Cellular Therapy for Spinal Muscular Atrophy: Pearls and Pitfalls

I. Faravelli, S. Corti

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Spinal muscular atrophies (SMAs) include a series of neuromuscular genetic disorders due to mutations in the survival motor neuron 1 (. SMN1) gene. The SMA 5q form represents the most common genetic cause of death during childhood affecting about 1 in 10,000 newborns. There is currently no effective therapy for these patients other than supportive care, even though remarkable progress has been observed during the last decade in the development of molecular and gene therapies. However, SMN-augmentation strategies would not be completely efficacious in already symptomatic patients. Additional therapeutic approaches include stem cell transplantation, which could be exploited to enhance the neuromuscular repair system through both cell replacement and environmental support. In this chapter, we examine the cell-based therapeutic strategies that are currently under development for the treatment of SMAs, discussing state-of-the-art research and challenges toward a safe and effective cure for the disease.

Original languageEnglish
Title of host publicationMolecular and Cellular Therapies for Motor Neuron Diseases
PublisherElsevier Inc.
Pages251-275
Number of pages25
ISBN (Print)9780128022573
DOIs
Publication statusPublished - Jan 19 2017

Keywords

  • Induced pluripotent stem cells
  • Preclinical studies
  • Spinal muscular atrophy
  • Stem-cell
  • Translational therapy

ASJC Scopus subject areas

  • Neuroscience(all)

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    Faravelli, I., & Corti, S. (2017). Cellular Therapy for Spinal Muscular Atrophy: Pearls and Pitfalls. In Molecular and Cellular Therapies for Motor Neuron Diseases (pp. 251-275). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-802257-3.00011-0