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Volume 6, Number 3, June 2020 Neurology.org/NG A peer-reviewed clinical and translational neurology open access journal ARTICLE Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort e415 ARTICLE Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort e440 ARTICLE Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy e428 ARTICLE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases e434 Academy Officers Neurology® is a registered trademark of the American Academy of Neurology (registration valid in the United States). James C. Stevens, MD, FAAN, President Neurology® Genetics (eISSN 2376-7839) is an open access journal published Orly Avitzur, MD, MBA, FAAN, President Elect online for the American Academy of Neurology, 201 Chicago Avenue, Ann H. 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Chief Executive Officer General information about permissions can be found here: https://shop.lww.com/ journal-permission. 20l Chicago Ave Disclaimer: Opinions expressed by the authors and advertisers are not Minneapolis, MN 55415 necessarily those of the American Academy of Neurology, its affiliates, or of the Publisher. The American Academy of Neurology, its affiliates, and the Tel: 612-928-6000 Publisher disclaim any liability to any party for the accuracy, completeness, efficacy, or availability of the material contained in this publication (including drug dosages) or for any damages arising out of the use Editorial Office or non-use of any of the material contained in this publication. Patricia K. Baskin, MS, Executive Editor Advertising Sales Representatives: Wolters Kluwer, 333 Seventh Avenue, Rachel A. Anderson, Administrative Assistant New York, NY 10001. 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International: Andrew Wible, Senior Manager, Rights, Licensing, and Partnerships, Wolters Kluwer; Lee Ann Kleffman, Managing Editor, Neurology® Clinical Practice [email protected]. Andrea Rahkola, Production Editor Kristen Swendsrud, Production Coordinator Sharon L. Quimby, Digital Managing Editor Kaitlyn Aman Ramm, Digital Multimedia/Graphics Coordinator Justin Daugherty, Digital Multimedia/Podcast Coordinator Madeleine Sendek, MPH, Digital Marketing Communications Coordinator Publisher Wolters Kluwer Baltimore, MD Publishing Staff Sarah Carrera, MBA, Executive Publisher Jessica Heise, Production Team Leader, Neurology Journals Megen Miller, Production Editor Steve Rose, Editorial Assistant Stacy Drossner, Production Associate Copyright ª 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited. A peer-reviewed clinical and translational neurology open access journal Neurology.org/NG Neurology® Genetics Editor Stefan M. 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Ratliff, MD, Deputy Podcast Editor Ombudsman Jonathan W. Mink, MD, PhD, FAAN Scientific Integrity Advisor David S. Knopman, MD, FAAN Copyright ª 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited. TABLE OF CONTENTS Volume 6, Number 3, June, 2020 Neurology.org/NG The Helix e424 TGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35 e438 The Helix: Editorial Changes Y. Chen, D. Wu, B. Luo, G. Zhao, and K. Wang S.M. Pulst Open Access Open Access e425 Expanding the phenotypic and molecular spectrum of Editorial RNA polymerase III–related leukodystrophy e436 Intronic pentanucleotide expansion in the replication S. Perrier, L. Gauquelin, C. Fallet-Bianco, M.K. Dishop, RFC1 M.A. Michell-Robinson, L.T. Tran, K. Guerrero, L. Darbelli, M. Srour, factor 1 gene ( ) is a major cause of adult-onset K. Petrecca, D.L. Renaud, M. Saito, S. Cohen, S. Leiz, B. Alhaddad, ataxia T.B. Haack, I. Tejera-Martin, F.I. Monton, N. Rodriguez-Espinosa, D. Pohl, S. Nageswaran, A. Grefe, E. Glamuzina, and G. Bernard S.M. Boesch and M.A. Nance Open Access Open Access e426 Phenotypic variability in chorea-acanthocytosis Articles associated with novel VPS13A mutations e414 Neuraxial dysraphism in EPAS1-associated syndrome V. Niemel¨a, A. Salih, D. Solea, B. Lindvall, J. Weinberg, G. Miltenberger, T. Granberg, A. Tzovla, L. Nordin, T. Danfors, due to improper mesenchymal transition I. Savitcheva, N. Dahl, and M. Paucar J.S. Rosenblum, A.J. Cappadona, D.P. Argersinger, Y. Pang, H. Wang, Open Access M.A. Nazari, J.P. Munasinghe, D.R. Donahue, A. Jha, J.G. Smirniotopoulos, M.M. Miettinen, R.H. Knutsen, B.A. Kozel, Z. Zhuang, K. Pacak, and J.D. Heiss e428 Mutations in the m-AAA proteases AFG3L2 Open Access and SPG7 are causing isolated dominant optic atrophy e415 Neurologic outcomes in Friedreich ataxia: Study of M. Charif, A. Chevrollier, N. Gueguen, C. Bris, D. Gouden`ege, a single-site cohort V. Desquiret-Dumas, S. Leruez, E.Colin,A.Meunier,C.Vignal, V. Smirnov, S. Defoort-Dhellemmes, I. Drumare Bouvet, M. Pandolfo C. Goizet, M. Votruba, N. Jurkute, P. Yu-Wai-Man, F. Tagliavini, Open Access L. Caporali, C. La Morgia, V. Carelli, V. Procaccio, X. Zanlonghi, I. Meunier, P. Reynier, D. Bonneau, P. Amati-Bonneau, and e416 Polygenic risk scores of several subtypes of epilepsies G. Lenaers in a founder population Open Access C. Moreau, R.-M. R´ebillard, S. Wolking, J. Michaud, F. Tremblay, e430 A. Girard, J. Bouchard, B. Minassian, C. Laprise, P. Cossette, and Genotyping single nucleotide polymorphisms for S.L. Girard allele-selective therapy in Huntington disease Open Access D.O. Claassen, J. Corey-Bloom, E.R. Dorsey, M. Edmondson, S.K. Kostyk, M.S. LeDoux, R. Reilmann, H.D. Rosas, F. Walker, e417 Clinical and pathologic phenotype of a large family V. Wheelock, N. Svrzikapa, K.A. Longo, J. Goyal, S. Hung, and M.A. Panzara with heterozygous STUB1 mutation Open Access M.O. Mol, J.G.J. van
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    List of European Pharmacopoeia Reference Standards Effective from 2015/12/24 Order Reference Standard Batch n° Quantity Sale Information Monograph Leaflet Storage Price Code per vial Unit Y0001756 Exemestane for system suitability 1 10 mg 1 2766 Yes +5°C ± 3°C 79 ! Y0001561 Abacavir sulfate 1 20 mg 1 2589 Yes +5°C ± 3°C 79 ! Y0001552 Abacavir for peak identification 1 10 mg 1 2589 Yes +5°C ± 3°C 79 ! Y0001551 Abacavir for system suitability 1 10 mg 1 2589 Yes +5°C ± 3°C 79 ! Y0000055 Acamprosate calcium - reference spectrum 1 n/a 1 1585 79 ! Y0000116 Acamprosate impurity A 1 50 mg 1 3-aminopropane-1-sulphonic acid 1585 Yes +5°C ± 3°C 79 ! Y0000500 Acarbose 3 100 mg 1 See leaflet ; Batch 2 is valid until 31 August 2015 2089 Yes +5°C ± 3°C 79 ! Y0000354 Acarbose for identification 1 10 mg 1 2089 Yes +5°C ± 3°C 79 ! Y0000427 Acarbose for peak identification 3 20 mg 1 Batch 2 is valid until 31 January 2015 2089 Yes +5°C ± 3°C 79 ! A0040000 Acebutolol hydrochloride 1 50 mg 1 0871 Yes +5°C ± 3°C 79 ! Y0000359 Acebutolol impurity B 2 10 mg 1 -[3-acetyl-4-[(2RS)-2-hydroxy-3-[(1-methylethyl)amino] propoxy]phenyl] 0871 Yes +5°C ± 3°C 79 ! acetamide (diacetolol) Y0000127 Acebutolol impurity C 1 20 mg 1 N-(3-acetyl-4-hydroxyphenyl)butanamide 0871 Yes +5°C ± 3°C 79 ! Y0000128 Acebutolol impurity I 2 0.004 mg 1 N-[3-acetyl-4-[(2RS)-3-(ethylamino)-2-hydroxypropoxy]phenyl] 0871 Yes +5°C ± 3°C 79 ! butanamide Y0000056 Aceclofenac - reference spectrum 1 n/a 1 1281 79 ! Y0000085 Aceclofenac impurity F 2 15 mg 1 benzyl[[[2-[(2,6-dichlorophenyl)amino]phenyl]acetyl]oxy]acetate
  • CONGENITAL ABNORMALITIES of the CENTRAL NERVOUS SYSTEM Christopher Verity, Helen Firth, Charles Ffrench-Constant *I3

    CONGENITAL ABNORMALITIES of the CENTRAL NERVOUS SYSTEM Christopher Verity, Helen Firth, Charles Ffrench-Constant *I3

    J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.74.suppl_1.i3 on 1 March 2003. Downloaded from CONGENITAL ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM Christopher Verity, Helen Firth, Charles ffrench-Constant *i3 J Neurol Neurosurg Psychiatry 2003;74(Suppl I):i3–i8 dvances in genetics and molecular biology have led to a better understanding of the control of central nervous system (CNS) development. It is possible to classify CNS abnormalities Aaccording to the developmental stages at which they occur, as is shown below. The careful assessment of patients with these abnormalities is important in order to provide an accurate prog- nosis and genetic counselling. c NORMAL DEVELOPMENT OF THE CNS Before we review the various abnormalities that can affect the CNS, a brief overview of the normal development of the CNS is appropriate. c Induction—After development of the three cell layers of the early embryo (ectoderm, mesoderm, and endoderm), the underlying mesoderm (the “inducer”) sends signals to a region of the ecto- derm (the “induced tissue”), instructing it to develop into neural tissue. c Neural tube formation—The neural ectoderm folds to form a tube, which runs for most of the length of the embryo. c Regionalisation and specification—Specification of different regions and individual cells within the neural tube occurs in both the rostral/caudal and dorsal/ventral axis. The three basic regions of copyright. the CNS (forebrain, midbrain, and hindbrain) develop at the rostral end of the tube, with the spinal cord more caudally. Within the developing spinal cord specification of the different popu- lations of neural precursors (neural crest, sensory neurones, interneurones, glial cells, and motor neurones) is observed in progressively more ventral locations.