Article

High Prevalence of <i>SOD1</i> Pathogenic Variants in the UK Biobank: Implications for Early Intervention in ALS

2025-06-13

Abstract excerpt

SOD1 is the second most mutated gene in European amyotrophic lateral sclerosis (ALS) patients, after C9orf72 expansion. Given the recent authorisation of SOD1-directed antisense oligonucleotide for use in SOD1-ALS patients, prompt screening for SOD1 mutations in ALS patients is highly recommended. Large-scale genomic analysis could inform on the population-based prevalence of SOD1 mutation carriers, who would p...

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Literature Corpus work: e15ca7b8-39f1-59c2-9bf9-02a4f05475b1
DOI: 10.1101/2025.06.12.25329421

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