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Asfmr1splice Variant: a Predictor of Fragile X-Associated Tremor/Ataxia

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Asfmr1splice Variant: a Predictor of Fragile X-Associated Tremor/Ataxia Volume 4, Number 4, August 2018 Neurology.org/NG A peer-reviewed clinical and translational neurology open access journal ARTICLE ASFMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome e246 ARTICLE Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene e252 ARTICLE SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology e255 ARTICLE Longitudinal analysis of contrast acuity in Friedreich ataxia e250 Academy Officers Neurology® is a registered trademark of the American Academy of Neurology (registration valid in the United States). Ralph L. Sacco, MD, MS, FAAN, President Neurology® Genetics (eISSN 2376-7839) is an open access journal published James C. Stevens, MD, FAAN, President Elect online for the American Academy of Neurology, 201 Chicago Avenue, Ann H. Tilton, MD, FAAN, Vice President Minneapolis, MN 55415, by Wolters Kluwer Health, Inc. at 14700 Citicorp Drive, Bldg. 3, Hagerstown, MD 21742. Business offices are located at Two Carlayne E. Jackson, MD, FAAN, Secretary Commerce Square, 2001 Market Street, Philadelphia, PA 19103. Production offices are located at 351 West Camden Street, Baltimore, MD 21201-2436. Janis M. Miyasaki, MD, MEd, FRCPC, FAAN, Treasurer © 2018 American Academy of Neurology. Terrence L. Cascino, MD, FAAN, Past President Neurology® Genetics is an official journal of the American Academy of Neurology. Journal website: Neurology.org/ng, AAN website: AAN.com Executive Office, American Academy of Neurology Copyright and Permission Information: Please go to the journal website (www.neurology.org/ng) and click the Permissions tab for the relevant Catherine M. Rydell, CAE, Executive Director/CEO article. Alternatively, send an email to [email protected]. 20l Chicago Ave General information about permissions can be found here: https://shop.lww.com/ journal-permission. Minneapolis, MN 55415 Disclaimer: Opinions expressed by the authors and advertisers are not Tel: 612-928-6000 necessarily those of the American Academy of Neurology, its affiliates, or of the Publisher. The American Academy of Neurology, its affiliates, and the Publisher disclaim any liability to any party for the accuracy, completeness, Editorial Office efficacy, or availability of the material contained in this publication (including drug dosages) or for any damages arising out of the use Patricia K. Baskin, MS, Executive Editor or non-use of any of the material contained in this publication. Kathleen M. Pieper, Senior Managing Editor, Neurology Advertising Sales Representatives: Wolters Kluwer, 333 Seventh Avenue, Lee Ann Kleffman, Managing Editor, Neurology: Genetics New York, NY 10001. Contacts: Eileen Henry, tel: 732-778-2261, fax: 973-215- 2485, [email protected] and in Europe: Avia Potashnik, Wolters Sharon L. Quimby, Managing Editor, Neurology® Clinical Practice Kluwer, tel: +44 207 981 0722; +44 7919 397 933 or e-mail: avia.potashnik@ Morgan S. Sorenson, Managing Editor, Neurology® Neuroimmunology & Neuroinflammation wolterskluwer.com. Careers & Events: Monique McLaughlin, Wolters Kluwer, Two Commerce Cynthia S. Abair, MA, Senior Graphics Editor Square, 2001 Market Street, Philadelphia, PA 19103, tel: 215-521-8468, fax: 215- Andrea R. Rahkola, Production Editor, Neurology 521-8801; [email protected]. Robert J. Witherow, Senior Editorial Associate Reprints: Meredith Edelman, Commercial Reprint Sales, Wolters Kluwer, Two Commerce Square, 2001 Market Street, Philadelphia, PA 19103, tel: 215-356-2721; Karen Skaja, Senior Editorial Associate [email protected]; [email protected]. Kaitlyn Aman Ramm, Editorial Assistant Special projects: US & Canada: Alan Moore, Wolters Kluwer, Two Kristen Swendsrud, Editorial Assistant Commerce Square, 2001 Market Street, Philadelphia, PA 19103, tel: 215-521-8638, [email protected]. International: Andrew Andrea Willgohs, Editorial Assistant Wible, Senior Manager, Rights, Licensing, and Partnerships, Wolters Kluwer; [email protected]. Publisher Wolters Kluwer Baltimore, MD Publishing Staff Kim Jansen, Executive Publisher Jessica Heise, Production Team Leader, Neurology Journals Megen Miller, Production Editor Steve Rose, Editorial Assistant Stacy Drossner, Production Associate A peer-reviewed clinical and translational neurology open access journal Neurology.org/NG Neurology® Genetics Editor Stefan M. Pulst, MD, Dr med, FAAN Vision Neurology®: Genetics will be the premier peer- reviewed journal in the field of neurogenetics. Deputy Editor Massimo Pandolfo, MD, FAAN Mission Neurology: Genetics will provide neurologists Associate Editors with outstanding original contributions that Alexandra Durr, MD, PhD elucidate the role of genetic and epigenetic Margherita Milone, MD, PhD variation in diseases and biological traits of Raymond P. Roos, MD, FAAN the central and peripheral nervous systems. Jeffery M. Vance, MD, PhD Editorial Board Editorial Tel: 612-928-6400 Hilary Coon, PhD Giovanni Coppola, MD Inquiries Toll-free: 800-957-3182 (US) ChantalDepondt, MD, PhD Fax: 612-454-2748 Brent L. Fogel, MD, PhD, FAAN [email protected] AnthonyJ. Griswold, PhD Orhun H. Kantarci, MD Julie R. Korenberg, PhD, MD Stay facebook.com/NeurologyGenetics MargheritaMilone, MD, PhD Connected Davide Pareyson, MD twitter.com/greenjournal Shoji Tsuji, MD,PhD DinekeS. Verbeek,PhD youtube.com/user/NeurologyJournal David Viskochil, MD,PhD JulianeWinkelmann, MD Juan I. Young, PhD Neurology® Journals Editor-in-Chief Classification of Evidence Robert A. Gross, MD, PhD, FAAN Review Team Melissa J. Armstrong, MD Deputy Editor Richard L. Barbano, MD,PhD, FAAN Bradford B. Worrall, MD, MSc, FAAN RichardM.Dubinsky,MD,MPH,FAAN Jeffrey J. Fletcher, MD, MSc Section Editors Gary M. Franklin, MD, MPH, FAAN David S. Gloss II, MD,MPH&TM Biostatistics John J. Halperin, MD,FAAN Richard J. Kryscio, PhD Jason Lazarou, MSc, MD Christopher A. Beck, PhD Steven R. Mess´e, MD, FAAN Sue Leurgans, PhD Pushpa Narayanaswami, MBBS, DM, FAAN fi Classi cation of Evidence Evaluations Alex Rae-Grant, MD Gary S. Gronseth, MD, FAAN Podcasts Stacey L. Clardy, MD, PhD Jeffrey B. Ratliff, MD, Deputy Podcast Editor Ombudsman David S. Knopman, MD, FAAN Scientific Integrity Advisor Robert B. Daroff, MD, FAAN TABLE OF CONTENTS Volume 4, Number 4, August 2018 Neurology.org/NG e250 Longitudinal analysis of contrast acuity in Friedreich ataxia A.G. Hamedani, L.A. Hauser, S. Perlman, K. Mathews, G.R. Wilmot, T. Zesiewicz, S.H. Subramony, T. Ashizawa, M.B. Delatycki, A. Brocht, and D.R. Lynch Open Access e249 Population genealogy resource shows evidence of familial clustering for Alzheimer disease L.A. Cannon-Albright, S. Dintelman, T. Maness, J. Cerny, A. Thomas, S. Backus, J.M. Farnham, C.C. Teerlink, J. Contreras, J.S.K. Kauwe, and L.J. Meyer Open Access e253 Impaired transmissibility of atypical prions from genetic CJDG114V I. Cali, F. Mikhail, K. Qin, C. Gregory, A. Solanki, M.C. Martinez, L. Zhao, B. Appleby, P. Gambetti, E. Norstrom, and J.A. Mastrianni Open Access e255 SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology R. Castoro, M. Simmons, V. Ravi, D. Huang, C. Lee, J. Sergent, L. Zhou, and J. Li Open Access e256 Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy M.S. King, K. Thompson, S. Hopton, L. He, E.R.S. Kunji, R.W. Taylor, and X.R. Ortiz-Gonzalez Open Access e254 Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber Editorial hypertrophy C. Hedberg-Oldfors, C. Lindberg, and A. Oldfors e247 These violent repeats have violent extends Open Access J. Couthouis and A.D. Gitler Open Access Companion article, e252 e251 Axon reflex–mediated vasodilation is reduced in proportion to disease severity in Articles TTR-FAP e252 Noncoding repeat expansions for ALS in Japan are I. Calero-Romero, M.R. Suter, B. Waeber, F. Feihl, and associated with the ATXN8OS gene T. Kuntzer Open Access M. Hirano, M. Samukawa, C. Isono, K. Saigoh, Y. Nakamura, and S. Kusunoki e257 Association study between multiple system atrophy Open Access Editorial, e247 and TREM2 p.R47H e246 ASFMR1 splice variant: A predictor of fragile K. Ogaki, M.G. Heckman, S. Koga, Y.A. Martens, C. Labb´e, O. Lorenzo-Betancor, R.L. Walton, A.I. Soto, E.R. Vargas, X-associated tremor/ataxia syndrome S. Fujioka, R.J. Uitti, J.A. van Gerpen, W.P. Cheshire, S.G. Younkin, P. Vittal, S. Pandya, K. Sharp, E. Berry-Kravis, L. Zhou, B. Ouyang, Z.K. Wszolek, P.A. Low, W. Singer, G. Bu, D.W. Dickson, and J. Jackson, and D.A. Hall O.A. Ross Open Access Open Access TABLE OF CONTENTS Volume 4, Number 4, August 2018 Neurology.org/NG e262 Confirming TDP2 mutation in spinocerebellar ataxia e261 Independent NF1 mutations underlie caf´e-au-lait autosomal recessive 23 (SCAR23) macule development in a woman with segmental G. Zagnoli-Vieira, F. Bruni, K. Thompson, L. He, S. Walker, NF1 A.P.M. de Brouwer, R. Taylor, D. Niyazov, and K.W. Caldecott M.E. Freret, C. Anastasaki, and D.H. Gutmann Open Access Open Access Clinical/Scientific Notes e263 Novel ELOVL4 mutation associated with e248 Atypical Alexander disease with dystonia, retinopathy, erythrokeratodermia and spinocerebellar ataxia and a brain mass mimicking astrocytoma (SCA 34) P.R. Bourque, J. Warman-Chardon, D.A. Lelli, L. LaBerge, C. Kirshen, K. Machol, J. Jankovic, D. Vijayakumar, L.C. Burrage, M. Jain, S.H. Bradshaw, T. Hartley, and K.M. Boycott R.A. Lewis, G.N. Fuller, M. Xu, M. Penas-Prado, M.K. Gule-Monroe, J.A. Rosenfeld, R. Chen, C.M. Eng, Y. Yang, B.H. Lee, Open Access P.M. Moretti, Undiagnosed Diseases Network, and S.U. Dhar Open Access e258 De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity E. Ladds, A. Whitney, E. Dombi, M. Hofer, G. Anand, V. Harrison, C. Fratter, J. Carver, I.A. Barbosa, M. Simpson, S. Jayawant, and J. Poulton Open Access e259 GLRA1 mutation and long-term follow-up of the Cover image first hyperekplexia family Agarose gel electrophoretic analysis for the ATXN8OS gene in patients. Three patients had expansions of the CTA/CTG repeat as indicated, M. Paucar, J.
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