CAJ | 학술논문

脊髓小脑性共济失调是一类单基因常染色体显性遗传病,不同的基因突变将导致不同的遗传亚型.随着分子遗传学技术的飞速发展,目前已经获得基因定位的有近30种亚型,多数是由于三核苷酸重复序列异常扩增引起.其中部分亚型的致病基因已被克隆.本文主要就新近发现的几种亚型作简要综述.
척수소뇌성공제실조시일류단기인상염색체현성유전병,불동적기인돌변장도치불동적유전아형.수착분자유전학기술적비속발전,목전이경획득기인정위적유근30충아형,다수시유우삼핵감산중복서렬이상확증인기.기중부분아형적치병기인이피극륭.본문주요취신근발현적궤충아형작간요종술.
Spinocerebellar ataxia is a group of autosomal dominant and heterogeneous neurodegenerative disease. Different genetic mutation may cause different subtypes of spinocerbellar ataxia. Up to now, with the rapid development of molecular genetic study, nearly 30 mutated genes associated with various subtypes of spinocerebella ataxias have been located and some of them have been identified. Most of the mutated genes are caused by the abnormal expansion of trinucleotide. In this review, the clinical and genetic features of the recently identified spinocerebellar ataxias will be described.