中风与神经疾病杂志2024，Vol.41Issue(8)：753-756,4.DOI:10.19845/j.cnki.zfysjjbzz.2024.0145
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
Clinical and genetic features of autosomal recessive spinocerebellar ataxia type 1:A case report
杨丽 1马子珊 1马伯年 1罗嘉嘉 1张维 1杨智峰 1任紫晗 1兰甜甜 1陈桂生2
作者信息
- 1. 宁夏医科大学第一临床医学院,宁夏 银川 750004
- 2. 宁夏医科大学总医院神经内科,宁夏 银川 750004||宁夏颅脑疾病重点实验室,宁夏 银川 750004
- 折叠
摘要
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.关键词
常染色体隐性脊髓小脑共济失调1型/共济失调伴眼动失用2型/AOA2/SETX/复合杂合突变Key words
Autosomal recessive spinocerebellar ataxia type 1/Ataxia with oculomotor apraxia type 2/AOA2/SETX/Compound heterozygous mutation分类
医药卫生引用本文复制引用
杨丽,马子珊,马伯年,罗嘉嘉,张维,杨智峰,任紫晗,兰甜甜,陈桂生..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[J].中风与神经疾病杂志,2024,41(8):753-756,4.
