临床神经病学杂志2025，Vol.38Issue(3)：183-187,5.
脊髓小脑共济失调3型的临床特点及遗传学分析(附1家系报告)
Clinical characteristics and genetic analysis of spinocerebellar ataxia type 3(report of one family)
摘要
Abstract
Objective To report the clinical,pathological,and genetic mutation characteristics of a family with spinocerebellar ataxia type 3(SCA3).Methods A retrospective analysis was conducted on the clinical features of multiple affected members in this family,and the latest relevant research progresses domestically and internationally were summarized.Results The proband presented with unsteady gait,dysarthria,choking while drinking,blurred vision,and severe sleep disturbances.Brain MRI revealed cerebellar atrophy.The proband's sister exhibited similar symptoms,including unsteady gait,dysarthria,choking while drinking,blurred vision,severe sleep disturbances,urinary incontinence,urinary retention,and severe depression.The proband's eldest daughter showed no obvious clinical symptoms but demonstrated poor balance ability.The proband's father,uncle,aunt,grandfather,grandfather's brother,and great-grandmother all died from the disease at the age of 40-50 years.Whole-exome sequencing results indicated that the CAG repeat numbers in the ATXN3 gene were 14/75 in the proband,14/77 in the proband's sister,and 25/77 in the proband's eldest daughter,all exceeding the normal range and confirming the pathogenic mutation.Conclusions SCA3,caused by excessive CAG repeat expansions in the ATXN3 gene,is the most common type of SCA and can affect multiple family members.In addition to ataxia,patients often experience various complications,including autonomic dysfunction,for which conventional treatments are largely ineffective.Whole-exome sequencing technology enables precise diagnosis of the disease and early identification of preclinical patients.关键词
脊髓小脑共济失调3型/ATXN3基因/多聚谷氨酰胺病/全外显子测序Key words
spinocerebellar ataxia type 3/ATXN3 gene/polyglutamine disease/next-generation sequencing分类
临床医学引用本文复制引用
肖翔宇,吕家华,李纺,吕邵敏,郭佳,孔庆霞..脊髓小脑共济失调3型的临床特点及遗传学分析(附1家系报告)[J].临床神经病学杂志,2025,38(3):183-187,5.基金项目
济宁市重点研发计划项目(2023YXNS061) （2023YXNS061）
