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Article

C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role?

Revue neurologique - 1 May 2024

Sellier C, Corcia P, Vourc'h P, Dupuis L

Abstract excerpt

The major gene underlying monogenic forms of amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia (FTD) is C9ORF72. The causative mutation in C9ORF72 is an abnormal hexanucleotide (G4C2) repeat expansion (HRE) located in the first intron of the gene. The aim of this review is to propose a comprehensive update on recent developments on clinical, biological and therapeutics aspects related to C9ORF72 in...

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PMID: 38609750
DOI: 10.1016/j.neurol.2024.03.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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