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Article

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis.

Annals of neurology - 1 Jun 2026

Gagliardi Delia, Villella Chiara, Zanovello Matteo, Iacobelli Virginia, Corti Stefania, Comi Giacomo Pietro, Fratta Pietro, Houlden Henry, Tucci Arianna, Ronchi Dario

Abstract excerpt

OBJECTIVE: SOD1 is the second most frequently mutated gene in European patients with amyotrophic lateral sclerosis (ALS). Given the recent authorization of SOD1-targeted antisense oligonucleotides for SOD1-ALS, prompt screening for SOD1 mutations in patients with ALS patients is highly recommended. Large-scale genomic analysis could inform on the population-based prevalence of SOD1 mutation carriers, who would...

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Identifiers

PMID: 41852184
DOI: 10.1002/ana.78195
PMCID: PMC13206312

Genes

SOD1

Variants

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