CAJ | 학술논문

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(spinocerebellar 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.
목적 연구분석유전성공제실조적림상특점급기인진단. 방법대림상진단위유전성공제실조(hereditary ataxia, HA)적41개가계49례환자、42례산발환자적림상특점진행분석,동시대기화66명가계"건강"개체,이급44명정상대조진행기인검측,이구분불동아형. 결과 재HA환자중이상염색체현성유전적소뇌성공제실조최상견,돌출특점시공제실조보태、추체속정양성.기인검측현시척수소뇌성공제실조3형(spinocerebellar ataxia 3, SCA3)비례최고,기여분별위SCA2、SCA、SCA7、SCA6、SCA12. 결론 유전성공제실조림상특점명현,단각아형지간교차중첩,기인검측가위림상제공준학적분형.
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 ataxic 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.