目的 探讨脊髓小脑性共济失调一家系的临床表现、影像学特点和基因型及三者之间的联系。方法 描述一家系5例患者的临床表现,总结其特点,对部分患者行头颅磁共振及基因检测。结果 一家系4代7名成员中共有5例发病,以行走不稳和言语含糊为突出表现,头颅MRI示小脑萎缩,基因检测SCA3相关基因的CAG重复数为65次,确诊为SCA3。结论 SCAs为一组神经系统遗传性疾病,临床以共济失调和构音障碍为突出表现,基因检测可为临床提供准确的分型。

Objective To explore the relation of clinical manifestation, MRI and gene data with the spinocerebellar ataxia. Methods To give a description of the clinical manifestation of the spinocerebellar ataxia patients, summarize the characteristics, and part of them to make the MRI and genetic detection. Results There are 5 patients among 7 numbers of 4 generations in the family.The main clinic features included gait ataxia and ambiguity in speech. Brain MRI showed atrophy on cerebellum. The repeated times of CAG of SCA3 were 65, diagnosed as SCA3 patient. Conclusion SCAs is one group of genetic diseases. The clinical manifestations are ataxia and dysarthria. Molecular genetic detection can be used for SCA subtype diagnosis.