title: [Recent advances in clinical and genetic research of spinocerebellar ataxia type 36].
abstract: Non-coding expansion spinocerebellar ataxias (SCAs) are a group of autosomal dominant neurodegenerative diseases characterized by "CTA/CTG", "ATTCT", "TGGAA" expansion in non-coding region of the causative gene. Until now, 5 subtypes including SCA8, SCA10, SCA12, SCA31 and SCA36 have been mapped. Recently, the causative mutation for SCA36, namely intronic hexanucleotide GGCCTG expansion in NOP56 gene, has been identified in Japanese and Spanish pedigrees in succession. Compared with other subtypes of SCAs, there are certain distinctive characteristics for SCA36. The clinical and genetic features of SCA36 are reviewed in this paper.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China. wjling8002@126.com.
authors.forename: Sheng
authors.initials: S
authors.lastname: Zeng
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.forename: Junling
authors.initials: J
authors.lastname: Wang
mesh_terms: D001483:Base Sequence; D035843:Biomedical Research / Q000379:methods / Q000639:trends; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D042622:DNA Repeat Expansion / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D009687:Nuclear Proteins / Q000235:genetics*; D009841:Oligonucleotides / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology
chemical_list: C486600:NOP56 protein, human; D009687:Nuclear Proteins; D009841:Oligonucleotides