| Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians. | |
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MedLine Citation:
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PMID: 22049201 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Spinocerebellar ataxia type 31 (SCA31) was recently discovered to be caused by 2.5- to 3.8-kb-long complex pentanucleotide repeats containing (TGGAA)(n), (TAGAA)(n), and (TAAAA)(n) in an intronic region shared by 2 different genes, BEAN (brain expressed, associated with Nedd4) and TK2 (thymidine kinase 2), in chromosome 16q22.1.(1,2) Among the 3 pentanucleotide repeats, (TGGAA)(n) was the only one in which large repeats segregated with the phenotype, suggesting its importance in pathogenesis.(2) SCA31 is considered one of a growing number of neuromuscular diseases with RNA-mediated gain-of-function mechanism such as myotonic dystrophies type 1 and 2, SCA8, SCA10, and fragile X-tremor ataxia syndrome.(3). |
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Authors:
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K Ishikawa; A Dürr; T Klopstock; S Müller; B De Toffol; M Vidailhet; A Vighetto; C Marelli; H-E Wichmann; T Illig; Y Niimi; N Sato; T Amino; G Stevanin; A Brice; H Mizusawa |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-11-2 |
Journal Detail:
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Title: Neurology Volume: - ISSN: 1526-632X ISO Abbreviation: - Publication Date: 2011 Nov |
Date Detail:
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Created Date: 2011-11-3 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0401060 Medline TA: Neurology Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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From the Department of Neurology and Neurological Sciences (K.I., Y.N., N.S., T.A., H.M.), Graduate School, Tokyo Medical and Dental University, Tokyo, Japan; Université Pierre et Marie Curie-Paris6 (A.D., M.V., C.M., G.S., A.B.), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Paris; Inserm, U975 (A.D., M.V., C.M., G.S., A.B.), Paris; CNRS (A.D., M.V., C.M., G.S., A.B.), UMR 7225, Paris; AP-HP (A.D., C.M., G.S., A.B.), Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, Paris, France; Department of Neurology (T.K., S.M.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Munich, Germany; Department of Neurology (B.D.), Tours; AP-HP (M.V.), Hôpital de la Salpêtrière, Fédération de Neurologie, Paris; Hôpital Neurologique (A.V.), Lyon, France; Institute of Epidemiology I (H.-E.W.), Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg; Institute of Medical Informatics, Biometry and Epidemiology (H.-E.W.), Ludwig-Maximilians-Universität, Munich; Unit for Molecular Epidemiology (T.I.), Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany; and Ecole Pratique des Hautes Etudes (G.S.), Paris, France. |
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