Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation:A case report  

作　　者：Xin Huang Dong-Sheng Fan 

机构地区：[1]Department of Neurology,Peking University Third Hospital,Beijing 100191,China [2]Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases,Beijing 100191,China

出　　处：《World Journal of Clinical Cases》2022年第2期703-708,共6页世界临床病例杂志

摘　　要：BACKGROUND Autosomal recessive spinocerebellar ataxia type 4(SCAR4)is a type of SCA that is a group of hereditary diseases characterized by gait ataxia.The main clinical features of SCAR4 are progressive cerebellar ataxia,pyramidal signs,neuropathy,and macrosaccadic intrusions.To date,many gene dysfunctions have been reported to be associated with SCAR4.CASE SUMMARY Here,we report a novel compound heterozygous mutation,c.3288delA(p.Asp1097-ThrfsTer6),in the VPS13D gene in a young female Chinese patient.The patient found something wrong with her legs about 10 years ago and presented with the typical characteristics of SCAR4 when she came to the hospital,including ataxia,neuropathy,and positive pyramidal signs.She was then diagnosed with SCAR4 and went home with symptomatic schemes.CONCLUSION SCAR4 is a hereditary disease characterized by ataxia,pyramidal signs,neuropathy,and macrosaccadic intrusions.We report a novel compound heterozygous mutation,c.3288delA(p.Asp1097ThrfsTer6),in the VPS13D gene,which enriches the gene mutation spectrum and provides additional information about SCAR4.

关 键 词：Spinocerebellar ataxia RECESSIVE VPS13D gene Compound heterozygous mutation Case report 

分 类 号：R744.8[医药卫生—神经病学与精神病学]