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重庆地区脊髓小脑共济失调的临床特征分析与分子遗传学研究

, PP. 693-697

Keywords: 脊髓小脑性共济失调,家系,动态突变,基因

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Abstract:

目的研究重庆地区遗传性脊髓小脑共济失调(spinocerebellarataxia,SCA)的遗传学分型及临床表现。方法应用聚合酶链式反应(polymerasechainreaction,PCR)和琼脂糖凝胶电泳以及DNA测序技术,分析了10个常染色体显性脊髓小脑共济失调家系及9例散发小脑性共济失调患者的SCA1、SCA2、SCA3、SCA6、SCA7、SCA12、SCA17、齿状核红核苍白球路易体萎缩(dentatorubral-pallidoluysianatrophy,DRPLA)的致病基因,并结合临床资料进行分析。结果其中8个家系分子遗传学检测明确为SCA3型,另外2个家系及散发患者均未明确其遗传学亚型。8个SCA3家系中,通过基因诊断确诊患者15例,CAG重复58~71次,症状前患者7例,CAG重复56~71次。SCA3临床表现以小脑共济失调及构音障碍为主,有典型的遗传早现现象,影像学表现为幕下脑萎缩。结论SCA3是重庆地区最常见的脊髓小脑共济失调类型,主要表现为小脑共济失调、构音障碍及幕下脑萎缩。家族性SCA患者脑萎缩程度较散发患者轻,患者脑干萎缩程度与病程相关,病程越长,脑干萎缩越严重。

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