ArticleEuropean journal of neurology2025
Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study.
Article in European journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The differences in sex ratio between sporadic and familial amyotrophic lateral sclerosis: a systematic review.Journal of neurology · 2026Pooled it
- Tofersen Treatment inMayo Clinic proceedings. Innovations, quality & outcomes · 2026Article
- A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in Canada.European journal of human genetics : EJHG · 2026Article
- Neuropathological analysis of an ALS patient carrying a SOD1 missense variant and a C9orf72 repeat expansion.Acta neuropathologica · 2026Article
- Epidemiology of Amyotrophic Lateral Sclerosis in the Pays de la Loire, France: A 20-Year Study from a Centralized Diagnostic Center.Neuroepidemiology · 2026Article
- Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study.European journal of neurology · 2025Article
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Authors and funding
39 authors.
Funding
Abstract
rationaleAmyotrophic 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 probably pathogenic variants (ACMG classification) are eligible for SOD1 antisense oligonucleotide therapy.
objectiveTo determine the frequency of SOD1 variants and C9orf72 G4C2 repeats in a French ALS population and to describe genotype-phenotype relationships. MATERIAL AND
methodsOne thousand incident ALS patients were enrolled from 22 ALS centers in France and followed up for 12 months. Epidemiological, familial history, neurological data, and genetic status were collected. MAIN
resultsC9orf72 G4C2 repeats and SOD1 variants were observed in 7.6% and 1.6%, respectively. Fifty percent of SOD1 patients and 51% of C9orf72 patients had sporadic ALS. Fifteen different SOD1 variants were identified within the five exons and one intron. C9orf72 patients had a significantly younger age at onset and a trend toward a faster progression compared to non-expanded C9orf72 patients. Moreover, among the non-SOD1 non-C9orf72 population, patients with at least one C9orf72 copy with two G4C2 repeats had a shorter disease duration.
conclusionThis study confirms SOD1 variants low frequency in the French population and highlights the more rapid disease progression observed in patients carrying C9orf72 expansions. These findings underscore the importance of systematic genetic screening at diagnosis.
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