Clinical and genetic features of autosomal recessive spinocerebellar ataxia type 1:A case report
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.
Autosomal recessive spinocerebellar ataxia type 1Ataxia with oculomotor apraxia type 2AOA2SETXCompound heterozygous mutation
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