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Huntington Disease l: Introduction

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Related Experiment Video

Updated: Jun 30, 2026

Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis (ALS)

Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis (ALS)

Published on: March 17, 2012

Chapter 15 Juvenile amyotrophic lateral sclerosis.

Paul Orban¹, Rebecca S Devon, Michael R Hayden

¹Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics and British Columbia Research Institute for Women and Children's Health, University of British Columbia, Vancouver, BC, Canada.

Handbook of Clinical Neurology

|September 24, 2008

Summary

This chapter details juvenile amyotrophic lateral sclerosis (ALS) forms, including ALS2 (ALS2 gene mutations) and ALS4 (SETX gene mutations), and discusses ALS5. It highlights genetic and clinical heterogeneity, aiding differential diagnosis of rare motor neuron diseases.

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Area of Science:

Neurology
Genetics
Molecular Biology

Background:

Juvenile amyotrophic lateral sclerosis (ALS) encompasses genetically defined subtypes with varying clinical presentations and progression rates.
Understanding these subtypes is crucial for accurate diagnosis and management of pediatric motor neuron diseases.

Purpose of the Study:

To provide a comprehensive overview of genetically defined juvenile ALS forms, focusing on ALS2, ALS4, and ALS5.
To discuss the genetic basis, molecular mechanisms, and clinical characteristics of these conditions.
To highlight the diagnostic challenges posed by the heterogeneity of juvenile ALS.

Main Methods:

Review of existing literature and genetic studies on juvenile ALS.
Characterization of mutations in ALS2 (ALS2 gene) and ALS4 (SETX gene).
Genetic linkage analysis for ALS5 to identify associated chromosomal regions.

Main Results:

ALS2 is an autosomal recessive form linked to ALS2 gene mutations, causing loss of function in the alsin protein.
ALS4 is an autosomal dominant form caused by SETX gene mutations, affecting senataxin with potential DNA/RNA helicase activity.
ALS5 is a distinct juvenile ALS form linked to chromosome 15q15.1-q21.1, with the causative gene yet to be identified.

Conclusions:

Juvenile ALS exhibits significant genetic and clinical heterogeneity, complicating diagnosis.
Differential diagnosis requires consideration of other genetic disorders and acquired conditions.
Further research is needed to identify the genetic cause of ALS5 and elucidate the precise roles of alsin and senataxin in motor neuron function.