Clinical and Molecular Landscape of ALS Patients with <i>SOD1</i> Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study
oleh: Emilien Bernard, Antoine Pegat, Juliette Svahn, Françoise Bouhour, Pascal Leblanc, Stéphanie Millecamps, Stéphane Thobois, Claire Guissart, Serge Lumbroso, Kevin Mouzat
| Format: | Article |
|---|---|
| Diterbitkan: | MDPI AG 2020-09-01 |
Deskripsi
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.