTime: Noon - 2 p.m.Location: Johns Hopkins at Green Spring StationPavilion II, 1st floor conference room behind thecafé, 10753 Falls Rd., Lutherville, MD 21093Details: Guest speaker: Jennifer Millar, PT, JohnsHopkins Physical Therapist. For more informationcontact Bailey Vernon, Health Educator, at (410)616-2811 or [email protected]. Please RSVP ifplanning to attend.New Hampshire Ataxia Support Group MeetingTime: 10 a.m. – noonLocation: Hannafords at the Bedford ShoppingMall, 5 Colby Ct., Bedford, NH 03110, (603) 625-5431.Details: For more information contact Jill Porter at(603) 626-0129 or [email protected].

— Saturday, December 7, 2013 —Greater Atlanta Ataxia Support Group MeetingTime: 1 p.m.Location: Emory Center for Rehabilitation Medi-cine, 1441 Clifton Rd. NE, Room 101, Atlanta, GADetails: For more information contact the GreaterAtlanta Support Group at [email protected] County and L.A. Ataxia Support GroupsJoint Holiday GatheringTime: 2:00 p.m.Location: Alpine Village Restaurant, 833 Torrance

Blvd., Torrance, CA 90502Details: For more information contact Daniel Navarat (323) 788-7751 or [email protected].

— Wednesday, December 11, 2013 —Willamette Valley Ataxia Support Group MeetingTime: 11:30 a.m. – 1 p.m.Location: Albany General Hospital, 1046 Sixth Ave.SW, Albany, OR 97321Details: For more information contact Ivy Stilwellat (541) 812-4162 or [email protected].

— Saturday, December 14, 2013 —Central MN Ataxia Support Group MeetingTime: 10 a.m. – NoonLocation: Liberty Savings Bank (1st Floor Commu-nity Room), 111 Seventh Ave. S., St. Cloud, MN.Entrance is in the rear of building for mobilityissues.Details: For more information please contactMarsha Binnebose at (320) 248-9851 or [email protected] City Ataxia Support GroupMeeting and Holiday LuncheonTime: 2 – 4 p.m.Location: Northeast Library, 6000 Wilson Rd.,Kansas City, MODetails: For more information contact Lois Good-man at (816) 257-2428 or Jim Clark at (816) 468-7260.North Texas Ataxia Support Group MeetingTime: 10 a.m. – noonLocation: Las Colinas Cancer Center, 7415 LasColinas Blvd., Irving, TX 75039. The parking is freeand the building is handicap accessible (behind theRegions Bank).Details: For additional information contact DavidHenry Jr. at [email protected].

— Saturday, December 21, 2013 —Twin Cities Ataxia Support Group MeetingTime: 10 a.m.Location: Langton Place in Roseville at 1910 WestCounty Rd. D, Roseville, MN. 55112Details: Please join us and make new connections.For more information contact Lenore HealeySchultz at (612) 724-3784 or [email protected].

Saturday, December 28, 2013Detroit Area Ataxia Support Group MeetingTime: 1 – 4 p.m.Location: The Barbara Ann Karmanos Cancer �

Calendar of EventsContinued from page 51







Institute at Wayne State University in the WartsClassroom, 4100 John R St., Detroit, MI 48201Details: For more information contact TanyaTunstull at (313) 397-7858 or [email protected] Hampshire Ataxia Support GroupLunch MeetingTime: 11:30 a.m. for lunchLocation: The Puritan Back Room,Manchester, NHDetails: Join us and help us help each other. Formore information contact Jill Porter at (603) 626-0129 or [email protected].

INFORMATIONAL ANDAWARENESS EVENTS

— Saturday, October 5, 2013 —Central MassachusettsThird Annual Walk n’ Roll for AtaxiaIAAD Event and FundraiserTime: Registration 9 – 10 a.m. Walk starts at 10a.m.Location: Lamanski Park (aka Rocketland), Auburn,MADetails: Event registration is free. All registrantsreceive a complimentary event T-shirt. All proceedsbenefit the National Ataxia Foundation. To volun-teer or for more information visit the event websiteor contact John Mauro at (508)736-6084 or [email protected]. www.ataxia.org/walk/auburn

— Saturday, October 12, 2013 —“The Lou” Annual Lou ColettiMemorial Golf TournamentTime: 12:30 p.m.Location: Bellair Country Club, Country Club Lane,Bellair, FL 33756-2098.

Details: For more information or to participatecontact Scott Coletti at (727) 372-0091 or [email protected]. All proceeds benefit the NationalAtaxia Foundation.

— Saturday, October 19, 2013 —Tea Time for AtaxiaTime: 11 a.m. – 1 p.m. and 1:30 – 3:30 p.m.Location: The Aubrey Rose Tea Room, La Mesa, CADetails: Please help us fill the tea room at bothsittings. Ask your friends to join you and plan nowto attend. The cost is $35 per person. All proceedsbenefit the National Ataxia Foundation. For moreinformation contact Jane Jaffe at (619) 286-9745or [email protected].

— Friday-Sunday, November 22-24, 2013 —Abilities ExpoTime: Friday and Saturday 11 a.m. – 5 p.m., Sun-day 11 a.m. – 4 p.m.Location: San Jose McEnery Convention Center,San Jose, CADetails: Admission is free. www.abilitiesexpo.com

— Saturday, February 22, 2014 —Ataxia Caregivers ConferenceTime: 9:00 a.m. – 3:00 p.m.Location: Grace Fellowship Church at 9505Deereco Rd., Lutherville-Timonium, MD 21093Description: This event is for family and friendswho care for those with ataxia. There will be sev-eral presentations and facilitated discussions oncoping skills, future planning, communication, andstrategies for providing care.RSVP: Pre-registration is required by February 18.Bailey Vernon, Health Educator, (410) 616-2811 [email protected].


�

NAF’s Travel Grant ProgramNeeds Your SupportFor those with ataxia, traveling to the National Ataxia Foundation’s Annual Meeting (AMM) may

be financially difficult.Our travel Grant programwas created to assist individuals with someof the costs associated with attending the AMM.You can help an individual attend the AMMbymaking a donation toour Travel Grant Program today! Simply designate your donation tothe AMMTravel Grant Fund to make an impact.We thank you for your support and for making the AMMexperiencepossible for an individual affected by ataxia whomay not have been able

to attend without your help.

�





Cheryl AckermanPaul AielloDavid AlessiCrystal AllsoppGlenn AndersonDavid AshleySharon BaggettJeffery BarberiStephen BarthJohn BatesSharon BaumanGerald BenderJerry BenderDonald BeneskiTheresa BentSandee BerstJoseph BlackFred BlasbergCarol BrandDonald BrittLouise BrownDavid BrownSrRuth BuckleyAlice BuergmeyerBarbara CallKenny CanterBenjamin CantorTerrence CarrollPhyllis CelioBob ChaplinWilliam ChweeJoAnn CiecierskiEugene ClarkBen ClevengerKaren CocquytCoffey FamilyCatleen CoffeyJoe CoffeyRoger CooleyScott CooperCarol CornellBruno CorsiniBill CovertCatherine CovertElizabeth Cox

Mrs. Harold CrawfordClarence CrossleyRuss CrystalRussell CrystalBeatriz DalferroMary DansonCathy DeCrescenzoJoseph DeCrescenzoMichelle DeLaroskyBernadette DeLucaDeMint FamilyGretchen DenigerConnie DiVincentisTom DolanFred DonnellyRick DonnellyOlivia DouglassDenise DrakeNaomi DrozAndrew EgeressyDaniel EustacheTrinity FalkVincent FerrantiKevin FlemingRita FlemingCindy FondulisLigaya FredianiSteve FredianiAlbert FreiTerry FreyPenny GolminasBrenda GranerLawrence GranerLarsen GregoryRichard GregoryTrish GreshamBradd GuenserSean GuilbeauAnnie Gulliver-ReedHarriet HaasMadonna HaaseSarah HaleBernice HartleyMary HartmannGary Hartrsock

John HaysHelen HenryDavid Henry Jr.David Henry Sr.Alice HicksGeorge HicksDewayne HiteJohnny HoganHsi-Hsien HuCharlene HughesKrista HumesHoward HunniusDorothy JaberJessica JerkeKerry JohnsonTerry JohnsonYvonne JohnsonDick JoyceRichard JoyceKeiko KainNorman KarasJames KardosLisa KelsoErin KiermamJamie KosierackiPatty KosierackiSteve Kozan FamilyMary LaphamRuth LappLealan LaRocheGerlad LaukhufLorrie LaukhufJen LeaderJim LehrTony LewendonSteven LiefPhyllis LindbergBernice LinneroothDoug LinneroothPeggy LittlejohnRita LobascioJoyce LokkenMike LongKristie LoganKathleen Lowry

Walter LowryMarilynLudlow-Stevens

Adrian LundMichael LundquistCharles LuttrellMarilyn MacklinCaryn MahaffyOlivia MantovaniPatricia MarrMassanova FamilyMasserant FamilyBradley, Brent andBryan Masserant

Bud MaultraJohn MauroAlisa McFarlandEarl McLaughlin Jr.Robert McMurtryHarvey MillburgRefiye MillerEllen MoetschEarl MooreJack MooreCarol MullenDolores NagleJohn NoonanJohn NortonH.P. AvelledaWallace PeeblesMichael PeterPeterson FamilyEric PetersonGordy PfaffendorfDoris PinkstonPogulis FamilyNello PoliTed PoliVictor PoliKen PorterRita Powell-LobascioWilbur R. HackettRon RandolCharity RangerSally Ratica

Memorials and InYour HonorThe National Ataxia Foundation is grateful to those who have made contributions in memory or in

honor of their friends and families whose names are listed below. This list reflects contributions made inJune through August 2013. We are sorry that we cannot separate the memorial contributions from thosemade in honor of someone, as sometimes the person making the contribution does not let us know ifthe contribution is a memorial or in honor of their friend or family member.

�


Jim RichardsSherry RichwineGeoffrey RiefeElizabeth RileyJanet RileyDon RollheiserPatricia RymutSanta Croce FamilyAce Santa CroceFrederick Santa CroceDonald Santa Croce Jr.Tom SathreBobbi SaundersEd Schmidt

Mary SchmidtBruce SchneiderJohn SchooleyJoe SchottDerek SemlerDana SimpsonRayland SkalaKathryn SmithersJoey StaigerCharles StebbinsRollin StoddardDavid SummersTom SummersKyle Swier

Ernest TalaricoTiffinayTalarico-Compiano

Deane TaylorKaren TaylorPatricia TobiasAymeeTorres-Michels

Margaret TsengNancy Van TwuyverCletusVasconcellos

Janet VealAnna Vibberts

Eleanor VibbertsMary ViscidoLaura VolkerJeanne WalterOwen WalterAimee WentzellJeff WentzellDavid WestrickConnie WolffLee WyckoffSophie YiTaylor YoungMonica YurongJon Zilles


�

International Ataxia Awareness Day—Wednesday, September 25, 2013—

How Did You Participate in IAAD?Tell us how you recognized International Ataxia Awareness Day (IAAD) this year. Sharea photo with us to be included in a future issue ofGenerations. Please e-mail your story/phototo [email protected] or mail to the National Ataxia Foundation, Attn:Generations Editor, 2600Fernbrook Lane, Suite 119, Minneapolis, MN 55447-4752.Sharing your stories on how the day was recognized could live on in a future issueof Generations. Please send us your articles, photos, and proclamations so the entire NAFcommunity can relive this historic day. Thank you.

Thank you to all those recognizing IAAD with your ataxia awareness efforts. Becauseof your efforts the world is better informed about ataxia and those affected by ataxia.


Non-ProfitOrganizationU.S. PostagePAID

Madison, SDPermit No. 32

National Ataxia Foundation2600 Fernbrook Lane, Suite119Minneapolis, MN 55447-4752(763) 553-0020

GIFT – HONOR – MEMORIALA contribution given in memory of a friend orrelative is a thoughtful and lasting tribute, asare gifts to honor your friends or family. AGift Membership is a wonderful gift to a friendor relative for special occasions like birthdays,graduations, anniversaries, and holidays. NAFwill acknowledge your gift without reference tothe amount.Simply fill out this form and mail with your checkor credit card information to the National AtaxiaFoundation.Honor/Memorial envelopes are available free ofcharge by writing or calling NAF.My contribution is:� In Memory � In Honor � Gift Membership

Name ________________________________Occasion _____________________________

Send Acknowledgment Card to:Name ________________________________Address ______________________________City/State/Zip __________________________

From:Name ________________________________Address ______________________________City/State/Zip __________________________

MEMBERSHIPYes, I want to help fight ataxia! Enclosed is mymembership donation. (Gifts in US Dollars)� Lifetime membership $500Annual memberships:� Patron membership $100-$499� Professional membership $55� Individual $35� Household $55� Addresses outside the U.S. please add $15Name ________________________________Address ______________________________City/State/Zip __________________________Phone ________________________________E-Mail ________________________________

� Yes, sign me up for NAF e-mails

Is your address correct?Are you receiving more than one issue ofGenerations? If there are any changesthat need to be made, please call NAF at (763) 553-0020 or e-mail [email protected]. Thank you!

PAYMENT INFORMATIONGifts are tax deductible under the fullest extent of the law.� Check. Please make payable to the

National Ataxia Foundation.Total Amount Enclosed $ ________________Credit Card: � Visa �MasterCard �DiscoverName on Card ________________________Card #_______________________________Exp. Date________________ CVV # ______Signature ____________________________Phone Number ________________________

41-3

Gen_1303_45-56.qxp:Layout 1 9/25/13 12:48 PM

generations - national ataxia foundation · generations...

Documents