[Recent advances in molecular genetics of spinocerebellar ataxia type 3/Machado-Joseph disease].
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.
Jia
Dandan
D
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P. R. China.
Jiang
Hong
H
Tang
Beisha
B
D000067699:Ataxin-3; D006801:Humans; D017827:Machado-Joseph Disease / Q000235:genetics*; D008967:Molecular Biology; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D012097:Repressor Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism
D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3