Molecular genetics of spinocerebellar ataxia type 8 (SCA8)

被引：21

作者：

Mosemiller, AK

Dalton, JC

Day, JW

Ranum, LPW

机构：

[1] Univ Minnesota, Dept Genet, Minneapolis, MN 55455 USA

[2] Univ Minnesota, Dept Cell Biol, Minneapolis, MN 55455 USA

[3] Univ Minnesota, Dept Dev, Minneapolis, MN 55455 USA

[4] Univ Minnesota, Dept Neurol, Minneapolis, MN 55455 USA

[5] Univ Minnesota, Inst Human Genet, Minneapolis, MN 55455 USA

来源：

CYTOGENETIC AND GENOME RESEARCH | 2003年 / 100卷 / 1-4期

关键词：

D O I：

10.1159/000072852

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

We previously reported that a transcribed but untranslated CTG expansion causes a novel form of ataxia, spinocerebellar ataxia type 8 (SCA8) (Koob et al., 1999). SCA8 was the first example of a dominant spinocerebellar ataxia that is not caused by the expansion of a CAG repeat translated into a polyglutamine tract. This slowly progressive form of ataxia is characterized by dramatic repeat instability and a high degree of reduced penetrance. The clinical and genetic features of the disease are discussed below. Copyright (C) 2002 S.Karger AG, Basel.

引用

页码：175 / 183

页数：9

共 71 条

[21]

Harper P.S. Monckton., 2001, MYOTONIC DYSTROPHY, V3e

[22] Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan [J].