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目的:探讨脊髓小脑共济失调(Spinocerebellar Ataxia,SCA)的临床特点和分子遗传学特征。方法:对华西医院2004年7月至2008年4月收治的脊髓小脑共济失调病人进行总结分析。结果:在21例作过SCA1、SCA2、SCA3、SCA6和SCA7CAG/CAA三核苷酸重复扩增次数检测的患者中,SCA3患者8例(38.1%),SCA6患者4例,(19.0%),SCA2患者1例(4.8%),余下的8例(38.1%)患者SCA1、SCA2、SCA3、SCA6、SCA7基因检测未见异常。结论:SCA3是中国西南地区最多见的SCA亚型,SCA各亚型的临床表现相互重叠,其确诊有赖于基因检查。
Objective: To investigate the clinical features and molecular genetic features of Spinocerebellar Ataxia (SCA). Methods: The patients with Spinocerebellar ataxia who were treated in West China Hospital from July 2004 to April 2008 were analyzed. Results: Among 21 SCA1, SCA2, SCA3, SCA6 and SCA7CAG / CAA trinucleotide repeats, 8 (38.1%) SCA3 patients, 4 SCA6 patients (19.0%), One patient (4.8%) had SCA2 and the remaining 8 patients (38.1%) had no abnormality of SCA1, SCA2, SCA3, SCA6 and SCA7. Conclusion: SCA3 is the most common subtype of SCA in southwest China. The clinical manifestations of SCA subtypes overlap each other, and the diagnosis depends on genetic tests.