Research progress on cerebellar ataxia, neuropathy, vestibular areflexia syndrome
10.3760/cma.j.cn113694-20211227-00929
- VernacularTitle: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
- Author:
Fangchao JIANG
1
;
Anqi WANG
;
Di ZHONG
;
Guozhong LI
Author Information
1. 哈尔滨医科大学附属第一医院神经内科，哈尔滨 150001
- Keywords:
Cerebellar ataxia;
Vestibular diseases;
Peripheral nerves;
Replication factor C subunit 1
- From:
Chinese Journal of Neurology
2022;55(9):1034-1040
- CountryChina
- Language:Chinese
-
Abstract:
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.
