遗传性脊髓小脑性共济失调6型一家系病例报告  

A family case report of spinocerebellar ataxia 6

作　　者：何梦妤 卢丽君 谭彧 邓幼清 HE Mengyu;LU Lijun;TAN Yu;DENG Youqing(Department of Neurology,Nanchang first Hospital,Nanchang University,NanChang 330006,China)

机构地区：[1]南昌大学南昌市第一医院神经内科,南昌330006

出　　处：《中国神经精神疾病杂志》2025年第2期112-114,共3页Chinese Journal of Nervous and Mental Diseases

摘　　要：脊髓小脑性共济失调6型(spinocerebellar ataxia 6,SCA6)是一组常染色体显性遗传性疾病,临床表现以共济失调为主,典型特征为遗传早现现象。本文报告1家系SCA6以提高对该病的认识,提高临床诊断率。患者61岁男性,以言语含糊、行走不稳为主要表现,伴头晕、饮水呛咳、肢体麻木及睡眠障碍,诱发电位、神经电图、皮肤交感反应、脑电图、痴呆量表等均无明显异常,头颅MRI见小脑明显萎缩,基因检测确诊SCA6型,其父有类似表现,其女为异常基因携带者,予以营养神经、改善共济失调、康复训练等治疗,随访1年病情无明显进展。Spinocerebellar ataxia type 6(SCA6)is a group of autosomal dominant hereditary diseases characterized by cerebellar ataxia,with the typical feature of genetic anticipation.This study reports a family case of SCA6 to enhance understanding of the disease and improve clinical diagnosis rate.The patient was a 61-year-old male,presented mainly with slurred speech and unsteady gait,accompanied by dizziness,choking on drinking water,numbness of limbs,and insomnia.Evoked potential,nerve conduction studies,skin sympathetic responses,electroencephalogram,dementia rating scale,and other tests showed no significant abnormalities.Head MRI revealed marked cerebellar atrophy,and genetic testing confirmed SCA6.His father exhibited similar symptoms,while his daughter was a carrier of the abnormal gene.The patient received treatment including nutritional support,improvement of ataxia,and rehabilitation training.After a one-year follow-up,there was no significant progression of the disease.

关 键 词：遗传性脊髓小脑共济失调6型 临床特征 MRI 小脑萎缩 基因检测 遗传早现 丁螺环酮机制 治疗发展 

分 类 号：R744.7[医药卫生—神经病学与精神病学]