lww nng nngcover 6 3 - ng.neurology.org › content › nng › 6 › 3.toc.pdf · neurology®...
TRANSCRIPT
Volume 6, Number 3, June 2020Neurology.org/NG
A peer-reviewed clinical and translational neurology open access journal
ARTICLE
Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort e415
ARTICLE
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort e440
ARTICLE
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy e428
ARTICLE
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases e434
Academy OfficersJames C. Stevens, MD, FAAN, PresidentOrly Avitzur, MD, MBA, FAAN, President ElectAnn H. Tilton, MD, FAAN, Vice PresidentCarlayne E. Jackson, MD, FAAN, SecretaryJanis M. Miyasaki, MD, MEd, FRCPC, FAAN, TreasurerRalph L. Sacco, MD, MS, FAAN, Past President
CEO, American Academy of NeurologyMary E. Post, MBA, CAEChief Executive Officer20l Chicago AveMinneapolis, MN 55415Tel: 612-928-6000
Editorial OfficePatricia K. Baskin, MS, Executive EditorRachel A. Anderson, Administrative Assistant
Morgan S. Sorenson, Managing EditorNeurology® Neuroimmunology & NeuroinflammationNeurology® Genetics
Kathleen M. Pieper, Senior Managing Editor, Neurology®Karen Skaja, Senior Editorial CoordinatorSkyler M. Kane, Editorial CoordinatorMargaret A. Rei, Editorial Coordinator
Lee Ann Kleffman, Managing Editor, Neurology® Clinical Practice
Andrea Rahkola, Production EditorKristen Swendsrud, Production Coordinator
Sharon L. Quimby, Digital Managing EditorKaitlyn Aman Ramm, Digital Multimedia/Graphics CoordinatorJustin Daugherty, Digital Multimedia/Podcast CoordinatorMadeleine Sendek, MPH, Digital Marketing Communications Coordinator
PublisherWolters KluwerBaltimore, MD
Publishing StaffSarah Carrera, MBA, Executive PublisherJessica Heise, Production Team Leader, Neurology JournalsMegen Miller, Production EditorSteve Rose, Editorial AssistantStacy Drossner, Production Associate
Neurology® is a registered trademark of the American Academy of Neurology(registration valid in the United States).
Neurology® Genetics (eISSN 2376-7839) is an open access journal publishedonline for the American Academy of Neurology, 201 Chicago Avenue,Minneapolis, MN 55415, by Wolters Kluwer Health, Inc. at 14700 CiticorpDrive, Bldg. 3, Hagerstown, MD 21742. Business offices are located at TwoCommerce Square, 2001 Market Street, Philadelphia, PA 19103. Productionoffices are located at 351 West Camden Street, Baltimore, MD 21201-2436.© 2020 American Academy of Neurology.
Neurology® Genetics is an official journal of the American Academy ofNeurology. Journal website: Neurology.org/ng, AAN website: AAN.com
Copyright and Permission Information: Please go to the journal website(www.neurology.org/ng) and click the Permissions tab for the relevantarticle. Alternatively, send an email to [email protected] information about permissions can be found here: https://shop.lww.com/journal-permission.
Disclaimer: Opinions expressed by the authors and advertisers are notnecessarily those of the American Academy of Neurology, its affiliates, or ofthe Publisher. The American Academy of Neurology, its affiliates, and thePublisher disclaim any liability to any party for the accuracy, completeness,efficacy, or availability of the material contained in this publication(including drug dosages) or for any damages arising out of the useor non-use of any of the material contained in this publication.
Advertising Sales Representatives: Wolters Kluwer, 333 Seventh Avenue,New York, NY 10001. Contacts: Eileen Henry, tel: 732-778-2261, fax: 973-215-2485, [email protected] and in Europe: Craig Silver, tel: +447855 062 550 or e-mail: [email protected].
Careers & Events:Monique McLaughlin, Wolters Kluwer, Two CommerceSquare, 2001Market Street, Philadelphia, PA 19103, tel: 215-521-8468, fax: 215-521-8801; [email protected].
Reprints:Meredith Edelman, Commercial Reprint Sales, Wolters Kluwer, TwoCommerce Square, 2001Market Street, Philadelphia, PA 19103, tel: 215-356-2721;[email protected]; [email protected].
Special projects: US & Canada: Alan Moore, Wolters Kluwer, TwoCommerce Square, 2001 Market Street, Philadelphia, PA 19103, tel:215-521-8638, [email protected]. International: AndrewWible, Senior Manager, Rights, Licensing, and Partnerships, Wolters Kluwer;[email protected].
A peer-reviewed clinical and translational neurology open access journal Neurology.org/NG
Neurology® Genetics
EditorStefan M. Pulst, MD, Dr med, FAAN
Deputy EditorMassimo Pandolfo, MD, FAAN
Associate EditorsAlexandra Durr, MD, PhDSuman Jayadev, MDMargherita Milone, MD, PhDRaymond P. Roos, MD, FAAN
Editorial BoardHilaryCoon, PhDGiovanniCoppola,MDChantalDepondt,MD,PhDBrentL. Fogel,MD,PhD,FAANAnthony J.Griswold, PhDOrhunH.Kantarci,MDJulieR.Korenberg, PhD,MDDavidePareyson,MDShojiTsuji,MD,PhDDinekeS. Verbeek, PhDDavidViskochil,MD,PhDJulianeWinkelmann,MDJuan I. Young, PhD
Neurology® Journals
Editor-in-ChiefJose G. Merino, MD, MPhil, FAAN
Deputy EditorOlga Ciccarelli, MD, PhD, FRCP
Section Editors
BiostatisticsRichard J. Kryscio, PhDSue Leurgans, PhDV. Shane Pankratz, PhD
Classification of Evidence EvaluationsGary S. Gronseth, MD, FAAN
Equity, Diversity, & Inclusion (EDI)Roy H. Hamilton, MD, MS, FAANHolly E. Hinson, MD, MCR, FAAN
PodcastsStacey L. Clardy, MD, PhD, FAANJeffrey B. Ratliff, MD, Deputy Podcast Editor
OmbudsmanJonathan W. Mink, MD, PhD, FAAN
Scientific Integrity AdvisorDavid S. Knopman, MD, FAAN
Classification of EvidenceReview Team
Melissa J. Armstrong,MDRichardL.Barbano,MD,PhD,FAANRichardM.Dubinsky,MD,MPH,FAANJeffrey J. Fletcher,MD,MScGaryM.Franklin,MD,MPH,FAANDavid S.Gloss II,MD,MPH&TMJohn J.Halperin,MD,FAANJasonLazarou,MSc,MDStevenR.Messe, MD, FAANPushpaNarayanaswami,MBBS,DM,
FAANAlexRae-Grant,MD
Vision Neurology®: Genetics will be the premier peer-reviewed journal in the field of neurogenetics.
Mission Neurology: Genetics will provide neurologistsand clinical research scientists withoutstanding peer-reviewed articles,editorials, and reviews to elucidate the roleof genetic and epigenetic variations indiseases and biological traits of the centraland peripheral nervous systems.
EditorialInquiries
Tel: 612-928-6400Toll-free: 800-957-3182 (US)Fax: [email protected]
StayConnected
facebook.com/NeurologyGenetics
twitter.com/greenjournal
youtube.com/user/NeurologyJournal
instagram.com/aanbrain
TABLE OF CONTENTS Volume 6, Number 3, June, 2020 Neurology.org/NG
The Helix
e438 The Helix: Editorial ChangesS.M. Pulst
Open Access
Editorial
e436 Intronic pentanucleotide expansion in the replicationfactor 1 gene (RFC1) is amajor cause of adult-onsetataxiaS.M. Boesch and M.A. Nance
Open Access
Articles
e414 Neuraxial dysraphism in EPAS1-associated syndromedue to improper mesenchymal transitionJ.S. Rosenblum, A.J. Cappadona, D.P. Argersinger, Y. Pang, H.Wang,M.A. Nazari, J.P. Munasinghe, D.R. Donahue, A. Jha,J.G. Smirniotopoulos, M.M. Miettinen, R.H. Knutsen, B.A. Kozel,Z. Zhuang, K. Pacak, and J.D. Heiss
Open Access
e415 Neurologic outcomes in Friedreich ataxia: Study ofa single-site cohortM. Pandolfo
Open Access
e416 Polygenic risk scores of several subtypes of epilepsiesin a founder populationC. Moreau, R.-M. Rebillard, S. Wolking, J. Michaud, F. Tremblay,A. Girard, J. Bouchard, B. Minassian, C. Laprise, P. Cossette, andS.L. Girard
Open Access
e417 Clinical and pathologic phenotype of a large familywith heterozygous STUB1 mutationM.O. Mol, J.G.J. van Rooij, E. Brusse, A.J.M.H. Verkerk, S. Melhem,W.F.A. den Dunnen, P. Rizzu, C. Cupidi, J.C. van Swieten, andL. Donker Kaat
Open Access
e418 Acute encephalopathy after head trauma in a patientwith a RHOBTB2 mutationA.C.S. Knijnenburg, J. Nicolai, L.A. Bok, A. Bay, A.P.A. Stegmann,M. Sinnema, and M. Vreeburg
Open Access
e420 Cerebellar ataxia, neuropathy, hearing loss, andintellectual disability due to AIFM1 mutationM. Pandolfo, M. Rai, G. Remiche, L. Desmyter, and I. Vandernoot
Open Access
e424 TGM6 L517W is not a pathogenic variant forspinocerebellar ataxia type 35Y. Chen, D. Wu, B. Luo, G. Zhao, and K. Wang
Open Access
e425 Expanding the phenotypic and molecular spectrum ofRNA polymerase III–related leukodystrophyS. Perrier, L. Gauquelin, C. Fallet-Bianco, M.K. Dishop,M.A. Michell-Robinson, L.T. Tran, K. Guerrero, L. Darbelli, M. Srour,K. Petrecca, D.L. Renaud, M. Saito, S. Cohen, S. Leiz, B. Alhaddad,T.B. Haack, I. Tejera-Martin, F.I. Monton, N. Rodriguez-Espinosa,D. Pohl, S. Nageswaran, A. Grefe, E. Glamuzina, and G. Bernard
Open Access
e426 Phenotypic variability in chorea-acanthocytosisassociated with novel VPS13A mutationsV. Niemela, A. Salih, D. Solea, B. Lindvall, J. Weinberg,G. Miltenberger, T. Granberg, A. Tzovla, L. Nordin, T. Danfors,I. Savitcheva, N. Dahl, and M. Paucar
Open Access
e428 Mutations in the m-AAA proteases AFG3L2and SPG7 are causing isolated dominant opticatrophyM. Charif, A. Chevrollier, N. Gueguen, C. Bris, D. Goudenege,V. Desquiret-Dumas, S. Leruez, E. Colin, A. Meunier, C. Vignal,V. Smirnov, S. Defoort-Dhellemmes, I. Drumare Bouvet,C. Goizet, M. Votruba, N. Jurkute, P. Yu-Wai-Man, F. Tagliavini,L. Caporali, C. La Morgia, V. Carelli, V. Procaccio, X. Zanlonghi,I. Meunier, P. Reynier, D. Bonneau, P. Amati-Bonneau, andG. Lenaers
Open Access
e430 Genotyping single nucleotide polymorphisms forallele-selective therapy in Huntington diseaseD.O. Claassen, J. Corey-Bloom, E.R. Dorsey, M. Edmondson,S.K. Kostyk, M.S. LeDoux, R. Reilmann, H.D. Rosas, F. Walker,V. Wheelock, N. Svrzikapa, K.A. Longo, J. Goyal, S. Hung, andM.A. Panzara
Open Access
e440 Prevalence of RFC1-mediated spinocerebellar ataxiain a North American ataxia cohortD. Aboud Syriani, D. Wong, S. Andani, C.M. De Gusmao, Y. Mao,M. Sanyoura, G. Glotzer, P.J. Lockhart, S. Hassin-Baer, V. Khurana,C.M. Gomez, S. Perlman, S. Das, and B.L. Fogel
Open Access
Clinical/Scientific Notes
e423 Biallelic LINE insertion mutation in HACD1 causingcongenital myopathyF. Al Amrani, C. Gorodetsky, L.-N. Hazrati, K. Amburgey,H.D. Gonorazky, and J.J. Dowling
Open Access
e432 Expanding the phenotype ofMTOR-related disordersand the Smith-Kingsmore syndromeA. Elizondo-Plazas, M. Ibarra-Ramırez, A. Garza-Baez, andL.E. Martınez-de-Villarreal
Open Access
Views and Reviews
e434 Cerebral autosomal dominant arteriopathy withsubcortical infarcts and leukoencephalopathyrevisited: Genotype-phenotype correlations of allpublished casesG. Xiromerisiou, C. Marogianni, K. Dadouli, C. Zompola,D. Georgouli, A. Provatas, A. Theodorou, P. Zervas, C. Nikolaidou,S. Stergiou, P. Ntellas, M. Sokratous, P. Stathis, G.P. Paraskevas,A. Bonakis, K. Voumvourakis, C. Hadjichristodoulou,G.M. Hadjigeorgiou, and G. Tsivgoulis
Open Access
Cover imageEx vivo Micro-CT of EPAS1-gain-of-function Transgenic MouseModel demonstrating faulty ossification of the posterior elements ofthe cervical and thoracic spine, specifically the spinous process; thetransverse processes are similarly hypodense and there isa dysraphism of T1.See e414
TABLE OF CONTENTS Volume 6, Number 3, June, 2020 Neurology.org/NG
2020;6; Neurol Genet 6 (3)
This information is current as of January 1, 2020
ServicesUpdated Information &
http://ng.neurology.org/content/6/3.full.htmlincluding high resolution figures, can be found at:
Supplementary Material http://ng.neurology.org/content/suppl/2020/06/18/6.3.DC1
Supplementary material can be found at:
Permissions & Licensing
http://ng.neurology.org/misc/about.xhtml#permissionsfound online at:Information about reproducing this article in parts (figures,tables) or in its entirety can be
Reprints
http://ng.neurology.org/misc/addir.xhtml#reprintsusInformation about ordering reprints can be found online:
online-only, continuous publication journal. Copyright . All rights reserved. Online ISSN: 2376-7839.is an official journal of the American Academy of Neurology. Published since April 2015, it is an open-access,Neurol Genet