Article
Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study.
European journal of neurology - 1 Aug 2025
Corcia P, Erazo D, Amador M D M, Beltran S, Bernard E, Blasco H, Boutoleau-Bretonniere C, Bruneteau G, Camdessanche J P, Camu W, Cassereau J, Choumert A, Codron P, Cintas P, De La Cruz E, Danel V, Desnuelle C, Eyraud N, Esselin F, Fauret A L, Lefilliatre M, Fleury M C, Genestet S, Grapperon A M, Guy N, Jacquin-Piques A, Beauvais K, Lautrette G, Le Masson G, Mathis S, Piegay A S, Pittion-Vouyovitch S, Sauleau P, Soriani M H, Vershueren A, Mouzat K, Guissart C, Couratier P, Vourc'h P
Abstract excerpt
RATIONALE: Amyotrophic Lateral Sclerosis (ALS) is a fatal motoneuron disease in which genetics plays a central role for both familial and sporadic ALS cases. Systematic genetic analysis for all ALS patients is recommended at the time of diagnosis, leading to an early proposal of specific genetic therapy. Currently, C9orf72 is considered the most frequently mutated gene in ALS. Patients with a SOD1 pathogenic or...
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