早发型脊髓小脑共济失调5型1例  

A case of early-onset spinocerebellar ataxia type 5

作　　者：张宇姿 沈婷 阳仕雄 吴寒松[1] 刘语新 Zhang Yuzi;Shen Ting;Yang Shixiong;Wu Hansong;Liu Yuxin(Xiaogan Hospital Affiliated to Wuhan University of Science and Technology,Central Laboratory of Xiaogan Central Hospital,Xiaogan 432100,China)

机构地区：[1]武汉科技大学附属孝感医院孝感市中心医院中心实验室,孝感432100

出　　处：《中华神经科杂志》2022年第12期1389-1392,共4页Chinese Journal of Neurology

摘　　要：脊髓小脑性共济失调是一类具有高度临床和遗传异质性的神经系统退行性疾病,通常属于常染色体显性遗传性小脑性共济失调。脊髓小脑性共济失调5型是其中极其罕见的亚型,由致病基因SPTBN2杂合突变导致。现报道1例婴儿期起病的脊髓小脑性共济失调5型患儿,主要表现为整体发育迟缓、共济失调及构音障碍,其SPTBN2基因携带杂合错义突变c.1438C>T(p.Arg480Trp),该突变可能对β-Ⅲ血影蛋白的功能区域产生重要影响,从而导致疾病的发生。Spinocerebellar ataxias are a high clinically and genetically heterogeneous group of neurodegenerative disorders,usually belongs to autosomal dominant hereditary cerebellar ataxia.Spinocerebellar ataxia type 5(SCA5)is one of the extremely rare subtypes and caused by heterozygous mutation of SPTBN2 gene.A case of infant-onset SCA5 patient is reported,mainly manifested as global developmental delay,ataxia and dysarthria,carrying the heterozygous missense variant c.1438C>T(p.Arg480Trp)in the SPTBN2 gene.This mutation may have an important impact on functional regions of theβ-Ⅲspectrin,leading to the occurrence of disease.

关 键 词：脊髓小脑共济失调 SPTBN2基因 β-Ⅲ血影蛋白 

分 类 号：R744.7[医药卫生—神经病学与精神病学]