Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia

Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia

Abstract Background Hereditary ataxia is a group of neurodegenerative diseases with progressive cerebellar ataxia of the gait and limbs as the main symptoms. The genetic patterns of the disease are diverse but it is mainly divided into autosomal dominant cerebellar ataxia (ADCA) and autosomal recess...

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Bibliographic Details
Main Authors: Jiajun Chen, Yajuan Sun, Xiaoyang Liu, Jia Li
Format: Article
Language:English
Published: BMC 2019-07-01
Series:BMC Neurology
Subjects:
Hereditary ataxia
ADCA
L-type calcium channel
CACNA1C
Mutation
Online Access:http://link.springer.com/article/10.1186/s12883-019-1381-8

Internet

http://link.springer.com/article/10.1186/s12883-019-1381-8

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