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Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

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

C Sellier¹, P Corcia², P Vourc'h³

¹Centre de recherches en biomédecine de Strasbourg, UMR-S1329, Inserm, université de Strasbourg, Strasbourg, France.

Revue Neurologique

|April 12, 2024

Summary

The C9ORF72 gene mutation causes amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia (FTD). This review details C9ORF72

Keywords:

Amyotrophic lateral sclerosis C9ORF72 Pathophysiology Phenotype

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Area of Science:

Neuroscience
Genetics
Molecular Biology

Background:

The C9ORF72 gene is the most common genetic cause of monogenic amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia (FTD).
The pathogenic mechanism involves a hexanucleotide repeat expansion (HRE) in the C9ORF72 gene, leading to various downstream cellular dysfunctions.
Understanding the genotype-phenotype correlations and disease mechanisms is crucial for developing effective therapeutic strategies.

Purpose of the Study:

To provide a comprehensive update on recent clinical, biological, and therapeutic advancements related to C9ORF72.
To elucidate the genotype-phenotype correlations in C9ORF72-associated neurological disorders.
To explore the molecular mechanisms underlying neuronal death in C9ORF72-related diseases and potential therapeutic avenues.

Main Methods:

Literature review of recent studies on C9ORF72 gene mutations.
Analysis of clinical data, genetic findings, and biological mechanisms.
Synthesis of current understanding of genotype-phenotype relationships and therapeutic strategies.

Main Results:

The C9ORF72 HRE is associated with a spectrum of neurological phenotypes beyond classical ALS and FTD.
Detailed insights into the molecular pathways contributing to neurodegeneration in C9ORF72 carriers.
Emerging therapeutic strategies targeting the C9ORF72 mutation and its consequences.

Conclusions:

C9ORF72 hexanucleotide repeat expansions represent a significant genetic factor in neurodegenerative diseases.
Further research is needed to fully understand the diverse clinical presentations and underlying pathobiology.
Therapeutic interventions targeting C9ORF72 hold promise for patients with these devastating neurological conditions.