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Article

SOD1 mutations in Taiwanese ALS patients: Clinical characteristics, frequency, and a p.T138R founder effect.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2026

Jih Kang-Yang, Tsai Yu-Sheun, Fang Shih-Yu, Hsu Fang-Chi, Sytwu Hou-Ping, Liao Yi-Chu, Tsai Pei-Chien, Lee Yi-Chung

Abstract excerpt

OBJECTIVE: Mutations in SOD1 are a well-established genetic cause of amyotrophic lateral sclerosis (ALS), exerting toxic gain-of-function effects that promote protein misfolding and aggregation in motor neurons and glial cells. The emergence of SOD1-targeted antisense oligonucleotide therapy underscores the clinical importance of precise genetic diagnosis. This study aimed to determine the frequency, clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41428955
DOI: 10.1080/21678421.2025.2604236

Genes

SOD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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