天津医药

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散发型亨廷顿病的临床表型及基因分析

王育新   

  1. 天津市环湖医院神经内科17病区
  • 收稿日期:2010-03-11 修回日期:2010-05-13 出版日期:2010-11-15 发布日期:2010-11-15
  • 通讯作者: 王育新

Genetic diagnosis and clinical phenotype analysis of sporadic Huntington disease

  • Received:2010-03-11 Revised:2010-05-13 Published:2010-11-15 Online:2010-11-15

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摘要： 目的：对临床诊断的散发型HD患者进行基因诊断，同时分析其临床表型。方法：采用非变性聚丙烯酰胺凝胶电泳及银染法检测11例患者IT15基因的CAG重复次数。采用亨廷顿病统一评定量表（UHDRS）和简易智能精神状态检查量表（MMSE）对患者的运动、智能、精神和独立性评分。结果：11例散发型HD患者中5例具有扩展的CAG重复。5例确诊患者的发病年龄偏大,平均47岁，CAG重复次数在40－48之间，轻度舞蹈，无明显智能障碍。结论：临床诊断的散发型HD患者可以通过基因检测确诊。散发型患者的临床表型不同于有家族史的患者。

关键词: 散发型亨廷顿病, 基因诊断, 临床表型

Abstract: Objective: To detect gene and analyze clinical manifestations of sporadic Huntington disease (HD). Methods: Non-denaturing polyacrylamide gel electrophoresis method was used to detect CAG repeat. Clinical manifestations were scored by UHDRS and MMSE. Results: 5 out of 11 sporadic HD patients had CAG expansions. 5 genetic diagnosis patients with late onset, average 47 years, had 40-48 CAG repeat, often with milder chorea and no marked intellectual decline. Conclusions: The diagnosis of sporadic HD patients was confirmed by genetic detect. The clinical manifestations of sporadic HD patients were different from those of patients with family history.

Key words: sporadic Huntington disease, Genetic diagnosis, clinical phenotype