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Lethal Alleles

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Related Experiment Video

Updated: Mar 14, 2026

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

[Causative Genes for Amyotrophic Lateral Sclerosis].

Hirofumi Maruyama¹, Hiroyuki Morino, Hideshi Kawakami

¹Department of Clinical Neuroscience & Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences.

Brain and Nerve = Shinkei Kenkyu No Shinpo

|September 27, 2016

Summary

Researchers identified over 20 genes causing amyotrophic lateral sclerosis (ALS), with new gene discoveries continually advancing understanding of its pathology. Genetic counseling is advised for diagnosis.

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Area of Science:

Neuroscience
Genetics
Molecular Biology

Background:

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease.
Over 20 causative genes for ALS have been identified to date.
New gene discoveries are crucial for understanding ALS pathogenesis.

Purpose of the Study:

To review the known causative genes for ALS.
To discuss the pathophysiology and disease characteristics linked to these genes.
To highlight the importance of genetic counseling in ALS diagnosis.

Main Methods:

Literature review of reported causative genes for ALS.
Analysis of the functional roles of gene products in ALS pathology.
Correlation of genetic findings with clinical disease characteristics.

Main Results:

Approximately 20 genes are associated with familial and sporadic ALS.
Products of these genes are implicated in various cellular processes relevant to neurodegeneration.
Distinct genetic mutations correlate with different clinical presentations and progression rates.

Conclusions:

The genetic landscape of ALS is complex and expanding.
Understanding gene-specific pathophysiology aids in characterizing ALS subtypes.
Genetic testing and counseling are essential components of modern ALS management.