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老年舞蹈症患者亨廷顿病基因中正常的CAG重复序列长度

Normal CAG repeat length in the Huntington's disease gene in senile chorea.

作者信息

Shinotoh H, Calne D B, Snow B, Hayward M, Kremer B, Theilmann J, Hayden M R

机构信息

Neurodegenerative Disorders Centre, University of British Columbia, Vancouver, Canada.

出版信息

Neurology. 1994 Nov;44(11):2183-4. doi: 10.1212/wnl.44.11.2183.

Abstract

There is a widely held belief that most patients presenting with senile chorea have late-onset Huntington's disease (HD) with an unknown family history. We measured CAG trinucleotide repeat expansion in the HD gene in four patients with a clinical presentation of senile chorea and found that CAG repetition lengths were normal. These findings support senile chorea as being a distinct clinical entity that is nosologically separate from late-onset HD.

摘要

有一种广泛持有的观点认为,大多数出现老年舞蹈症的患者患有迟发性亨廷顿舞蹈病(HD),且家族病史不明。我们检测了四名临床表现为老年舞蹈症患者的HD基因中CAG三核苷酸重复序列的扩增情况,发现CAG重复长度正常。这些发现支持老年舞蹈症是一种与迟发性HD在病因学上不同的独特临床实体。

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