Document Detail

Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians.
MedLine Citation:
PMID:  22049201     Owner:  NLM     Status:  Publisher    
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).
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:
Type:  JOURNAL ARTICLE     Date:  2011-11-2
Journal Detail:
Title:  Neurology     Volume:  -     ISSN:  1526-632X     ISO Abbreviation:  -     Publication Date:  2011 Nov 
Date Detail:
Created Date:  2011-11-3     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
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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