Huntington病的临床和遗传特征.pdfVIP

临床神经病学杂志2008年第2l卷第1期 · 15· · 论著 · Huntington病的临床和遗传特征 柯国秀，刘春风，林芳，毛成洁，杨亚萍，秦正红 【摘要】 目的 探讨Huntington病(HD)的临床和遗传特征。方法 对6个中国汉族HD家系28例患 者的临床资料和遗传特征进行回顾性分析。结果 本组男15例，女13例；起病年龄26～72岁；病程6—20 年；有基因携带者6例(男2例，女4例)；均以进行性加重的舞蹈样不自主运动为主，伴精神异常3例，痴呆1 例，共济失调3例，晚期出现吞咽及构音障碍10例。1例基因携带者头颅磁共振波谱(MRS)分析显示两侧豆 状核出现较明显的Lac倒置峰。6个家系均呈常染色体显性遗传，基因诊断发现受测患者和无临床表现的基 因携带者均有(CAG)n重复拷贝数超过正常值(I37)；本组中有4个家系子代较父代发病年龄提前。结论 HD临床表现多样化，是一种常染色体显性遗传的神经变性疾病，存在遗传早现现象。IT15基因中(CAG)n 重复拷贝数的异常扩展是这6个家系发生HD的发病基础。 【关键词】 Huntington病；临床特征；IT15基因；三核苷酸重复 【中图分类号】R742．2 【文献标识码】A 【文章编号】1004—1648(2008)01-0015-03 Clinical and genetic features of Huntington’S disease 碰 G∞一xiu，，JU Chun-feng，LIN ，et a1． Department ofNeurology，Second Affiliated Hospital ofSuzhou University，Suzhou 215004，China Abstract：Objective To study the clinical and genetic features of Huntington’S disease(HD)．Methods The data of clinical information and heredity in 28 patients with HD from 6 Chinese families were analyzed retrospectively、 Results There were 28 patients in 6 pedigrees，including 15 males and 13 females．The onset age of all patients was 26～72 years old and the course of disease was variable from 6 years to more than 20 years．and there were 6 gene carriers，including 2 males and 4 females．These patients mainly appeared progressively chorea movement，with mental abnormalities(3 cases)，dementia(1 case)，ataxia。(3 cases)，dysarthria and dysphay in late stag(10 cases ．Brain MRS of one gene carrier demonstrated significant Lac inversion hump in bilateral lenticular nucleus． Six pedigrees showed autosomal dominant inheritance、HD patients and gene carriers had an abnormal expansion of CAG(nI37)．Moreover，in 4 pedigrees，the onset age Was earlier in the subsequent generations、Conclusions HD iS an autosomal dominant neurodegenerative discrder with genetic anticipa