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- Title
Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.
- Authors
Bernard, Emilien; Pegat, Antoine; Svahn, Juliette; Bouhour, Françoise; Leblanc, Pascal; Millecamps, Stéphanie; Thobois, Stéphane; Guissart, Claire; Lumbroso, Serge; Mouzat, Kevin
- 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.
- Subjects
LYON (France); EXOMES; AMYOTROPHIC lateral sclerosis; GENETIC mutation; GENETIC testing; SUPEROXIDE dismutase; PHENOTYPES
- Publication
International Journal of Molecular Sciences, 2020, Vol 21, Issue 18, p6807
- ISSN
1661-6596
- Publication type
Article
- DOI
10.3390/ijms21186807