Intrafamilial phenotypic variation in spinocerebellar ataxia type 23

Intrafamilial phenotypic variation in spinocerebellar ataxia type 23

Abstract Background Spinocerebellar ataxia type 23 (SCA23) is an autosomal dominant cerebellar ataxia caused by pathogenic variants in the prodynorphin gene (PDYN). The frequency of PDYN variants is reportedly very low (~ 0.1%) in several ataxia cohorts screened to date. Case presentations We found...

Full description

Bibliographic Details
Main Authors: Shunichi Satoh, Yasufumi Kondo, Shinji Ohara, Tomomi Yamaguchi, Katsuya Nakamura, Kunihiro Yoshida
Format: Article
Language:English
Published: BMC 2020-06-01
Series:Cerebellum & Ataxias
Subjects:
Spinocerebellar ataxia type 23 (SCA23)
Prodynorphin
Multiple system atrophy (MSA)
Online Access:http://link.springer.com/article/10.1186/s40673-020-00117-x

Internet

http://link.springer.com/article/10.1186/s40673-020-00117-x

Similar Items