A case of early-onset spinocerebellar ataxia type 5
10.3760/cma.j.cn113694-20220331-00256
- VernacularTitle:早发型脊髓小脑共济失调5型1例
- Author:
Yuzi ZHANG
1
;
Ting SHEN
;
Shixiong YANG
;
Hansong WU
;
Yuxin LIU
Author Information
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
- Keywords:
Spinocerebellar ataxia;
SPTBN2 gene;
β-Ⅲ spectrin
- From:
Chinese Journal of Neurology
2022;55(12):1389-1392
- CountryChina
- Language:Chinese
-
Abstract:
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 the β-Ⅲ spectrin, leading to the occurrence of disease.
