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Related Experiment Video

Updated: Feb 14, 2026

Paradigms of Lower Extremity Electrical Stimulation Training After Spinal Cord Injury

Paradigms of Lower Extremity Electrical Stimulation Training After Spinal Cord Injury

Published on: February 1, 2018

Spinal muscular atrophy.

Eveline S Arnold¹, Kenneth H Fischbeck¹

¹Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States.

Handbook of Clinical Neurology

|February 27, 2018

Summary

This summary is machine-generated.

Spinal muscular atrophy (SMA) is caused by SMN1 gene mutations, with severity linked to SMN2 gene copies. Therapies aim to boost SMN protein levels, with nusinersen already approved.

Keywords:

Kugelberg–Welander disease RNA splicing SMN1 gene SMN2 gene Werdnig–Hoffmann disease gene therapy motor neuron oligonucleotide therapy spinal muscular atrophy

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Area of Science:

Genetics and Molecular Biology
Neurodegenerative Diseases
Drug Discovery

Background:

Spinal muscular atrophy (SMA) is an autosomal-recessive neuromuscular disorder.
SMA is caused by mutations in the Survival Motor Neuron 1 (SMN1) gene.
Clinical severity in SMA correlates with the number of copies of the SMN2 gene.

Purpose of the Study:

To elucidate the disease mechanism of SMA.
To identify therapeutic targets for SMA treatment.
To review current therapeutic strategies for increasing SMN levels.

Main Methods:

Utilized cell culture models.
Employed animal models of SMA.
Reviewed studies on small molecules, oligonucleotides, and gene replacement therapies.

Main Results:

Established the critical role of SMN protein in spliceosome assembly and mRNA transport.
Demonstrated the utility of cell and animal models in defining disease mechanisms.
Identified strategies to increase SMN levels as a primary therapeutic approach.

Conclusions:

Therapeutic interventions for SMA focus on increasing SMN protein levels.
Oligonucleotide therapy (nusinersen) has been approved for SMA treatment.
Ongoing research is evaluating other agents for SMA management.