Developmental Aspects and Pathological Findings in Spinal Muscular Atrophy

M. J. Pérez-García, L. Kong, C. J. Sumner, E. F. Tizzano

Research output: Chapter in Book/Report/Conference proceedingChapter


The neuropathology of spinal muscular atrophy (SMA) has been studied for over a century, yet as novel therapeutics transition to clinical trials in SMA patients, there is renewed interest in applying modern techniques to further characterize the timing and extent of cellular and tissue pathology. Several studies suggest SMA pathological alterations begin in utero disrupting normal development of the neuromuscular system. The chapter begins with a brief review of normal neuromuscular development. It then discusses the pathological abnormalities of the various components of the motor unit including the motor neuron soma, axon, neuromuscular junction synapse, and muscle highlighting described prenatal and postnatal changes in SMA patients.

Original languageEnglish (US)
Title of host publicationSpinal Muscular Atrophy
Subtitle of host publicationDisease Mechanisms and Therapy
PublisherElsevier Inc.
Number of pages22
ISBN (Electronic)9780128036860
ISBN (Print)9780128036853
StatePublished - Jan 1 2017


  • Axon
  • Human development
  • Motor neuron
  • Muscle
  • Myofibers
  • Neuromuscular junction
  • Neuropathology
  • Programmed cell death
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Medicine(all)
  • Neuroscience(all)


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