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

来源：

ANNALS OF NEUROLOGY | 2001年 / 49卷 / 01期

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.

引用

页码：117 / 121

页数：5

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