Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study

Abstract

Mutations in the copper zinc superoxide dismutase 1 (<i>SOD1</i>) gene are the second most frequent cause of familial amyotrophic lateral sclerosis (ALS). Nearly 200 mutations of this gene have been described so far. We report all <i>SOD1</i> pathogenic variants identified in patients followed in the single ALS center of Lyon, France, between 2010 and 2020. Twelve patients from 11 unrelated families are described, including two families with the not yet described <i>H81Y</i> and <i>D126N</i> mutations. Splice site mutations were detected in two families. We discuss implications concerning genetic screening of <i>SOD1</i> gene in familial and sporadic ALS.