Recent advances in molecular genetics of spinocerebellar ataxia type 3/Machado-Joseph disease.
- Author:
Dandan JIA
1
;
Hong JIANG
;
Beisha TANG
Author Information
1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P. R. China.
- Publication Type:Journal Article
- MeSH:
Ataxin-3;
Humans;
Machado-Joseph Disease;
genetics;
Molecular Biology;
Mutation;
Nerve Tissue Proteins;
chemistry;
genetics;
metabolism;
Nuclear Proteins;
chemistry;
genetics;
metabolism;
Repressor Proteins;
chemistry;
genetics;
metabolism
- From:
Chinese Journal of Medical Genetics
2008;25(6):660-662
- CountryChina
- Language:Chinese
-
Abstract:
To date, nearly 28 distinct genetic loci of autosomal dominant cerebellar ataxias have been identified, among them 18 disease-causing genes have been cloned. Of these, Machado-Joseph disease (MJD), also named as spinocerebellar ataxia type 3 (SCA3), is perhaps the most common subtype among different races and origins in the world. It is a neurodegenerative disease caused by the expansion of a CAG repeat in the coding region of the MJD1 gene, with obvious clinical and genetic heterogeneity. In this review, authors covered the recent advances in molecular genetic of SCA3/MJD.
