Is spinal muscular atrophy a disease of the motor neurons only: Pathogenesis and therapeutic implications?

Chiara Simone, Agnese Ramirez, Monica Bucchia, Paola Rinchetti, Hardy Rideout, Dimitra Papadimitriou, Diane B. Re, Stefania Corti

Research output: Contribution to journalArticle

Abstract

Spinal muscular atrophy (SMA) is a genetic neurological disease that causes infant mortality; no effective therapies are currently available. SMA is due to homozygous mutations and/or deletions in the survival motor neuron 1 gene and subsequent reduction of the SMN protein, leading to the death of motor neurons. However, there is increasing evidence that in addition to motor neurons, other cell types are contributing to SMA pathology. In this review, we will discuss the involvement of non-motor neuronal cells, located both inside and outside the central nervous system, in disease onset and progression. Even if SMN restoration in motor neurons is needed, it has been shown that optimal phenotypic amelioration in animal models of SMA requires a more widespread SMN correction. It has been demonstrated that non-motor neuronal cells are also involved in disease pathogenesis and could have important therapeutic implications. For these reasons it will be crucial to take this evidence into account for the clinical translation of the novel therapeutic approaches.

Original languageEnglish
Pages (from-to)1003-1020
Number of pages18
JournalCellular and Molecular Life Sciences
Volume73
Issue number5
DOIs
Publication statusPublished - Mar 1 2016

Keywords

  • Central nervous system
  • Pathogenesis
  • Spinal muscular atrophy
  • Therapy

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology
  • Molecular Medicine
  • Pharmacology
  • Cellular and Molecular Neuroscience

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