齿状核红核苍白球路易氏体萎缩症家系的临床和基因突变分析  

Genetics and clinical study of Chinese kindreds with dentatorubral pallidoluysian atrophy

作　　者：张鑫[1] 郝莹[1] 顾卫红[1] 陈园园[1] 张瑾[1] 王国相[1] 王康[1] 金淼[1] 段晓慧[1] 

机构地区：[1]卫生部中日友好医院运动障碍与神经遗传病研究中心,北京100029

出　　处：《中华医学遗传学杂志》2013年第1期31-35,共5页Chinese Journal of Medical Genetics

基　　金：卫生部临床学科重点项目（2010-2012年度）

摘　　要：目的探讨齿状核红核苍白球路易氏体萎缩症（dentatorubral-pallidoluysianatrophy，DRPI。A）患者的临床特征和基因突变特点。方法应用基于荧光标记的毛细管电泳片段分析法对708个常染色体显性遗传脊髓小脑共济失调（spinocerebellarataxias，SCA）家系的先证者和119例临床拟诊为SCA的散发患者进行DRPLA基因CAG重复次数分析。结果共检出3例患者存在DRPLA基因CAG重复扩展突变。片段分析显示其CAG重复次数分别为16／58、16／68和14／54次，长片段重复次数达到异常范围。3个家系的先证者均为成年起病，以共济失调为主要症状，患者可伴发抽搐、颈部扭转等表现。结论在827例共济失调病例中仅发现3例DRPLA，说明该病在中国人群中较为罕见。DRPLA的临床表现复杂多样，存在变异。对DRPI。A患者的临床特征和突变特点的细致分析有助于同其他SCA类型进行鉴别诊断。Objective To investigate genetics and clinical characteristics of dentatorubral- pallidoluysian atrophy （DRPI.A） in Chinese kindreds. Methods Fragment analysis with laser-induced fluorescence in capillary electrophoresis was performed for the cytosine-adenine-guanine （CAG） repeats of DRPLA gene in 708 probands of autosomal dominant ataxia pedigrees and 119 sporadic ataxia cases. Results Expanded CAG repeats of DRPLA gene were detected in probands of three ataxia pedigrees, with the numbers of repeats being 16/58, 16/58 and 14/54, respectively. In addition to ataxia, patients with adult- onset disease also exhibited spasm and neck torsion. Conclusion Only three cases of DRPLA have been identified among 827 cases, which suggested that DRPLA is a relatively rare subtype of SCA in Chinese population. Clinical variation among the patients suggested DRPLA has a wide spectrum of phenotype.

关 键 词：齿状核红核苍白球路易氏体萎缩 CAG重复突变 片段分析 临床变异 

分 类 号：R744.7[医药卫生—神经病学与精神病学]