SCA12 is a rare locus for autosomal dominant cerebellar ataxia:: A study of an Indian family

被引:0
作者
Fujigasaki, H
Verma, IC
Camuzat, A
Margolis, RL
Zander, C
Lebre, AS
Jamot, L
Saxena, R
Anand, I
Holmes, SE
Ross, CA
Dürr, A
Brice, A
机构
[1] INSERM, U289, Paris, France
[2] Sir Ganga Ram Hosp, Dept Med Genet, New Delhi, India
[3] Sir Ganga Ram Hosp, Dept Neurol, New Delhi, India
[4] Johns Hopkins Univ, Sch Med, Dept Psychiat, Div Neurobiol, Baltimore, MD 21205 USA
[5] Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA
[6] Johns Hopkins Univ, Sch Med, Program Cellular & Mol Med, Baltimore, MD 21205 USA
[7] Hop La Pitie Salpetriere, Federat Neurol, F-75651 Paris, France
[8] Hop La Pitie Salpetriere, Consultat Genet Med, F-75651 Paris, France
关键词
D O I
10.1002/1531-8249(200101)49:1<117::AID-ANA19>3.3.CO;2-7
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Spinocerebellar ataxia 12 (SCA12) is an autosomal dominant cerebellar ataxia (ADCA) described in a single family with a CAG repeat expansion in the PPP2R2B gene. We screened 247 index cases, including 145 families with ADCA, for this expansion. An expanded repeat ranging from 55 to 61 triplets was detected in 6 affected and 3 unaffected individuals at risk in a single family from India. The association of the PPP2R2B CAG repeat expansion with disease in this new family provides additional evidence that the mutation is causative.
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页码:117 / 121
页数:5
相关论文
共 16 条
[1]   Rethinking genotype and phenotype correlations in polyglutamine expansion disorders [J].
Andrew, SE ;
Goldberg, YP ;
Hayden, MR .
HUMAN MOLECULAR GENETICS, 1997, 6 (12) :2005-2010
[2]   Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India [J].
Basu, P ;
Chattopadhyay, B ;
Gangopadhaya, PK ;
Mukherjee, SC ;
Sinha, KK ;
Das, SK ;
Roychoudhury, S ;
Majumder, PP ;
Bhattacharyya, NP .
HUMAN GENETICS, 2000, 106 (06) :597-604
[3]   Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion [J].
David, G ;
Abbas, N ;
Stevanin, G ;
Durr, A ;
Yvert, G ;
Cancel, G ;
Weber, C ;
Imbert, G ;
Saudou, F ;
Antoniou, E ;
Drabkin, H ;
Gemmill, R ;
Giunti, P ;
Benomar, A ;
Wood, N ;
Ruberg, M ;
Agid, Y ;
Mandel, JL ;
Brice, A .
NATURE GENETICS, 1997, 17 (01) :65-70
[4]   Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation [J].
Herman-Bert, A ;
Stevanin, G ;
Netter, JC ;
Rascol, O ;
Brassat, D ;
Calvas, P ;
Camuzat, A ;
Yuan, QP ;
Schalling, M ;
Dürr, A ;
Brice, A .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (01) :229-235
[5]   Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12 [J].
Holmes, SE ;
O'Hearn, EE ;
McInnis, MG ;
Gorelick-Feldman, DA ;
Kleiderlein, JJ ;
Callahan, C ;
Kwak, NG ;
Ingersoll-Ashworth, RG ;
Sherr, M ;
Sumner, AJ ;
Sharp, AH ;
Ananth, U ;
Seltzer, WK ;
Boss, MA ;
Vieria-Saecker, AM ;
Epplen, JT ;
Riess, O ;
Ross, CA ;
Margolis, RL .
NATURE GENETICS, 1999, 23 (04) :391-392
[6]   Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats [J].
Imbert, G ;
Saudou, F ;
Yvert, G ;
Devys, D ;
Trottier, Y ;
Garnier, JM ;
Weber, C ;
Mandel, JL ;
Cancel, G ;
Abbas, N ;
Durr, A ;
Didierjean, O ;
Stevanin, G ;
Agid, Y ;
Brice, A .
NATURE GENETICS, 1996, 14 (03) :285-291
[7]   Understanding the molecular basis of fragile X syndrome [J].
Jin, P ;
Warren, ST .
HUMAN MOLECULAR GENETICS, 2000, 9 (06) :901-908
[8]   CAG EXPANSIONS IN A NOVEL GENE FOR MACHADO-JOSEPH DISEASE AT CHROMOSOME 14Q32.1 [J].
KAWAGUCHI, Y ;
OKAMOTO, T ;
TANIWAKI, M ;
AIZAWA, M ;
INOUE, M ;
KATAYAMA, S ;
KAWAKAMI, H ;
NAKAMURA, S ;
NISHIMURA, M ;
AKIGUCHI, I ;
KIMURA, J ;
NARUMIYA, S ;
KAKIZUKA, A .
NATURE GENETICS, 1994, 8 (03) :221-228
[9]   Trinucleotide repeat expansion and neuropsychiatric disease [J].
Margolis, RL ;
McInnis, MG ;
Rosenblatt, A ;
Ross, CA .
ARCHIVES OF GENERAL PSYCHIATRY, 1999, 56 (11) :1019-1031
[10]   EXPANSION OF AN UNSTABLE TRINUCLEOTIDE CAG REPEAT IN SPINOCEREBELLAR ATAXIA TYPE-1 [J].
ORR, HT ;
CHUNG, MY ;
BANFI, S ;
KWIATKOWSKI, TJ ;
SERVADIO, A ;
BEAUDET, AL ;
MCCALL, AE ;
DUVICK, LA ;
RANUM, LPW ;
ZOGHBI, HY .
NATURE GENETICS, 1993, 4 (03) :221-226