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.
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)
出处
《中国神经精神疾病杂志》
北大核心
2025年第2期112-114,共3页
Chinese Journal of Nervous and Mental Diseases
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
Spinocerebellar ataxia type 6
Clinical features
MRI
Cerebellar atrophy
Genetic test
Genetic anticipation
Mechanism of thiazolidinedione
Improvement of treaments
