Autopsy-proven Huntington's disease with 29 trinucleotide repeats

被引：68

作者：

Kenney, Christopher

Powell, Suzanne

Jankovic, Joseph

机构：

[1] Baylor Coll Med, Dept Neurol, Parkinsons Dis Ctr, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Neurol, Movement Disorders Clin, Houston, TX 77030 USA

来源：

MOVEMENT DISORDERS | 2007年 / 22卷 / 01期

关键词：

Huntington's disease; phenocopy; autopsy; trinucleotide repeat; neuropathology; chorea;

D O I：

10.1002/mds.21195

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Huntington's disease (RD) is a neurodegenerative disorder associated with expansion of CAG trinucleotide repeats in the huntingtin gene. A minimum of 36 CAG repeats is usually reported in patients with clinical features of RD; 30 to 35 repeats represent an intermediate range. Here we report a 65-year-old male with autopsy-proven HD and 29 CAG repeats. (C) 2006 Movement Disorder Society.

引用

页码：127 / 130

页数：4

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