摘要
目的分析脊髓小脑共济失调(SCA)患者基因型分布以及临床特点。方法回顾性分析2009年1月至2013年8月在四川大学华西医院神经内科就诊的165例原因不明共济失调患者的SCA1,2,3,6,7型的胞嘧啶-腺嘌呤-鸟嘌呤(CAG)重复序列基因检测结果,分析基因确诊的SCA患者临床特点以及各亚型临床特点。结果165例患者中,SCA1,2,3,6,7型的CAG重复序列检测阳性率为43%,散发型患者基因检测阳性率高达13.9%。SCA3型(SCA3)是SCA最常见的亚型(60.6%),随后依次是SCA1,SCA2,SCA6及SCA7。SCA患者出现认知功能下降(12.5%)、异常眼部体征(58.3%)、周围神经损害(38.5%)、小脑共济失调(100%)、锥体束(54.2%)、自主神经功能障碍(25%)和锥体外系症状(6.3%)等广泛神经系统损害表现。特异性临床表现可能对从临床SCA亚型诊断有一定帮助,如视神经萎缩是SCA1特异性表现,腱反射减弱是SCA2特异性表现,水平眼震是SCA3特异性表现。结论 SCA3是SCA最常见亚型,散发型SCA并不少见。各亚型临床表现相互重叠,不同亚型的特异性临床表现在不同地域、不同种族人群研究中其特异性下降。行SCA基因检测确诊亚型十分重要。
Objective To analyze the frequencies and the clinical features of spinocerebellar ataxia （SCA） in Southwest China. Methods We performed a retrospective study of CAG repeat genetic analysis in 165 unrelated ataxia patients with unknown causes. We analyzed the frequencies and clinical manifestations of patients with genetically confirmed SCA and SCA phenotypes. Results 43 % patients confirmed to be SCA by genetic analysis among the undetermined ataxia patients in Southwest China, sporadic SCA accounted for over 13.9%, SCA3 was the most frequent phenotype （60. 6% ）, followed by SCA1, SCA2, SCA6, SCA7. SCA patients appeared with various clinical manifestations including mental disorders （ 12. 5% ）, oculomotor disorders （ 58. 3% ）, peripheral neuropathy （ 38. 5% ）, cerebellar ataxia （ 100% ）, pyramidal signs （ 54. 2% ）, autonomic dysfunction （ 25% ） and extra-pyramidal symptoms （ 6. 3% ）. The features of different phenotypes always overlapped with each other, but there were characteristic clinical features such as optic atrophy for SCA1, hyporeflexia for SCA2,nystagmus for SCA3. Conclusion SCA3 is the most common phenotype of SCA, sporadic SCA are not unusual. The clinical features of among different SCA phenotypes always present with various clinical manifestations and overlap with each other, and the characteristic clinical features are not as specific as supposed in the past across different ethnic and geographical. Genetic studies for SCA are essential in diagnose.
出处
《中国实用内科杂志》
CAS
CSCD
北大核心
2014年第5期512-515,共4页
Chinese Journal of Practical Internal Medicine
