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Neurology Genetics An Official Journal of the American Academy of Neurology Neurology.org/ng • Online ISSN: 2376-7839 Volume 3, Number 4, August 2017 Genetics Functionally pathogenic ExACtly zero or once: Clinical and experimental EARS2 variants in vitro A clinically helpful guide studies of a novel P525R may not manifest a to assessing genetic FUS mutation in amyotrophic phenotype in vivo variants in mild epilepsies lateral sclerosis Table of Contents Neurology.org/ng Online ISSN: 2376-7839 Volume 3, Number 4, August 2017 THE HELIX e171 Autopsy case of the C12orf65 mutation in a patient e175 What does phenotype have to do with it? with signs of mitochondrial dysfunction S.M. Pulst H. Nishihara, M. Omoto, M. Takao, Y. Higuchi, M. Koga, M. Kawai, H. Kawano, E. Ikeda, H. Takashima, and T. Kanda EDITORIAL e173 This variant alters protein function, but is it pathogenic? M. Pandolfo e174 Prevalence of spinocerebellar ataxia 36 in a US Companion article, e162 population J.M. Valera, T. Diaz, L.E. Petty, B. Quintáns, Z. Yáñez, ARTICLES E. Boerwinkle, D. Muzny, D. Akhmedov, R. Berdeaux, e162 Functionally pathogenic EARS2 variants in vitro may M.J. Sobrido, R. Gibbs, J.R. Lupski, D.H. Geschwind, not manifest a phenotype in vivo S. Perlman, J.E. Below, and B.L. Fogel N. McNeill, A. Nasca, A. Reyes, B. Lemoine, B. Cantarel, A. Vanderver, R. Schiffmann, and D. Ghezzi Editorial, e173 e170 Loss-of-function variants of SCN8A in intellectual disability without seizures e163 ExACtly zero or once: A clinically helpful guide to J.L. Wagnon, B.S. Barker, M. Ottolini, Y. Park, assessing genetic variants in mild epilepsies A. Volkheimer, P. Valdez, M.E.M. Swinkels, C.A. Bennett, S. Petrovski, K.L. Oliver, and S.F. Berkovic M.K. Patel, and M.H. Meisler e161 Abnormal expression of homeobox genes and e172 Clinical and experimental studies of a novel transthyretin in C9ORF72 expansion carriers P525R FUS mutation in amyotrophic lateral N.A. Finch, X. Wang, M.C. Baker, M.G. Heckman, sclerosis T.F. Gendron, K.F. Bieniek, J. Wuu, L. Kuang, M. Kamelgarn, A. Arenas, J. Gal, D. Taylor, M. DeJesus-Hernandez, P.H. Brown, J. Chew, W. Gong, M. Brown, D. St. Clair, E.J. Kasarskis, and K.R. Jansen-West, L.M. Daughrity, A.M. Nicholson, H. Zhu M.E. Murray, K.A. Josephs, J.E. Parisi, D.S. Knopman, R.C. Petersen, L. Petrucelli, B.F. Boeve, N.R. Graff-Radford, Y.W. Asmann, D.W. Dickson, e166 Brain calcifications and PCDH12 variants M. Benatar, R. Bowser, K.B. Boylan, G. Nicolas, M. Sanchez-Contreras, E.M. Ramos, R. Rademakers, and M. van Blitterswijk R.R. Lemos, J. Ferreira, D. Moura, M.J. Sobrido, A.-C. Richard, A.R. Lopez, A. Legati, J.-F. Deleuze, A. Boland, O. Quenez, P. Krystkowiak, P. Favrole, e164 Comparing sequencing assays and human-machine D.H. Geschwind, A. Aran, R. Segel, E. Levy-Lahad, analyses in actionable genomics for glioblastoma D.W. Dickson, G. Coppola, R. Rademakers, and K.O. Wrzeszczynski, M.O. Frank, T. Koyama, J.R.M. de Oliveira K. Rhrissorrakrai, N. Robine, F. Utro, A.-K. Emde, B.-J. Chen, K. Arora, M. Shah, V. Vacic, R. Norel, E. Bilal, E.A. Bergmann, J.L. Moore Vogel, J.N. Bruce, e176 UNC5C variants are associated with cerebral A.B. Lassman, P. Canoll, C. Grommes, S. Harvey, amyloid angiopathy L. Parida, V.V. Michelini, M.C. Zody, V. Jobanputra, H.-S. Yang, C.C. White, L.B. Chibnik, H.-U. Klein, A.K. Royyuru, and R.B. Darnell J.A. Schneider, D.A. Bennett, and P.L. De Jager Table of Contents continued CLINICAL/SCIENTIFIC NOTES e167 Novel fukutin mutations in limb-girdle muscular e169 Updated nomenclature for human and mouse dystrophy type 2M with childhood onset neurofibromatosis type 1 genes M. Smogavec, J. Zschüntzsch, W. Kress, J. Mohr, C. Anastasaki, L.Q. Le, R.A. Kesterson, and D.H. Gutmann P. Hellen, B. Zoll, S. Pauli, and J. Schmidt e168 Homozygous mutation in HSPB1 causing distal e165 Brainstem phenotype of cathepsin A–related vacuolar myopathy and motor neuropathy arteriopathy with strokes and leukoencephalopathy E. Bugiardini, A.M. Rossor, D.S. Lynch, M. Swash, Y.T. Hwang, R. Lakshmanan, I. Davagnanam, A.M. Pittman, J.C. Blake, M.G. Hanna, H. Houlden, A.G.B. Thompson, D.S. Lynch, H. Houlden, N. Bajaj, J.L. Holton, M.M. Reilly, and E. Matthews S.H. Eriksson, D.-E. Bamiou, and J.D. Warren Podcast Video LOE classification LOE recommendation tinyurl.com/NeurologyNG twitter.com/GreenJournal Cover image: The binding details of the C-terminus of FUS and Trn1. P525 and Y526 of FUS (cyan) and L419, I457, W460 and D384 of Trn1 are shown in sticks. Trn1 is shown in static electric surface mode, in which the colors of red, blue, and green represent negative charge, positive charge, and hydrophobicity, respectively. See “Clinical and experimental studies of a novel P525R FUS mutation in amyotrophic lateral sclerosis.” Neurology.org/ng Online ISSN: 2376-7839 Volume 3, Number 4, August 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 4, August 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.
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