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Updated: Mar 3, 2026
08:59
Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
Published on: July 16, 2021
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Genetics of amyotrophic lateral sclerosis
P Corcia1, P Couratier2, H Blasco3
1Centre de Ressources et de Compétences SLA, CHU Tours, 4 boulevard Tonnellé, 37000 Tours, France; Inserm Unit UMR U930, 37000 Tours, France; Fédération des Centres de Ressources et de Compétences de Tours et Limoges, LITORALS, France.
Revue Neurologique
|April 29, 2017
Summary
Genetic factors are key in amyotrophic lateral sclerosis (ALS), a motor neuron disease. This review updates knowledge on genes causing familial ALS (fALS) and contributing to susceptibility.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder affecting motor neurons.
- While the exact pathophysiology remains unclear, genetic factors are definitively implicated in ALS.
- Familial ALS (fALS) represents 10-20% of all ALS cases.
Purpose of the Study:
- To provide an updated review of the genetic landscape of ALS.
- To focus on major causative and susceptibility genetic factors in ALS.
- To consolidate current understanding of ALS genetics.
Main Methods:
- Literature review of genetic studies in ALS.
- Analysis of identified genes associated with familial ALS (fALS).
- Synthesis of information on both causative mutations and susceptibility genes.
Main Results:
- Over 20 genes have been identified since the discovery of the SOD1 gene.
- Four specific genes account for more than 50% of familial ALS cases.
- The review consolidates information on a growing number of ALS-associated genes.
Conclusions:
- Genetic factors play a critical role in the etiology of ALS.
- Continued research into ALS genetics is essential for understanding disease mechanisms.
- Identifying genetic factors aids in understanding disease risk and potential therapeutic targets.
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