小脑性共济失调伴神经病和前庭反射消失综合征的研究进展

Research progress on cerebellar ataxia,neuropathy,vestibular areflexia syndrome

小脑性共济失调伴神经病和前庭反射消失综合征(CANVAS)是一种以小脑性共济失调、感觉神经病和双侧前庭病变为特征的常染色体隐性遗传病。最近研究证实复制因子C亚单位1(RFC1)基因内含子区的AAGGG双等位重复扩增是该病的致病原因。近2年研究者通过对基因确诊的CANVAS进行临床研究,显著扩展了该病的临床表型并提出了RFC1基因相关疾病这一概念。文中对CANVAS的临床表现、特征性辅助检查和遗传学改变作一系统综述并对其诊断标准进行讨论,以提高临床医师对该病的认识。

Cerebellar ataxia,neuropathy,vestibular areflexia syndrome(CANVAS)is an autosomal recessive hereditary disorder characterized by cerebellar ataxia,sensory neuropathy and bilateral vestibulopathy.Recently a biallelic intronic AAGGG repeat expansion in the replication factor C1(RFC1)gene was identified as the cause of this disorder.Clinical studies of genetically-confirmed CANVAS in the past 2 years have significantly expanded the clinical phenotype of the disease and the concept of RFC1-related disease was proposed.The clinical manifestations,characteristic auxiliary examination,genetic changes of CANVAS were reviewed and the new diagnostic criteria to improve clinicians′awareness of the disease was discussed in this paper.