An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

被引：465

作者：

Koob, MD

Moseley, ML

Schut, LJ

Benzow, KA

Bird, TD

Day, JW

Ranum, LPW

机构：

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

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

[3] Dept Vet Affairs Med Ctr, Seattle, WA 98108 USA

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

来源：

NATURE GENETICS | 1999年 / 21卷 / 04期

关键词：

D O I：

10.1038/7710

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Myotonic dystrophy (DM) is the only disease reported to be caused by a CTG expansion. We now report that a non-coding CTC expansion causes a novel form of spinocerebellar ataxia (SCA8). This expansion, located on chromosome 13q21, was isolated directly from the genomic DNA of an ataxia patient by RAPID cloning. SCA8 patients have expansions similar in size (107-127 CTG repeats) to those found among adult-onset DM patients. SCA8 is the first example of a dominant SCA not caused by a CAG expansion translated as a polyglutamine tract.

引用

页码：379 / 384

页数：6

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