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Article

Unveiling ten novel SETX mutations: implications for ALS pathogenesis and clinical diversity.

Somatosensory & motor research - 1 Jan 2025

Chen Xuecai, Chen Xiaodan, Lin Xiangyu, Zhou Weiwei, Hu Hailiang, Jiang Haishan

Abstract excerpt

OBJECTIVE: To investigate the relationship between newly identified senataxin (SETX) gene mutations and the clinical manifestation of Amyotrophic Lateral Sclerosis (ALS), enhancing understanding of the genetic underpinnings associated with this disorder. METHODS: A cohort study was conducted at Nanfang Hospital, involving comprehensive genetic sequencing of ALS patients to identify novel SETX mutations. Homology...

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Identifiers

PMID: 40338003
DOI: 10.1080/08990220.2025.2500940

Genes

SETX

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