Clinical and genetic features of autosomal recessive spinocerebellar ataxia type 1:A case report

VernacularTitle:1例常染色体隐性遗传脊髓小脑共济失调1型的临床特点及基因分析
Author: Li YANG ¹ ; Zishan MA ; Bonian MA
Author Information

1. 宁夏医科大学第一临床医学院,宁夏银川 750004
Keywords: Autosomal recessive spinocerebellar ataxia type 1; Ataxia with oculomotor apraxia type 2; AOA2; SETX; Compound heterozygous mutation
From: Journal of Apoplexy and Nervous Diseases 2024;41(8):753-756
CountryChina
Language:Chinese
Abstract: This study analyzes the clinical phenotype and genetic testing results of a patient with autosomal recessive spinocerebellar ataxia type 1(SCAR1)caused by SETX gene mutations.Through medical history collection,neurological examination,radiological examination,neural electrophysiological examination,and genetic analysis,compound heterozy-gous mutations were found in the SETX gene on chromosome 9,i.e.,c.5812C>T(p.Q1938X)and c.501_508del,and these mutation sites were located in exon 14 and exon 6,respectively,and had not been reported in the literature.This study discovers for the first time that these two mutations can cause SCAR1,providing new insights into the pathogenic mechanism of the SETX gene in SCAR1 and a reference for the diagnosis and treatment of similar cases in the future.