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| 以震颤为主要特征的脊髓小脑共济失调3型临床特征及遗传学分析 |
| Clinical features and genetic analysis of spinocerebellar ataxia type 3 characterized by tremor |
| 投稿时间：2025-06-01 修订日期：2025-06-04 |
| DOI： |
| 中文关键词: 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 |
| 英文关键词: Spinocerebellar ataxia type 3 genetic testing Sanger Verification CAG repeat amplification Tremor Slowness of movement, peripheral neuropathy |
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| 中文摘要: |
| 目的 探讨一个以震颤为主要特征的脊髓小脑共济失调 ３ 型家系(ＳＣＡ３)的临床及遗传学特征,为临床诊断提供依据。方法 收集以震颤为特征的遗传性脊髓小脑共济失调 3 型 1 家系患者的临床特征、影像学、基因检测和药物反应性,对其进行总结,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。 |
| 英文摘要: |
| ABSTRACT: Objective To investigate the clinical and genetic characteristics of a spinocerebellar ataxia type 3 family (SCA3) characterized by tremor, and to provide a basis for clinical diagnosis. Methods The clinical characteristics, imaging examination, genetic test results and drug response of patients with hereditary spinocerebellar ataxia type 3 and one family characterized by tremor were collected, and the relevant literature was reviewed. Results The pedigree included 9 patients, of whom 4 were genetically confirmed (CAG repeats in the ATXN3 gene: 57-58, validated by Sanger sequencing as 60-62), and 5 were suspected cases. Core features included: Among the 4 confirmed cases, 2 presented with tremor as the main symptom (postural/kinetic tremor, aggravated by activity), 1 had bradykinesia and a history of epilepsy, and 1 had peripheral neuropathy.Brain MRI showed no significant atrophy.Compared to typical SCA3 patients with CAG repeats of 66-73 (primarily exhibiting ataxia), this pedigree showed prominent tremor symptoms, which were partially alleviated by Madopar treatment.Conclusion The clinical phenotype of SCA3 is associated with the number of CAG repeats (60-62 repeats primarily manifest as tremor/bradykinesia, while 66-73 repeats primarily manifest as ataxia). Attention should be paid to the identification of atypical symptoms, and genetic testing is crucial for definitive diagnosis. |
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