Recent advance in CAPOS syndrome
10.3760/cma.j.issn.1671-8925.2019.04.021
- VernacularTitle:CAPOS综合征研究进展
- Author:
Yaqin XIANG
1
;
Beisha TANG
;
Jifeng GUO
Author Information
1. 中南大学湘雅医院神经内科
- Keywords:
CAPOS syndrome;
Pathogenesis;
Clinical manifestation;
Diagnosis;
Treatment
- From:
Chinese Journal of Neuromedicine
2019;18(4):430-432
- CountryChina
- Language:Chinese
-
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.
