Cerebellar ataxia, neuropathy, vestibular areflexia syndrome with replication factor C subunit 1 gene mutation: a case report and literature review
10.3760/cma.j.cn113694-20211220-00903
- VernacularTitle:RFC1基因突变导致伴周围神经病和前庭反射消失的小脑性共济失调综合征1例并文献复习
- Author:
Jiayu FU
1
;
Xiaoxuan LIU
;
Yu FU
;
Ji HE
;
Shuo ZHANG
;
Jieying WU
;
Dongsheng FAN
Author Information
1. 北京大学第三医院神经内科，北京100191
- Keywords:
Cerebellar ataxia;
Reflex, vestibulo-ocular;
Peripheral nerves;
Trinucleotide repeat expansion;
RFC1 gene
- From:
Chinese Journal of Neurology
2022;55(7):690-698
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical and genetic characteristics of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with replication factor C subunit 1 (RFC1) gene mutation to improve the understanding of this disease.Methods:A case of CANVAS diagnosed in the Peking University Third Hospital in January 2021 was reported. Detailed genetic analyses of ataxia were performed with DNA extracted from the peripheral blood of the patient. Studies including pathogenic variants of RFC1 gene causing CANVAS were reviewed and the clinical and genetic characteristics of the disease were summarized.Results:The patient was a 51-year-old female with the prominent manifestation of progressive walking instability. And the clinical data met the diagnostic criteria of CANVAS. The genetic tests excluded other hereditary ataxia mutations and identified the biallelic expansion of the pathogenic variant structure (AAGGG)exp repeat amplification in RFC1 gene. A total of 14 studies on CANVAS with RFC1 gene mutation were reviewed. The overall mutation rate of RFC1 gene in CANVAS was 68%-100%, and it varied in sporadic and familial CANVAS. And the mutation had ethnic differences.Conclusions:Among adult patients with late-onset ataxia, the combination of brain magnetic resonance imaging, electrophysiology tests and vestibular function examination is beneficial to the identification of CANVAS. And the genetic test of RFC1 gene has significant value in the diagnosis of this disease. This patient with CANVAS expands the disease spectrum of ataxia in China, and confirms that RFC1 gene mutation is of great significance in the screening of ataxia disorders in the Chinese population.
