Polyglutamine spinocerebellar ataxias - from genes to potential treatments

被引：244
作者：
Paulson, Henry L. [1 ]
Shakkottai, Vikram G. [1 ]
Clark, H. Brent [2 ]
Orr, Harry T. [2 ,3 ]
机构：
[1] Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
[2] Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55455 USA
[3] Univ Minnesota, Inst Translat Neurosci, Minneapolis, MN 55455 USA
来源：
NATURE REVIEWS NEUROSCIENCE | 2017年 / 18卷 / 10期
基金：
美国国家卫生研究院;
关键词：
DOMINANT CEREBELLAR-ATAXIA; MOUSE MODEL; NUCLEAR-LOCALIZATION; TRANSGENIC MICE; CAG REPEAT; OLIVOPONTOCEREBELLAR ATROPHY; MEDIATES NEURODEGENERATION; DEGENERATIVE ATAXIA; DISEASE PROGRESSION; EXPANDED ATAXIN-7;
D O I：
10.1038/nrn.2017.92
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and SCA7) are caused by expansion of a glutamine-encoding CAG repeat in the affected gene. These SCAs represent a substantial portion of the polyglutamine neurodegenerative disorders and provide insight into this class of diseases as a whole. Recent years have seen considerable progress in deciphering the clinical, pathological, physiological and molecular aspects of the polyglutamine SCAs, with these advances establishing a solid base from which to pursue potential therapeutic approaches.
引用
收藏
页码：613 / 626
页数：14
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