High Prevalence of <scp> <i>SOD1</i> </scp> Pathogenic Variants in the <scp>UK</scp> Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis

Incomplete and age-related penetrance, along with underascertainment due to disease heterogeneity and limitations in data collection, likely account for the reduced number of symptomatic patients identified. Our findings highlight the need to identify genetic and environmental factors, as well as biological indicators, able to influence disease penetrance and phenoconversion risk in presymptomatic carriers and to predict treatment response in patients. ANN NEUROL 2026.