Clinical Neurogenetics Huntington Disease

被引：14

作者：

Bordelon, Yvette M. ^{[1
]}

机构：

[1] Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Los Angeles, CA 90210 USA

来源：

NEUROLOGIC CLINICS | 2013年 / 31卷 / 04期

关键词：

Huntingtin; CAG repeat disorder; Striatum; Presymptomatic genetic testing; Preimplantation genetic diagnosis; Tetrabenazine; NEURAL TRANSPLANTS; COMPLEXITY; CHALLENGES; DEPRESSION; DIAGNOSIS; TRIAL; AGE;

D O I：

10.1016/j.ncl.2013.05.004

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Huntington disease (HD) is an autosomal dominant, adult-onset, progressive neurodegenerative disease characterized by the triad of abnormal movements (typically chorea), cognitive impairment, and psychiatric problems. It is caused by an expanded CAG repeat in the gene encoding the protein huntingtin on chromosome 4 and causes progressive atrophy of the striatum as well as cortical and other extrastriatal structures. Genetic testing has been available since 1993 to confirm diagnosis in affected adults and for presymptomatic testing in at-risk individuals. This review covers HD signs, symptoms, and pathophysiology; current genetic testing issues; and current and future treatment strategies.

引用

页码：1085 / +

页数：11

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