Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians

Neurology

Volumn 77, Issue 20, 2011, Pages 1853-1855

  Ishikawa, K ^a   Durr A ^b,c,d,e   Klopstock, T ^f   Muller S ^f   De Toffol, B ^g   Vidailhet, M ^b,c,d,e   Vighetto, A ^h   Marelli, C ^b,c,d,e   Wichmann, H E ^i,j   Illig, T ⁱ   Niimi, Y ^a   Sato, N ^a   Amino, T ^a   Stevanin, G ^b,c,d,e,k   Brice, A ^b,c,d,e   Mizusawa, H ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b SORBONNE UNIVERSITÉ   (France)

^c INSERM   (France)

^d CNRS   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^g Department of Neurology ^*  (France)

^h HÔPITAL NEUROLOGIQUE   (France)

ⁱ INSTITUTE OF EPIDEMIOLOGY   (Germany)

^j UNIVERSITY OF MUNICH   (Germany)

^k PSL RESEARCH UNIVERSITY   (France)

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Author keywords

[No Author keywords available]

Indexed keywords

NUCLEIC ACID BINDING PROTEIN; SPINOCEREBELLAR ATAXIA TYPE 31 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CAUCASIAN; GENE LOCUS; GENE MUTATION; HUMAN; NUCLEOTIDE REPEAT; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION;

EID: 82955228926     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182377e3a     Document Type: Article

References (7)

1. Durr A. Autosomal dominant cerebellar ataxias: Polyglutamine expansions and beyond. Lancet Neurol 2010;9: 885-894.
2. Sato N, Amino T, Kobayashi K, et al. Spinocerebellar ataxia type 31 (SCA31) is associated with "inserted" pentanucleotide repeats containing (TGGAA)n. Am J Hum Genet 2009;85:544-557.
3. Todd PK, Paulson HL. RNA-mediated neurodegeneration in repeat expansion disorders. Ann Neurol 2010;67:291-300.
4. Wieczorek S, Arning L, Alheite I, Eppelen JT. Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. J Hum Genet 2006;51: 363-367.
5. Pearson CE, Nichol Edamura K, Cleary JD. Repeat instability: Mechanisms of dynamic mutations. Nat Rev Genet 2005;6:729-742. (Pubitemid 41400831)
6. Parisien M, Major F. The MC-Fold and MC-Sym pipeline infers RNA structure from sequence data. Nature 2008; 452:51-55. (Pubitemid 351355097)
7. Zu T, Gibbens B, Doty NS, et al. Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci USA 2011;108:260-265.