摘要
目的研究重庆地区遗传性脊髓小脑共济失调（spinocerebellar ataxia,SCA）的遗传学分型及临床表现。方法应用聚合酶链式反应（polymerase chain reaction,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（dentatorubralpallidoluysian atrophy,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。
Objective To undertake a clinical and genetic spectrum analysis in patients with hereditary spinoeerebellar ataxia （SCA） in Chongqing district. Methods SCA 1, 2, 3, 6, 7, 12, 17 and dentatorubral-palliodoluysian atrophy （DRPLA） nucleotide repeat mutations were detected in 10 autosomal dominant SCA families and 9 sporadic SCA patients by PCR, agarose gel electrophoresis and DNA sequencing. The clinical data was also analyzed. Results There were 8 SCA3 families, the other 2 families and the sporadic cases were genetically unidentified. In the 8 SCA3 families, 15 patients were confirmed, with CAG repeat 58 to 71 times. Seven family members diagnosed to be presymptomatic patients, with CAG repeat 56 to 71 times. There was typical genetic anticipation, with cerebellar ataxia, dysarthria and tentorium brain atrophy. Conclusion SCA3 is substantially the most common subtype in SCA patients in Chongqing district, manifested by eerebellar ataxia, dysarthria and tentorium brain atrophy. The clinical symptoms are more serious in sporadic SCA patients than SCA patients with familly history. The degree of brain stem atrophy is associated with the course of disease, and the longer the duration, the more serious the brain stem atrophy.
出处
《第三军医大学学报》
CAS
CSCD
北大核心
2015年第7期693-697,共5页
Journal of Third Military Medical University
基金
重庆市自然科学基金(2011BB5023
CSTC2014jcyj A10074)~~
