摘要
Abstract
Objective:To explore the clinical features of spinocerebellar ataxia type 3(SCA3)characterized by tremor as the main feature,and to analyze a family with extrapyramidal signs such as tremor and peripheral neuropathy,providing a basis for clinical diagnosis.Methods:Ten SCA3 patients characterized by tremor were collected,including 4 from the same family.The clinical features,imaging,genetic testing,and drug responsiveness of 6 non-family patients,4 familial patients,and their family members(5 cases)were summarized,along with a review of related literature.Results:Among the 9 patients in the family,4 were diagnosed through genetic testing(ATXN3 gene CAG repeats 57～58 times,Sanger validation 60～62 times),and 5 were suspected patients.Among the 4 confirmed cases,2 presented with tremor as the main symptom(postural/action tremor,exacerbated by activity),1 was accompanied by bradykinesia and a history of epilepsy,and 1 had peripheral neuropathy.No significant atrophy was observed on brain MRI.Compared with typical SCA3 patients with CAG repeats 66～73 times(mainly ataxia),tremor symptoms were significant in this family,partially relieved by Madopar treatment.Conclusion:The clinical phenotype of SCA3 may be related to the number of CAG repeats(60～62 repeats mainly presenting as tremor/bradykinesia,66～73 repeats mainly as ataxia).It is necessary to pay attention to the identification of atypical symptoms,with genetic testing being crucial for diagnosis.关键词
脊髓小脑共济失调3型/基因检测/Sanger验证/CAG重复扩增/震颤/运动迟缓,周围神经病Key words
spinocerebellar ataxia type 3/genetic testing/sanger verification/CAG repeat amplification/trem-or/slowness of movement/peripheral neuropathy分类
医药卫生
