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Table of Contents Neurology.Org/Ng  Online ISSN: 2376-7839 Volume 3, Number 3, June 2017 Table of Contents Neurology.org/ng Online ISSN: 2376-7839 Volume 3, Number 3, June 2017 THE HELIX e151 HSP and deafness: Neurocristopathy caused by e157 Collaboration, workshops, and symposia a novel mosaic SOX10 mutation S.M. Pulst S. Donkervoort, D. Bharucha-Goebel, P. Yun, Y. Hu, P. Mohassel, A. Hoke, W.M. Zein, D. Ezzo, A.M. Atherton, A.C. Modrcin, M. Dasouki, A.R. Foley, and C.G. Bönnemann EDITORIAL e159 ARHGEF9 mutations cause a specific recognizable X-linked intellectual disability e155 Genetic analysis of age at onset variation in syndrome spinocerebellar ataxia type 2 P. Striano and F. Zara K.P. Figueroa, H. Coon, N. Santos, L. Velazquez, Companion article, e148 L.A. Mederos, and S.M. Pulst ARTICLES e158 Previously unrecognized behavioral phenotype in e148 ARHGEF9 disease: Phenotype clarification and Gaucher disease type 3 genotype-phenotype correlation M. Abdelwahab, M. Potegal, E.G. Shapiro, and M.Alber,V.M.Kalscheuer,E.Marco,E.Sherr, I. Nestrasil G. Lesca, M. Till, G. Gradek, A. Wiesener, C. Korenke, S. Mercier, F. Becker, T. Yamamoto, S.W. Scherer, C.R. Marshall, S. Walker, U.R. Dutta, A.B. Dalal, e160 Intramyocellular lipid excess in the mitochondrial V. Suckow, P. Jamali, K. Kahrizi, H. Najmabadi, and disorder MELAS: MRS determination at 7T B.A. Minassian S. Golla, J. Ren, C.R. Malloy, and J.M. Pascual Editorial, e159 e149 Clinicopathologic and molecular spectrum of CLINICAL/SCIENTIFIC NOTES RNASEH1-related mitochondrial disease e147 Camptocormia and shuffling gait due to a novel E. Bugiardini, O.V. Poole, A. Manole, A.M. Pittman, MT-TV mutation: Diagnostic pitfalls A. Horga, I. Hargreaves, C.E. Woodward, J. Reimann, D. Lehmann, S.A. Hardy, G. Falkous, M.G. Sweeney, J.L. Holton, J.-W. Taanman, G.T. Plant, C.V.Y. Knowles, R.L. Jones, W.S. Kunz, R.W. Taylor, and J. Poulton, M. Zeviani, D. Ghezzi, J. Taylor, C. Smith, C. Kornblum C. Fratter, M.A. Kanikannan, A. Paramasivam, K. Thangaraj, A. Spinazzola, I.J. Holt, H. Houlden, M.G. Hanna, and R.D.S. Pitceathly e150 SCA8 should not be tested in isolation for ataxia R.H. Roda, A.B. Schindler, and C. Blackstone e152 Intragenic DOK7 deletion detected by whole- genome sequencing in congenital myasthenic e153 Compound heterozygous mutations in MASP1 in syndromes a deaf child with absent cochlear nerves Y. Azuma, A. Töpf, T. Evangelista, P.J. Lorenzoni, E. Kari, I. Schrauwen, L. Llaci, L.M. Fisher, J.L. Go, A. Roos, P. Viana, H. Inagaki, H. Kurahashi, and M. Naymik, J.A. Knowles, M.J. Huentelman, and H. Lochmüller R.A. Friedman Table of Contents continued e154 Biallelic TOR1A variants in an infant with severe e156 Febrile ataxia and myokymia broaden the SPG26 arthrogryposis hereditary spastic paraplegia phenotype S.C. Reichert, P. Gonzalez-Alegre, and R. Dad, S. Walker, S.W. Scherer, M.J. Hassan, G.H. Scharer M.D. Alghamdi, B.A. Minassian, and R.A. Alkhater Podcast Video LOE classification LOE recommendation tinyurl.com/NeurologyNG twitter.com/GreenJournal Cover image: Ultrastructural examination of skeletal muscle showing increased numbers of mitochondria, many of which are structurally abnormal. Stylized by Kaitlyn Aman Ramm, Neurology Editorial Assistant. See “Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.” Neurology.org/ng Online ISSN: 2376-7839 Volume 3, Number 3, June 2017 fi VISION: Neurology® Genetics will be the premier peer-reviewed Executive Of ce, American Academy of Neurology fi Catherine M. Rydell, CAE, Executive Director/CEO journal in the eld of neurogenetics. 201 Chicago Ave Minneapolis, MN 55415 MISSION: Neurology: Genetics will provide neurologists with Tel: 612-928-6100 outstanding original contributions that elucidate the role of genetic and epigenetic variations in diseases and biological traits Editorial Office of the central and peripheral nervous systems. Patricia K. Baskin, MS, Executive Editor Kathleen M. Pieper, Senior Managing Editor, Neurology Editor Lee Ann Kleffman, Managing Editor, Neurology: Genetics Neurology: Genetics Sharon L. Quimby, Managing Editor, Neurology® Clinical Practice Stefan M. Pulst, MD, Dr med, FAAN Morgan S. Sorenson, Managing Editor, Neurology® Neuroimmunology & fl Professor and Chair, Department of Neurology Neuroin ammation University of Utah Cynthia S. Abair, MA, Senior Graphics Editor Salt Lake City, UT Andrea R. Rahkola, Production Editor, Neurology [email protected] Robert J. Witherow, Senior Editorial Associate Specialties: Genetics, movement disorders Karen Skaja, Senior Editorial Associate Kaitlyn Aman Ramm, Editorial Assistant Editor-in-Chief Kristen Swendsrud, Editorial Assistant Neurology® Andrea Willgohs, Editorial Assistant Robert A. Gross, MD, PhD, FAAN Professor of Neurology and of Pharmacology and Physiology Strong Epilepsy Center Publisher University of Rochester Medical Center Wolters Kluwer Rochester, NY Baltimore, MD [email protected] Editorial Inquiries Publishing Staff Tel: 612-928-6400 Kim Jansen, Executive Publisher Toll-free: 800-957-3182 (US) Alexandra Lazerow, Production Team Leader, AAN Journals Fax: 612-454-2748 Steve Rose, Editorial Assistant [email protected] Stacy Drossner, Production Associate Academy Officers Ralph L. Sacco, MD, MS, FAAN, President James C. Stevens, MD, FAAN, President Elect Ann H. Tilton, MD, FAAN, Vice President Carlayne E. Jackson, MD, FAAN, Secretary Janis M. Miyasaki, MD, MEd, FRCPC, FAAN, Treasurer Terrence L. Cascino, MD, FAAN, Past President Neurology.org/ng Online ISSN: 2376-7839 Volume 3, Number 3, June 2017 Editor Biostatistics Neurology® Genetics Richard J. Kryscio, PhD Stefan M. Pulst, MD, Dr med, FAAN University of Kentucky Professor and Chair, Department of Neurology Lexington, KY University of Utah Christopher A. Beck, PhD Salt Lake City, UT University of Rochester [email protected] Rochester, NY Specialties: Genetics, movement disorders Sue Leurgans, PhD Editor-in-Chief Rush University Medical Center Neurology® Chicago, IL Robert A. Gross, MD, PhD, FAAN Level of Evidence Evaluations Professor of Neurology and of Pharmacology and Physiology Gary S. Gronseth, MD, FAAN Strong Epilepsy Center University of Kansas University of Rochester Medical Center Kansas City, KS Rochester, NY [email protected] Podcasts Ted M. Burns, MD Deputy Editors University of Virginia Neurology Charlottesville, VA Bradford B. Worrall, MD, MSc, FAAN Andrew M. Southerland, MD, MSc, Deputy Podcast Editor Professor of Neurology and Public Health Sciences University of Virginia University of Virginia Charlottesville, VA Charlottesville, VA Ombudsman Neurology: Genetics David S. Knopman, MD, FAAN Nicholas Elwood Johnson, MD Mayo Clinic University of Utah Rochester, MN Salt Lake City, UT Specialties: Muscle diseases, patient-centered outcomes Scientific Integrity Advisor Robert B. Daroff, MD, FAAN Associate Editors Case Western Reserve University Neurology: Genetics Cleveland, OH Alexandra Durr, MD, PhD Editorial Board Hôpital de la Salpêtrière Hilary Coon, PhD, University of Utah, Salt Lake City, UT Paris, France Giovanni Coppola, MD, UCLA, Los Angeles, CA Specialties: Spastic paraplegia, Huntington disease, ataxia Chantal Depondt, MD, PhD, Université Libre de Bruxelles, Brussels, Belgium Massimo Pandolfo, MD, FAAN Brent L. Fogel, MD, PhD, FAAN, UCLA, Los Angeles, CA Hôpital Erasme Anthony J. Griswold, PhD, University of Miami, Miami, FL Université Libre de Bruxelles Orhun H. Kantarci, MD, Mayo Clinic, Rochester, MN Brussels, Belgium Julie R. Korenberg, PhD, MD, University of Utah, Salt Lake City, UT Specialties: Epilepsy, Friedreich ataxia, stem cells Margherita Milone, MD, PhD, Mayo Clinic, Rochester, MN Davide Pareyson, MD, C. Besta Neurological Institute IRCCS Foundation, Raymond P. Roos, MD, FAAN Milan, Italy University of Chicago Medical Center Shoji Tsuji, MD, PhD, University of Tokyo Graduate School of Medicine, Chicago, IL Tokyo, Japan Specialties: Motor neuron disease, prion disease, neurovirology/neuroimmunology Dineke S. Verbeek, PhD, University Medical Center Groningen, Groningen, The Netherlands Jeffery M. Vance, MD, PhD David Viskochil, MD, PhD, University of Utah, Salt Lake City, UT University of Miami Juliane Winkelmann, MD, Technische Universität München, Helmholtz Miami, FL Zentrum Münche, Munich, Germany Specialties: Parkinson, Alzheimer disease, inherited neuropathies Juan I. Young, PhD, University of Miami, Miami, FL Level of Evidence Review Team Melissa J. Armstrong, MD, Gainesville, FL Richard L. Barbano, MD, PhD, FAAN, Rochester, NY Richard M. Dubinsky, MD, MPH, FAAN, Kansas City, KS Jeffrey J. Fletcher, MD, MSc, Ann Arbor, MI Gary M. Franklin, MD, MPH, FAAN, Seattle, WA David S. Gloss II, MD, MPH&TM, Charleston, WV John J. Halperin, MD, FAAN, Summit, NJ Jason Lazarou, MSc, MD, Toronto, Ontario, Canada Steven R. Messé, MD, FAAN, Philadelphia, PA Pushpa Narayanaswami, MBBS, DM, FAAN, Boston, MA Alex Rae-Grant, MD, Cleveland, OH Neurology.org/ng Online ISSN: 2376-7839 Volume 3, Number 3, June 2017 Publication Information 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 published online for the American Academy of Neurology, 201 Chicago Avenue, Minneapolis, MN 55415, by Wolters Kluwer Health, Inc. at 14700 Citicorp Drive, Bldg. 3, Hagerstown, MD 21742. Business offices are located at Two Commerce Square, 2001 Market Street, Philadelphia, PA 19103. Production offices are located at 351 West Camden Street, Baltimore, MD 21201-2436. © 2017 American Academy of Neurology. Neurology®
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