目的：探讨以震颤为主要特征的脊髓小脑性共济失调（spinocerebellar ataxia，SCA）3型临床特征，并分 析一个以震颤等锥体外系体征和周围神经病变为特征的家系，为临床诊断提供依据。方法：收集以震颤为 特征的SCA 3 型患者10例，其中4例为同一家系；对6例非家系患者、4例家系患者及其家系成员（5例）的临 床特征、影像学、基因检测和药物反应性等进行总结，并进行相关文献复习。结果：家系中共9例患者，4例 经基因检测确诊（ATXN3基因CAG重复57～58次，Sanger验证60～62次），5例疑似患者。核心特征：4例 确诊者中2例以震颤为主症（姿势性/动作性震颤、活动加重），1例伴运动迟缓及癫痫史，1例伴周围神经病 变。头颅MRI未见明显萎缩。与其他CAG重复66～73次的典型SCA3患者（以共济失调为主）相比，本家 系患者震颤症状显著，经美多芭治疗部分缓解。结论：SCA3临床表型可能与CAG重复次数相关（60～62次 以震颤/运动迟缓为主，66～73次以共济失调为主），需重视非典型症状识别，基因检测为确诊关键。

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.