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

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

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

Emilien Bernard 1 2, Antoine Pegat 1, Juliette Svahn 1, Françoise Bouhour 1, Pascal Leblanc 2, Stéphanie Millecamps 3, Stéphane Thobois 1 4 5, Claire Guissart 6, Serge Lumbroso 6, Kevin Mouzat 6

Affiliations 

• PMID: 32948071
 
• DOI: 10.3390/ijms21186807

Free article

Abstract

Mutations in the copper zinc superoxide dismutase 1 (SOD1) 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 SOD1 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 H81Y and D126N mutations. Splice site mutations were detected in two families. We discuss implications concerning genetic screening of SOD1 gene in familial and sporadic ALS.

Keywords: SOD1; amyotrophic lateral sclerosis; copper zinc superoxide dismutase 1.

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