Spinocerebellar ataxia type 11: a case report
10.3760/cma.j.cn113694-20210602-00382
- VernacularTitle:脊髓小脑性共济失调11型1例
- Author:
Min ZENG
1
;
Yaru ZHANG
;
Keliang CHEN
;
Mei CUI
;
Jintai YU
Author Information
1. 复旦大学附属华山医院神经内科，上海 200040
- Keywords:
Spinocerebellar ataxia 11;
Tau-tubulin kinase 2;
Mutation;
Cerebellar ataxia
- From:
Chinese Journal of Neurology
2022;55(2):156-159
- CountryChina
- Language:Chinese
-
Abstract:
Spinocerebellar ataxia (SCA) is a group of highly heterogeneous autosomal dominant genetic disease, including many subtypes. SCA11 is a rare subtype of SCA, and is caused by mutant TTBK2 gene. A case of SCA11 was reported in this article. Whole exome sequencing showed that there was a c.1284dupA frameshift mutation in TTBK2 gene. Literature review found that only 6 pedigrees of SCA11 have been reported, but the mutation site of this case is a novel identified mutation that has not been reported in the Human Gene Mutation Database.
