The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.

ABSTRACT: Superoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some of which are associated with a distinct phenotype. Most studies assess limited variants or sample sizes. In this international, retrospective observational study, we compare phenotypic and demographic characteristics between people with SOD1-ALS and people with ALS and no recorded SOD1 variant. We investigate which variants are associated with age at symptom onset and time from onset to death or censoring using Cox proportional-hazards regression. The SOD1-ALS dataset reports age of onset for 1122 and disease duration for 883 people; the comparator population includes 10,214 and 9010 people respectively. Eight variants are associated with younger age of onset and distinct survival trajectories; a furthe

SUBMITTER: Opie-Martin S 

PROVIDER: S-EPMC9653399 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature