【摘要】 遗传性脊髓小脑共济失调(spinocerebellar ataxias,SCAs)呈常染色体显性遗传,是以小脑性运动机能障碍为主要临床特征的运动失调性疾病。发病年龄多在青壮年,亦有报导在幼儿和老年时期发病。该病情进展缓慢,逐渐加重,并伴有复杂的小脑症状和非小脑表现。由于动态突变是其主要突变方式,导致该疾病临床症状复杂,具有明显的临床变异性和遗传异质性。本文结合相关文献对SCAs的发病机制及临床表型进行综述。更多还原

【Abstract】 Hereditary spinocerebellar ataxias( SCAs) are an autosomal dominant disorder most commonly presenting by motor dysregulation or cerebellar dysfunction. The age of onset is most commonly young and middle aged also being rarely reported in early childhood and old age. The disease progression is slow,gradually aggravating and accompanied by complicated cerebellar and non-cerebellar symptoms. Dynamic mutation is the main mutational type in this disease resulting in complex clinical symptoms with obvious clinical variability and genetic heterogeneity. This review discusses the pathogenesis and clinical symptoms of SCAs aiming at expanding our knowledge regarding this area.更多还原