Volume 6, Number 3, June 2020 Neurology.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 Officers Neurology® is a registered trademark of the American Academy of Neurology (registration valid in the United States). James C. Stevens, MD, FAAN, President Neurology® Genetics (eISSN 2376-7839) is an open access journal published Orly Avitzur, MD, MBA, FAAN, President Elect online for the American Academy of Neurology, 201 Chicago Avenue, Ann H. 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Ratliff, MD, Deputy Podcast Editor Ombudsman Jonathan W. Mink, MD, PhD, FAAN Scientific Integrity Advisor David S. Knopman, MD, FAAN Copyright ª 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited. TABLE OF CONTENTS Volume 6, Number 3, June, 2020 Neurology.org/NG The Helix e424 TGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35 e438 The Helix: Editorial Changes Y. Chen, D. Wu, B. Luo, G. Zhao, and K. Wang S.M. Pulst Open Access Open Access e425 Expanding the phenotypic and molecular spectrum of Editorial RNA polymerase III–related leukodystrophy e436 Intronic pentanucleotide expansion in the replication S. Perrier, L. Gauquelin, C. Fallet-Bianco, M.K. Dishop, RFC1 M.A. Michell-Robinson, L.T. Tran, K. Guerrero, L. Darbelli, M. Srour, factor 1 gene ( ) is a major cause of adult-onset K. Petrecca, D.L. Renaud, M. Saito, S. Cohen, S. Leiz, B. Alhaddad, ataxia T.B. Haack, I. Tejera-Martin, F.I. Monton, N. Rodriguez-Espinosa, D. Pohl, S. Nageswaran, A. Grefe, E. Glamuzina, and G. Bernard S.M. Boesch and M.A. Nance Open Access Open Access e426 Phenotypic variability in chorea-acanthocytosis Articles associated with novel VPS13A mutations e414 Neuraxial dysraphism in EPAS1-associated syndrome V. Niemel¨a, A. Salih, D. Solea, B. Lindvall, J. Weinberg, G. Miltenberger, T. Granberg, A. Tzovla, L. Nordin, T. Danfors, due to improper mesenchymal transition I. Savitcheva, N. Dahl, and M. Paucar J.S. Rosenblum, A.J. Cappadona, D.P. Argersinger, Y. Pang, H. Wang, Open Access 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 e428 Mutations in the m-AAA proteases AFG3L2 Open Access and SPG7 are causing isolated dominant optic atrophy e415 Neurologic outcomes in Friedreich ataxia: Study of M. Charif, A. Chevrollier, N. Gueguen, C. Bris, D. Gouden`ege, a single-site cohort V. Desquiret-Dumas, S. Leruez, E.Colin,A.Meunier,C.Vignal, V. Smirnov, S. Defoort-Dhellemmes, I. Drumare Bouvet, M. Pandolfo C. Goizet, M. Votruba, N. Jurkute, P. Yu-Wai-Man, F. Tagliavini, Open Access L. Caporali, C. La Morgia, V. Carelli, V. Procaccio, X. Zanlonghi, I. Meunier, P. Reynier, D. Bonneau, P. Amati-Bonneau, and e416 Polygenic risk scores of several subtypes of epilepsies G. Lenaers in a founder population Open Access C. Moreau, R.-M. R´ebillard, S. Wolking, J. Michaud, F. Tremblay, e430 A. Girard, J. Bouchard, B. Minassian, C. Laprise, P. Cossette, and Genotyping single nucleotide polymorphisms for S.L. Girard allele-selective therapy in Huntington disease Open Access D.O. Claassen, J. Corey-Bloom, E.R. Dorsey, M. Edmondson, S.K. Kostyk, M.S. LeDoux, R. Reilmann, H.D. Rosas, F. Walker, e417 Clinical and pathologic phenotype of a large family V. Wheelock, N. Svrzikapa, K.A. Longo, J. Goyal, S. Hung, and M.A. Panzara with heterozygous STUB1 mutation Open Access M.O. Mol, J.G.J. van