Genetics and neuropathology of Huntington's disease.
Genetics and neuropathology of Huntington's disease.
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DOI：
10.1016/b978-0-12-381328-2.00014-6
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发表时间：
2011
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亨廷顿病(HD)是一种常染色体显性遗传性进行性神经退行性疾病，显著影响基底节，导致情感、认知、行为和运动能力下降。HD的基础是在一个基因中CAG重复扩增到-gt；35CAG，该基因编码一种被称为Huntingtin的普遍存在的蛋白质，导致扩展的N-末端多谷氨酰胺链。扩张的大小与疾病的严重程度相关，CAG的增加加速了发病年龄。关于该突变导致基底节优先损伤的机制，人们提出了多种可能性。本章提供了HD的遗传学和病理学的基本概述。
Huntington’s disease (HD) is an autosomal dominant progressive neurodegenerative disorder that prominently affects the basal ganglia, leading to affective, cognitive, behavioral and motor decline. The basis of HD is a CAG repeat expansion to >35 CAG in a gene that codes for a ubiquitous protein known as huntingtin, resulting in an expanded N-terminal polyglutamine tract. The size of the expansion is correlated with disease severity, with increasing CAG accelerating the age of onset. A variety of possibilities have been proposed as to the mechanism by which the mutation causes preferential injury to the basal ganglia. The present chapter provides a basic overview of the genetics and pathology of HD.