An analysis of variants in TARDBP in the Korean population with amyotrophic lateral sclerosis: comparison with previous data.

ABSTRACT: The TARDBP gene variant is a known major cause of amyotrophic lateral sclerosis (ALS), with limited reports of Korean patients with ALS harboring the variants in TARDBP. This large cohort study introduces four ALS patients who share the p.M337V variant of the TARDBP, allowing for an investigation of clinical characteristics and prognosis by analyzing previously reported cases with the same variant. From November 2014 to August 2022, participants were recruited from two tertiary hospitals in Seoul, Korea. Clinical characteristics of patients diagnosed with ALS carrying the variant in TARDBP were evaluated. Previous articles demonstrating subjects' characteristics were reviewed. Four patients were identified with the pathogenic missense variant (c.1009A>G; p.M337V) in the TARDBP. The mean ag

SUBMITTER: Sung W 

PROVIDER: S-EPMC10620191 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature