期刊
MECHANISMS OF AGEING AND DEVELOPMENT
卷 127, 期 2, 页码 208-212出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.mad.2005.09.012
关键词
juvenile Huntington disease; infantile Huntington disease; age at onset; genetics of Huntington disease; clinics of juvenile Huntington disease
Huntington's disease (HD) is caused by a CAG repeat mutation translating as a polyglutamine (poly(Q)) expansion in the huntingtin protein, whose main pathogenic mechanism is a gain of toxic function. In the case of large expansions beyond 60 repeats onset may result in juvenile HD (JHD, onset before 20 years of age). However, the triplet number does not represent the only onset modifier even in case of large expansions, mechanisms other than the size of the mutation contribute to the phenotype. In this review we discuss the possibility that some of the pathogenic mechanisms contributing to age at onset and progression may differ in the early onset HD compared with the classical adult pathology. (c) 2005 Elsevier Ireland Ltd. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据