Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study.

ABSTRACT:

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 probably pathogenic variants (ACMG classification) are eligible for SOD1 antisense oligonucleotide therapy.

Objective

To determine the frequency of SOD1 variants and C9orf72 G4C2 repeats in a French ALS population and to describe genotype-phenotype relationships.

Material and methods

One thousand incident ALS patients were enrolled from 22 ALS centers in France

SUBMITTER: Corcia P 

PROVIDER: S-EPMC12317102 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature