Related Experiment Video
Updated: Jul 14, 2025
08:59
Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
Published on: July 16, 2021
2.6K
[Genetics of amyotrophic lateral sclerosis]
Sacha Weber1, Philippe Corcia2, Fausto Viader3
1Service de neurologie et service de génétique, CHU Côte de Nacre, université de Caen Normandie, Caen, France.
La Revue Du Praticien
|October 5, 2023
Summary
Genetic variants are found in a significant portion of amyotrophic lateral sclerosis (ALS) cases, even without a family history. Genetic investigation is now recommended for all ALS patients to understand disease mechanisms and explore new therapies.
Area of Science:
- Neurogenetics
- Molecular Biology
Context:
- Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease.
- Genetic factors play a significant role in ALS etiology, affecting both familial and sporadic cases.
Purpose:
- To summarize the current understanding of the genetic basis of ALS.
- To highlight the importance of genetic investigations in ALS diagnosis and management.
Summary:
- Approximately 10-15% of ALS patients have a family history, with pathogenic genetic variants identified in 2/3 of these and 10% of those without family history.
- Key genes implicated include C9orf72, SOD1, TARDBP, and FUS, with genetic ALS typically inherited in an autosomal dominant pattern.
- Advances in genetic knowledge have improved understanding of ALS pathophysiology and opened new therapeutic avenues.
Impact:
- Recommends genetic investigation for all ALS patients, regardless of family history.
- Facilitates identification of at-risk relatives for genetic testing.
- Supports personalized medicine approaches and the development of targeted ALS therapies.
Keywords:
Amyotrophic Lateral Sclerosis
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