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TABLE OF CONTENTS Volume 6, Number 1, February 2020 Neurology.org/NG
Editorial
e395 Splitting vs lumping: Does the phenotype matteranymore?S. Pavlakis
Open Access Companion article, e393
Articles
e381 Expanding the molecular and phenotypic spectrumof truncating MT-ATP6 mutationsE. Bugiardini, E. Bottani, S. Marchet, O.V. Poole, C. Beninca, A. Horga,C. Woodward, A. Lam, I. Hargreaves, A. Chalasani, A. Valerio,E. Lamantea, K. Venner, J.L. Holton, M. Zeviani, H. Houlden,R. Quinlivan, C. Lamperti, M.G. Hanna, and R.D.S. Pitceathly
Open Access
e382 Cerebral small vessel disease due to a uniqueheterozygous HTRA1 mutation in anAfrican manO.J. Oluwole, H. Ibrahim, D. Garozzo, K. Ben Hamouda,S. Ismail Mostafa Hassan, A.M. Hegazy, and A.K. Msaddi
Open Access
e385 Analysis of common and rare VPS13C variantsin late-onset Parkinson diseaseU. Rudakou, J.A. Ruskey, L. Krohn, S.B. Laurent, D. Spiegelman,L. Greenbaum, G. Yahalom, A. Desautels, J.Y. Montplaisir, S. Fahn,C.H. Waters, O. Levy, C.M. Kehoe, S. Narayan, Y. Dauvilliers, N. Dupre,S. Hassin-Baer, R.N. Alcalay, G.A. Rouleau, E.A. Fon, and Z. Gan-Or
Open Access
e386 Analysis of FUS, PFN2, TDP-43, and PLS3 aspotential disease severity modifiers in spinalmuscular atrophyR.I. Wadman, M.D. Jansen, C.A.D. Curial, E.J.N. Groen, M. Stam,C.A. Wijngaarde, J. Medic, P. Sodaar, K.R. van Eijk, M.M.H. Huibers,J. van Kuik, H.H. Lemmink, W. van Rheenen, J.H. Veldink,L.H. van den Berg, and W.L. van der Pol
Open Access
e387 Early infantile epileptic-dyskinetic encephalopathydue to biallelic PIGP mutationsA. Vetro, T. Pisano, S. Chiaro, E. Procopio, A. Guerra, E. Parrini,D. Mei, S. Virdo, G. Mangone, C. Azzari, and R. Guerrini
Open Access
e390 Incidence of pathogenic, likely pathogenic,and uncertain ALS variants in a clinic cohortJ. Roggenbuck, M. Palettas, L. Vicini, R. Patel, A. Quick, and S.J. Kolb
Open Access
e391 Deep sequencing of mitochondrial DNA andcharacterization of a novel POLG mutation ina patient with arPEOC. Hedberg-Oldfors, B. Macao, S. Basu, C. Lindberg, B. Peter,D. Erdinc, J.P. Uhler, E. Larsson, M. Falkenberg, and A. Oldfors
Open Access
e392 COL4A1-related autosomal recessive encephalopathyin 2 Turkish childrenA. Yaramis, H. Lochmuller, A. Topf, E. Sonmezler, E. Yilmaz, S. Hiz,U. Yis, S. Gungor, A. Ipek Polat, P. Edem, S. Beltran, S. Laurie,A. Yaramis, R. Horvath, and Y. Oktay
Open Access
e393 Delineating MT-ATP6-associated disease:From isolated neuropathy to early onsetneurodegenerationC. Stendel, C. Neuhofer, E. Floride, S. Yuqing, R.D. Ganetzky, J. Park,P. Freisinger, C. Kornblum, S. Kleinle, L. Schols, F. Distelmaier,G.M. Stettner, B. Buchner, M.J. Falk, J.A. Mayr, M. Synofzik, A. Abicht,T.B. Haack, H. Prokisch, S.B. Wortmann, K. Murayama, F. Fang, andT. Klopstock, on behalf of the ATP6 Study Group
Open Access Editorial, e395
e394 Neuropathologic description of CHCHD10 mutatedamyotrophic lateral sclerosisJ.L. Keith, E. Swinkin, A. Gao, S. Alminawi, M. Zhang, P. McGoldrick,P. McKeever, J. Robertson, E. Rogaeva, and L. Zinman
Open Access
e396 Biallelic mutation of HSD17B4 induces middleage–onset spinocerebellar ataxiaY. Matsuda, H. Morino, R. Miyamoto, T. Kurashige, K. Kume,N. Mizuno, Y. Kanaya, Y. Tada, R. Ohsawa, K. Yokota, N. Shimozawa,H. Maruyama, and H. Kawakami
Open Access
Clinical/Scientific Notes
e383 Hemorrhagic cerebral small vessel disease caused byanovelmutation in39UTRof collagen type IV alpha 1N. Sakai, M. Uemura, T. Kato, H. Nozaki, A. Koyama, S. Ando,H. Kamei, M. Kato, and O. Onodera
Open Access
e384 Aicardi-Goutieres syndrome due to a paternal mosaicIFIH1 mutationV. Tungler, M. Doebler-Neumann, M. Salandin, P. Kaufmann,C. Wolf, N. Lucas, F. Harmuth, J. Reichbauer, I. Krageloh-Mann,R. Schule, and M.A. Lee-Kirsch
Open Access
e388 A novel noncoding FKRP mutation in early onsetlimb-girdle muscular dystrophyE. Saylam, S.A. Moore, A. Aravindhan, H. Marton, P.L. Nagy,M. Gokden, M.O. Cox, V. Stefans, and A. Veerapandiyan
Open Access
Views and Reviews
e389 HSAN-VI: A spectrum disorder based on dystoninisoform expressionA. Lynch-Godrei and R. Kothary
Open Access
Cover imageOverlay of CHCHD10 (red) and both nonphosphorylated/phosphorylated neurofilament H (green) in a normal control. Doubleimmunolabeling in the control case confirmed cytoplasmicimmunolabeling for CHCHD10 within the anterior horn motor neuronsand showedmany small CHCHD10-positive neurites in the background.See e394
Academy OfficersJames C. Stevens, MD, FAAN, PresidentOrly Avitzur, MD, MBA, FAAN, President ElectAnn H. Tilton, MD, FAAN, Vice PresidentCarlayne E. Jackson, MD, FAAN, SecretaryJanis M. Miyasaki, MD, MEd, FRCPC, FAAN, TreasurerRalph L. Sacco, MD, MS, FAAN, Past President
Executive Office, American Academy of NeurologyCatherine M. Rydell, CAEChief Executive Officer20l Chicago AveMinneapolis, MN 55415Tel: 612-928-6000
Editorial OfficePatricia K. Baskin, MS, Executive EditorKathleen M. Pieper, Senior Managing Editor, NeurologyLee Ann Kleffman, Managing Editor, Neurology® GeneticsSharon L. Quimby, Managing Editor, Neurology® Clinical PracticeMorgan S. Sorenson, Managing Editor,Neurology® Neuroimmunology & NeuroinflammationAndrea Rahkola, Production Editor, NeurologyKaren Skaja, Senior Editorial AssociateKaitlyn Aman Ramm, Editorial AssistantKristen Swendsrud, Editorial AssistantJustin Daugherty, Editorial AssistantMadeleine Sendek, MPH, Editorial AssistantRachel A. Anderson, Administrative Assistant
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2020;6; Neurol Genet 6 (1)
This information is current as of January 1, 2020
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