马查多-约瑟夫病的分子遗传学研究进展

Recent advances in molecular genetics of spinocerebellar ataxia type 3/Machado-Joseph disease

迄今为止，至少已定位了常染色体显性遗传小脑性共济失调28种不同的基因型，已克隆18个致病基因，其中对不同种族和地域的研究表明，马查多．约瑟夫病（Machado—Joseph disease，MJD），即脊髓小脑性共济失调3型（spinocerebeHarat axiatype3，SCA3），是世界上最常见的SCAs亚型。它是由位于致病基因MJD13’端的CAG三核苷酸重复扩增突变引起的一种具有明显的临床和遗传异质性的神经系统退行性疾病。作者就SCA3／MJD的分子遗传学方面的研究进展进行综述。

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.