Recent advances in clinical and genetic research of spinocerebellar ataxia type 36.
10.3760/cma.j.issn.1003-9406.2015.06.029
- Author:
Sheng ZENG
1
;
Beisha TANG
;
Junling WANG
Author Information
1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China. wjling8002@126.com.
- Publication Type:Journal Article
- MeSH:
Base Sequence;
Biomedical Research;
methods;
trends;
Chromosome Mapping;
Chromosomes, Human, Pair 20;
genetics;
DNA Repeat Expansion;
genetics;
Genetic Predisposition to Disease;
genetics;
Humans;
Nuclear Proteins;
genetics;
Oligonucleotides;
genetics;
Spinocerebellar Ataxias;
genetics;
pathology
- From:
Chinese Journal of Medical Genetics
2015;32(6):886-889
- CountryChina
- Language:Chinese
-
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.
