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Correction to: Validation of a novel western blot assay to monitor patterns and levels of alpha dystroglycan in skeletal muscle of patients with limb girdle muscular dystrophies.

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Related Experiment Video

Updated: Jun 5, 2026

Delivery of Therapeutic Agents Through Intracerebroventricular (ICV) and Intravenous (IV) Injection in Mice
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Therapeutic developments in spinal muscular atrophy.

Douglas M Sproule1, Petra Kaufmann

  • 1Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, Harkness Pavilion, HP-514, 180 Fort Washington Avenue, New York, NY 10032-3791, USA. dsproule@neuro.columbia.edu

Therapeutic Advances in Neurological Disorders
|December 24, 2010
PubMed
Summary

Spinal muscular atrophy (SMA) is a motor neuron disease caused by SMN1 gene mutations. Therapies aim to increase functional SMN protein from the SMN2 gene, offering hope for effective treatments.

Keywords:
clinical trialsgene therapyspinal muscular atrophytreatment

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Intramuscular Injections Along the Motor End Plates: A Minimally Invasive Approach to Shuttle Tracers Directly into Motor Neurons
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Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Spinal muscular atrophy (SMA) is a severe genetic disorder characterized by progressive muscle weakness and atrophy.
  • It results from the loss of motor neurons in the spinal cord due to homozygous mutations in the Survival of Motor Neurons 1 (SMN1) gene.
  • The severity of SMA is influenced by the Survival of Motor Neurons 2 (SMN2) gene, which produces limited amounts of functional SMN protein.

Purpose of the Study:

  • To review current and emerging therapeutic strategies for spinal muscular atrophy.
  • To explore approaches targeting the SMN2 gene to increase full-length SMN protein production.
  • To discuss alternative therapeutic avenues and their potential in SMA treatment.

Main Methods:

  • Review of preclinical research and drug development for SMA.
  • Analysis of strategies aimed at enhancing SMN2 gene function.
  • Exploration of neuroprotective, muscle anabolic, and gene/cell replacement therapies.

Main Results:

  • Several therapeutic strategies are under investigation to increase functional SMN protein levels.
  • In vitro studies show drugs can enhance SMN2 gene function.
  • Advancements in preclinical research and animal models provide a basis for optimism.

Conclusions:

  • Targeting the SMN2 gene represents a key strategy for SMA therapeutic development.
  • Diverse approaches, including gene and cell-based therapies, show promise.
  • Ongoing research offers cautious optimism for the future emergence of effective SMA treatments.