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Table of Contents Neurology.org/ng Online ISSN: 2376-7839 Volume 2, Number 3, June 2016 ARTICLES e64 Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities F. Alkufri, A. Shaag, B. Abu-Libdeh, and O. Elpeleg e68 Spinocerebellar ataxia type 36 in the Han Chinese Y.-C. Lee, P.-C. Tsai, Y.-C. Guo, C.-T. Hsiao, G.-T. Liu, Y.-C. Liao, and B.-W. Soong e71 Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci F. He, J.M. Jones, C. Figueroa-Romero, D. Zhang, E.L. Feldman, S.A. Goutman, M.H. Meisler, B.C. Callaghan, and P.K. Todd e70 Parkinson disease (PARK) genes are somatically mutated in cutaneous melanoma R. Inzelberg, Y. Samuels, E. Azizi, N. Qutob, L. Inzelberg, E. Domany, E. Schechtman, and E. Friedman e69 Clinical and genetic features of cervical dystonia in a large multicenter cohort M.S. LeDoux, S.R. Vemula, J. Xiao, M.M. Thompson, J.S. Perlmutter, L.J. Wright, H.A. Jinnah, A.R. Rosen, P. Hedera, C.L. Comella, A. Weissbach, J. Junker, J. Jankovic, R.L. Barbano, S.G. Reich, R.L. Rodriguez, B.D. Berman, S. Chouinard, L. Severt, P. Agarwal, and N.P. Stover, on behalf of the Dystonia Coalition Investigators, Dystonia Genetic Consortium e72 DNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is decient L. Wang, L. Maldonado, G.W. Beecham, E.R. Martin, M.L. Evatt, J.C. Ritchie, J.L. Haines, C.P. Zabetian, H. Payami, M.A. Pericak-Vance, J.M. Vance, and W.K. Scott e73 Genomic mechanisms underlying PARK2 large deletions identied in a cohort of patients with PD S. Morais, R. Bastos-Ferreira, J. Sequeiros, and I. Alonso e80 Dening the spectrum of frontotemporal dementias associated with TARDBP mutations P. Caroppo, A. Camuzat, L. Guillot-Noel, C. Thomas-Antérion, P. Couratier, T.H. Wong, M. Teichmann, V. Gol er, S. Auriacombe, S. Belliard, B. Laurent, S. Lattante, S. Millecamps, F. Clot, B. Dubois, J.C. van Swieten, A. Brice, and I. Le Ber e76 Mutation of TBCK causes a rare recessive developmental disorder R.J. Guerreiro, R. Brown, D. Dian, C. de Goede, J. Bras, and S.E. Mole e75 Next-generation proling to identify the molecular etiology of Parkinson dementia A. Henderson-Smith, J.J. Corneveaux, M. De Both, L. Cuyugan, W.S. Liang, M. Huentelman, C. Adler, E. Driver-Dunckley, T.G. Beach, and T.L. Dunckley e79 ABCA7 frameshift deletion associated with Alzheimer disease in African Americans H.N. Cukier, B.W. Kunkle, B.N. Vardarajan, S. Rolati, K.L. Hamilton-Nelson, M.A. Kohli, P.L. Whitehead, B.A. Dombroski, D. Van Booven, R. Lang, D.M. Dykxhoorn, L.A. Farrer, M.L. Cuccaro, J.M. Vance, J.R. Gilbert, G.W. Beecham, E.R. Martin, R.M. Carney, R. Mayeux, G.D. Schellenberg, G.S. Byrd, J.L. Haines, and M.A. Pericak-Vance, for the Alzheimers Disease Genetics Consortium CLINICAL/SCIENTIFIC NOTES e77 White matter involvement in a family with a novel PDGFB mutation R. Biancheri, M. Severino, A. Robbiano, M. Iacomino, M. Del Sette, C. Minetti, M. Cervasio, M. Del Basso De Caro, P. Striano, and F. Zara ª 2016 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

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Table of ContentsNeurology.org/ng � Online ISSN: 2376-7839Volume 2, Number 3, June 2016

ARTICLES

e64 Deleterious mutation in GPR88 is associatedwith chorea, speech delay, and learning disabilitiesF. Alkufri, A. Shaag, B. Abu-Libdeh, and O. Elpeleg

e68 Spinocerebellar ataxia type 36 in the Han ChineseY.-C. Lee, P.-C. Tsai, Y.-C. Guo, C.-T. Hsiao, G.-T. Liu,Y.-C. Liao, and B.-W. Soong

e71 Screening for novel hexanucleotide repeat expansionsat ALS- and FTD-associated lociF. He, J.M. Jones, C. Figueroa-Romero, D. Zhang,E.L. Feldman, S.A. Goutman, M.H. Meisler,B.C. Callaghan, and P.K. Todd

e70 Parkinson disease (PARK) genes are somaticallymutated in cutaneous melanomaR. Inzelberg, Y. Samuels, E. Azizi, N. Qutob, L. Inzelberg,E. Domany, E. Schechtman, and E. Friedman

e69 Clinical and genetic features of cervical dystonia ina large multicenter cohortM.S. LeDoux, S.R. Vemula, J. Xiao, M.M. Thompson,J.S. Perlmutter, L.J. Wright, H.A. Jinnah, A.R. Rosen,P. Hedera, C.L. Comella, A. Weissbach, J. Junker,J. Jankovic, R.L. Barbano, S.G. Reich, R.L. Rodriguez,B.D. Berman, S. Chouinard, L. Severt, P. Agarwal, andN.P. Stover, on behalf of the Dystonia CoalitionInvestigators, Dystonia Genetic Consortium

e72 DNA variants in CACNA1C modify Parkinson diseaserisk only when vitamin D level is deficientL. Wang, L. Maldonado, G.W. Beecham, E.R. Martin,M.L. Evatt, J.C. Ritchie, J.L. Haines, C.P. Zabetian,H. Payami, M.A. Pericak-Vance, J.M. Vance, andW.K. Scott

e73 Genomic mechanisms underlying PARK2 largedeletions identified in a cohort of patients with PDS. Morais, R. Bastos-Ferreira, J. Sequeiros, andI. Alonso

e80 Defining the spectrum of frontotemporal dementiasassociated with TARDBP mutationsP. Caroppo, A. Camuzat, L. Guillot-Noel,C. Thomas-Antérion, P. Couratier, T.H. Wong,M. Teichmann, V. Golfier, S. Auriacombe,S. Belliard, B. Laurent, S. Lattante, S. Millecamps,F. Clot, B. Dubois, J.C. van Swieten, A. Brice, andI. Le Ber

e76 Mutation of TBCK causes a rare recessivedevelopmental disorderR.J. Guerreiro, R. Brown, D. Dian, C. de Goede, J. Bras,and S.E. Mole

e75 Next-generation profiling to identify the molecularetiology of Parkinson dementiaA. Henderson-Smith, J.J. Corneveaux,M. De Both, L. Cuyugan, W.S. Liang, M. Huentelman,C. Adler, E. Driver-Dunckley, T.G. Beach, andT.L. Dunckley

e79 ABCA7 frameshift deletion associated with Alzheimerdisease in African AmericansH.N. Cukier, B.W. Kunkle, B.N. Vardarajan,S. Rolati, K.L. Hamilton-Nelson, M.A. Kohli,P.L. Whitehead, B.A. Dombroski, D. Van Booven,R. Lang, D.M. Dykxhoorn, L.A. Farrer,M.L. Cuccaro, J.M. Vance, J.R. Gilbert,G.W. Beecham, E.R. Martin, R.M. Carney, R. Mayeux,G.D. Schellenberg, G.S. Byrd, J.L. Haines, andM.A. Pericak-Vance, for the Alzheimer’s DiseaseGenetics Consortium

CLINICAL/SCIENTIFIC NOTES

e77 White matter involvement in a family with a novelPDGFB mutationR. Biancheri, M. Severino, A. Robbiano,M. Iacomino, M. Del Sette, C. Minetti,M. Cervasio, M. Del Basso De Caro, P. Striano, andF. Zara

ª 2016 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

e74 FTL mutation in a Chinese pedigree withneuroferritinopathyW. Ni, H.-F. Li, Y.-C. Zheng, and Z.-Y. Wu

e78 Homozygous GNAL mutation associated with familialchildhood-onset generalized dystoniaI.Masuho,M.Fang,C.Geng,J.Zhang,H.Jiang,R.K.Özgul,D.Y. Yılmaz,D.Yalnızo�glu, D. Yüksel, A. Yarrow,A.Myers,S.C. Burn, P.L. Crotwell, S. Padilla-Lopez, A. Dursun,K.A. Martemyanov, and M.C. Kruer

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Cover image:BrainECD-SPECTandFDG-PETshowing characteristics ofTARDBP carriers. See“Defining the spectrum of frontotemporal dementias associated with TARDBPmutations.”

Table of Contentscontinued

ª 2016 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

Neurology.org/ng � Online ISSN: 2376-7839Volume 2, Number 3, June 2016

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Neurology.org/ng � Online ISSN: 2376-7839Volume 2, Number 3, June 2016

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