遗传性共济失调的临床特点与基因诊断策略  

The clinical features and genetic diagnosis of hereditary ataxia

作　　者：虞容豪[1] 谢秋幼[1] 李洵桦[2] 梁秀龄[2] 何艳斌[1] 

机构地区：[1]广州军区广州总医院高压氧医学中心,广州510010 [2]中山大学附属第一医院神经科,广州510080

出　　处：《广东医学》2010年第2期180-181,共2页Guangdong Medical Journal

基　　金：卫生部临床学科重点建设项目(编号:2001321)

摘　　要：目的研究分析遗传性共济失调的临床特点及基因诊断。方法对临床诊断为遗传性共济失调(hereditary ataxia,HA)的41个家系49例患者、42例散发患者的临床特点进行分析,同时对其和66名家系"健康"个体,以及44名正常对照进行基因检测,以区分不同亚型。结果在HA患者中以常染色体显性遗传的小脑性共济失调最常见,突出特点是共济失调步态、锥体束征阳性。基因检测显示脊髓小脑性共济失调3型(spinocer-ebellar ataxia 3,SCA3)比例最高,其余分别为SCA2、SCA、SCA7、SCA6、SCA12。结论遗传性共济失调临床特点明显,但各亚型之间交叉重叠,基因检测可为临床提供准确的分型。Objective To study the clinical features and molecular genetic diagnosis of hereditary ataxia （HA）. Methods This study included 49 patients with HA from 41 families, 42 sporadic HA patients, 66 healthy individuals from the HA families and 44 normal controls for clinical features comparison and genetic matching. Results The ataxie gait and positve pyramidal tract signs were the prominent feature of HA. Spinocerebellar ataxia type 3 （ SCA3 ） was the most common type in South China, followed by SCA2, SCA1 , SCA7, SCA6 and SCA12. No patient was found to have other genetic type. Conclusion Clinical characteristcs of HA is obvious,but there is still overlapping between subtypes. Molecular genetic detection can be used for SCA subtype diagnosis.

关 键 词：遗传性共济失调 脊髓小脑性共济失调 基因诊断 

分 类 号：R744.7[医药卫生—神经病学与精神病学] R394[医药卫生—临床医学]