A case report of sporadic spinocerebellar ataxia type 23
10.3760/cma.j.cn113694-20210402-00229
- VernacularTitle:散发型脊髓小脑性共济失调23型一例
- Author:
Fan WU
1
;
Xu WANG
;
Peng ZHANG
;
Yating CHAI
;
Ziyi WANG
;
Jing BAI
Author Information
1. 吉林大学第一医院神经内科，长春 130021
- Keywords:
Spinocerebellar ataxias;
Enkephalins;
Mutation;
Movement disorders
- From:
Chinese Journal of Neurology
2021;54(7):696-699
- CountryChina
- Language:Chinese
-
Abstract:
Spinocerebellar ataxias (SCAs), formerly known as autosomal dominant cerebellar ataxia, are a group of hereditary heterogeneous neurodegenerative disease that contains many subtypes. Spinocerebellar ataxia type 23 (SCA23), one type of SCAs, is caused by mutant prodynorphin (PDYN) gene. A 22-year-old patient was diagnosed with sporadic SCA23 due to gene detection, with a novel identified mutation, PDYN c.647C>T (p.P216L). Located in the dynorphin A-coding-region of PDYN gene, the pathogenic mechanism of the mutation may be relevant to the pathological changes caused by the variant including neurological dysfunction and death of cells. Mild improvement with the patient has been witnessed after active balance and speaking exercise.
