title: [Recent advance in genetic study of hereditary autosomal recessive cerebellar ataxia].
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.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P R China.
authors.forename: Wen-juan
authors.initials: WJ
authors.lastname: Guan
authors.forename: Jun-ling
authors.initials: JL
authors.lastname: Wang
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
mesh_terms: D002524:Cerebellar Ataxia / Q000145:classification / Q000235:genetics* / Q000378:metabolism; D005808:Genes, Recessive; D006801:Humans