Recent advance in CAPOS syndrome / 中华神经医学杂志

ABSTRACT

CAPOS syndrome,manifested as cerebellar ataxia,areflexia,pes cavus,optic atrophy,and sensorineural deafiness,is one of the ATP1A3 gene-related disorders with an autosomal dominant inheritance pattern.The specific pathogenesis of the disease is currently unclear and the clinical manifestations are complicated.This review will provide an overview of CAPOS syndrome in the aspect of pathogenesis,clinical manifestations,diagnosis,differential diagnosis and treatment.