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.
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收藏
页码：175 / 183
页数：9
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