摘要
目的探讨脊髓小脑性共济失调17型(SCA17)的临床特征。方法收集2例经基因检测明确为SCA17患者的临床及其家系调查资料,结合文献复习进行分析。结果 2例患者均诊断为SCA17。临床表现为小脑症状、认知功能损害、帕金森样症状、肌张力障碍、舞蹈症和癫。头颅MRI检查示大脑和小脑显著萎缩。结论 SCA17临床特征具有高度异质性,基因检测有助诊断,临床医生需对SCA17有足够的认识。
Aim To explore the clinical features of spinocerebellar ataxia 17（SCA17）. Methods A family with spinocerebellar ataxia type 17（SCA 17） was described, with some reports summarized from the clinical manifestations in the patients with SCA 17. Results The diagnosis of SCA17 in the two patients in the report were confirmed by molecular analysis of TATA box-binding protein（TBP） gene. The presenting symptoms of SCA17 patients were cerebellar ataxia, cognitive impairment, Parkinsonism, dystonia, chorea and epilepsy. Magnetic resonance imaging showed marked atrophy of the brain and cerebellum. ConclusionThe clinical features of SCA 17 are heterogeneous, and gene detection is helpful to diagnosis, which should be paid attention by physician.
出处
《中国临床神经科学》
2016年第4期424-429,共6页
Chinese Journal of Clinical Neurosciences
