脊髓小脑性共济失调12型的临床特征(附1家系报告)  

Clinical features of spinocerebellar ataxia type 12(report of one family)

作　　者：刘美丽 巩凤超 黄安琪 冯焕焕[3] 许保磊[3] 许二赫[3] LIU Meili;GONG Fengchao;HUANG Anqi(Department of Encephalopathy 2,Cangzhou Hospital of Integrated TCM-WM of Hebei,Cangzhou 061000,China)

机构地区：[1]河北省沧州中西医结合医院脑病二科,061000 [2]山东第一医科大学第二附属医院神经内科 [3]首都医科大学宣武医院神经内科

出　　处：《临床神经病学杂志》2025年第1期60-64,共5页Journal of Clinical Neurology

摘　　要：目的探讨脊髓小脑性共济失调12型(SCA12)的临床特征。方法回顾性分析一家系经基因检测明确为SCA12患者的临床资料,并进行文献复习。结果家系中3例患者诊断为SCA12。其中2例有临床症状的患者年龄均>45岁,临床表现有头部震颤、上肢震颤、言语震颤、肌张力障碍、共济失调;另外1例31岁,目前未出现相关临床表现。头颅MRI检查示2例发病患者大脑皮质萎缩较小脑萎缩严重。结论SCA12通常以上肢震颤起病,以头震颤起病比较少见,随着疾病进展出现共济失调、肌张力障碍、帕金森综合征和认知障碍等症状。由于其临床特征具有高度异质性,基因检测有助诊断。Objective To investigate the clinical features of spinocerebellar ataxia 12(SCA12).Methods The clinical data of a family with SCA12 diagnosed by gene detection were retrospectively analyzed,and the literature was reviewed.Results Three patients in this family were diagnosed as SCA12.Among them,2 patients with clinical symptoms were>45 years old,the clinical symptoms were head tremor,upper limb tremor,voice tremor,dystonia and ataxia.Another one case was 31 years old,did not have relevant clinical manifestations yet.Cranial MRI showed that cerebral cortex atrophy was more serious than cerebellar atrophy in 2 patients.Conclusion SCA12 typically presents with upper limb tremor,with head tremor being less common,as the disease progresses,symptoms such as ataxia,dystonia,Parkinsonism,and cognitive impairment may develop,due to its highly heterogeneous clinical features,genetic testing can be helpful for diagnosis.

关 键 词：脊髓小脑性共济失调 常染色体显性遗传 家系 基因 

分 类 号：R744.7[医药卫生—神经病学与精神病学]