Recent advance in genetic study of hereditary autosomal recessive cerebellar ataxia.
10.3760/cma.j.issn.1003-9406.2012.06.010
- Author:
Wen-juan GUAN
1
;
Jun-ling WANG
;
Bei-sha TANG
Author Information
1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P R China.
- Publication Type:Journal Article
- MeSH:
Cerebellar Ataxia;
classification;
genetics;
metabolism;
Genes, Recessive;
Humans
- From:
Chinese Journal of Medical Genetics
2012;29(6):673-676
- CountryChina
- Language:Chinese
-
Abstract:
Autosomal recessive cerebellar ataxias (ARCA) are a highly heterogeneous group of rare neurodegenerative diseases affecting both central and peripheral nervous systems. Based on pathological mechanisms, five major types of ARCA may be distinguished, which include mitochondrial ataxia, metabolic disorder, DNA repair defect ataxia, congenital ataxias and degenerative ataxia. This review summarizes clinical features, molecular genetics and recent advances in DNA sequencing of common types of ARCA.
