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Nngv3n5-Issue-Text-Proof.Pdf An Official Journal of the American Academy of Neurology Neurology.org/ng • Online ISSN: 2376-7839 Volume 3, Number 5, October 2017 Genetics Moderate blast exposure Design and rationale for Genome-wide scan alters gene expression examining neuroimaging in Hispanics highlights and levels of amyloid genetics in ischemic stroke: candidate loci for precursor protein the MRI-GENIE study brain white matter hyperintensities Table of Contents Neurology.org/ng Online ISSN: 2376-7839 Volume 3, Number 5, October 2017 EDITORIAL e195 No rare deleterious variants from STK32B, e196 Genomic links between blast exposure, brain injury, PPARGC1A,andCTNNA3 are associated with and Alzheimer disease essential tremor Y.P. Conley and R. Diaz-Arrastia G. Houle, A. Ambalavanan, J.-F. Schmouth, Companion article, e186 C.S. Leblond, D. Spiegelman, S.B. Laurent, C.V. Bourassa, C. Grayson, M. Panisset, S. Chouinard, ARTICLES N. Dupré, C. Vilariño-Güell, A. Rajput, S.L. Girard, e186 Moderate blast exposure alters gene expression and P.A. Dion, and G.A. Rouleau levels of amyloid precursor protein J. Gill, A. Cashion, N. Osier, L. Arcurio, V. Motamedi, K.C. Dell, W. Carr, H.-S. Kim, S. Yun, P. Walker, e183 Ataxia-pancytopenia syndrome with SAMD9L S. Ahlers, M. LoPresti, and A. Yarnell mutations Editorial, e196 S. Gorcenco, J. Komulainen-Ebrahim, K. Nordborg, M. Suo-Palosaari, S. Andréasson, J. Krüger, e177 Whole-exome sequencing associates novel C. Nilsson, U. Kjellström, E. Rahikkala, CSMD1 gene mutations with familial Parkinson D. Turkiewicz, M. Karlberg, L. Nilsson, disease J. Cammenga, U. Tedgård, J. Davidsson, J. Ruiz-Martínez, L.J. Azcona, A. Bergareche, J. Uusimaa, and A. Puschmann J.F. Martí-Massó, and C. Paisán-Ruiz e184 IBA57 mutations abrogate iron-sulfur cluster e178 Ultra-rare mutations in SRCAP segregate in assembly leading to cavitating Caribbean Hispanic families with Alzheimer leukoencephalopathy disease A. Ishiyama, C. Sakai, Y. Matsushima, S. Noguchi, B.N. Vardarajan, G. Tosto, R. Lefort, L. Yu, S. Mitsuhashi, Y. Endo, Y.K. Hayashi, Y. Saito, D.A. Bennett, P.L. De Jager, S. Barral, E. Nakagawa, H. Komaki, K. Sugai, M. Sasaki, N. Sato, D. Reyes-Dumeyer, P.L. Nagy, J.H. Lee, R. Cheng, I. Nonaka, Y.-i. Goto, and I. Nishino M. Medrano, R. Lantigua, E. Rogaeva, P. St George-Hyslop, and R. Mayeux e185 Genome-wide scan in Hispanics highlights candidate loci for brain white matter e180 Design and rationale for examining neuroimaging hyperintensities genetics in ischemic stroke: The MRI-GENIE study A. Beecham, C. Dong, C.B. Wright, N. Dueker, A.-K. Giese, M.D. Schirmer, K.L. Donahue, L. Cloonan, A.M. Brickman, L. Wang, C. DeCarli, R. Irie, S. Winzeck, M.J.R.J. Bouts, E.C. McIntosh, S.H. Blanton, T. Rundek, R. Mayeux, and S.J. Mocking, A.V. Dalca, R. Sridharan, H. Xu, P. Frid, R.L. Sacco E. Giralt-Steinhauer, L. Holmegaard, J. Roquer, J. Wasselius, J.W. Cole, P.F. McArdle, J.P. Broderick, J. Jimenez-Conde, C. Jern, B.M. Kissela, e187 De novo CTBP1 variant is associated with D.O. Kleindorfer, R. Lemmens, A. Lindgren, decreased mitochondrial respiratory chain J.F. Meschia, T. Rundek, R.L. Sacco, R. Schmidt, activities P. Sharma, A. Slowik, V. Thijs, D. Woo, B.B. Worrall, E.W. Sommerville, C.L. Alston, A. Pyle, L. He, S.J. Kittner, B.D. Mitchell, J. Rosand, P. Golland, G. Falkous, K. Naismith, P.F. Chinnery, O. Wu, and N.S. Rost, On behalf of MRI-GENIE R. McFarland, and R.W. Taylor Table of Contents continued e192 Children with 59-end NF1 gene mutations are more e189 Hyperventilation-athetosis in ASXL3 deficiency likely to have glioma (Bainbridge-Ropers) syndrome C. Anastasaki, S.M. Morris, F. Gao, and D.H. Gutmann R. Dad, S. Walker, S.W. Scherer, M.J. Hassan, S.Y. Kang, and B.A. Minassian CLINICAL/SCIENTIFIC NOTES e179 Novel AMPD2 mutation in pontocerebellar hypoplasia, e190 ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic dysmorphisms, and teeth abnormalities lateral sclerosis family with a C9orf72 expansion A. Accogli, M. Iacomino, F. Pinto, A. Orsini, M.S. Vari, S.M.K. Farhan, T.F. Gendron, L. Petrucelli, R. Selmi, A. Torella, V. Nigro, C. Minetti, M. Severino, R.A. Hegele, and M.J. Strong P. Striano, V. Capra, and F. Zara e191 Cervical artery dissection and iliac artery aneurysm e181 Novel POLG variants associated with late-onset in an SMAD-4 mutation carrier de novo status epilepticus and progressive ataxia E. Wiener, P. Martin, S. Mehta, and H.S. Markus Y.S. Ng, H. Powell, N. Hoggard, D.M. Turnbull, R.W. Taylor, and M. Hadjivassiliou e193 Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus e182 Novel intronic mutation in MTM1 detected by RNA M.J. Barrett, E.S. Williams, C. Chambers, and analysis in a case of X-linked myotubular R. Dhamija myopathy A. Al-Hashim, H.D. Gonorazky, K. Amburgey, ’ S. Das, and J.J. Dowling e194 The Alzheimer s Disease Sequencing Project: Study design and sample selection G.W. Beecham, J.C. Bis, E.R. Martin, S.-H. Choi, e188 Nonsyndromic Parkinson disease in a family with A.L. DeStefano, C.M. van Duijn, M. Fornage, Autosomal Dominant Optic Atrophy due to OPA1 S.B. Gabriel, D.C. Koboldt, D.E. Larson, A.C. Naj, mutations B.M. Psaty, W. Salerno, W.S. Bush, T.M. Foroud, D.S. Lynch, S.H.Y. Loh, J. Harley, A.J. Noyce, E. Wijsman, L.A. Farrer, A. Goate, J.L. Haines, L.M. Martins, N.W. Wood, H. Houlden, and M.A. Pericak-Vance, E. Boerwinkle, R. Mayeux, H. Plun-Favreau S. Seshadri, and G. Schellenberg Podcast Video LOE classification LOE recommendation tinyurl.com/NeurologyNG twitter.com/GreenJournal Cover image: Confocal microscopy image of the mitochondrial network in fibroblasts cultured from an unaffected family member. In affected patients, the mitochondrial network was significantly fragmented. See “Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations.” Neurology.org/ng Online ISSN: 2376-7839 Volume 3, Number 5, October 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 5, October 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 Podcast Editor Deputy Editors University of Virginia Neurology Charlottesville, VA Bradford B. Worrall, MD, MSc, FAAN Andrew M. Southerland, MD, MSc 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. 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