The Relationship between Body Composition, Fatty Acid Metabolism and Diet in Spinal Muscular Atrophy

Katherine S Watson, Imane Boukhloufi,, Melissa Bowerman* (Corresponding Author), Simon H Parson* (Corresponding Author)

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)
2 Downloads (Pure)


Spinal muscular atrophy (SMA) is an autosomal recessive condition that results in pathological deficiency of the survival motor neuron (SMN) protein. SMA most frequently presents itself within the first few months of life and is characterized by progressive muscle weakness. As a neuromuscular condition, it prominently affects spinal cord motor neurons and the skeletal muscle they innervate. However, over the past few decades, the SMA phenotype has expanded to include pathologies outside of the neuromuscular system. The current therapeutic SMA landscape is at a turning point, whereby a holistic multi-systemic approach to the understanding of disease pathophysiology is at the forefront of fundamental research and translational endeavours. In particular, there has recently been a renewed interest in body composition and metabolism in SMA patients, specifically that of fatty acids. Indeed, there is increasing evidence of aberrant fat distribution and fatty acid metabolism dysfunction in SMA patients and animal models. This review will explore fatty acid metabolic defects in SMA and discuss how dietary interventions could potentially be used to modulate and reduce the adverse health impacts of these perturbations in
SMA patients
Original languageEnglish
Number of pages15
JournalBrain Sciences
Issue number2
Publication statusPublished - 20 Jan 2021


  • spinal muscular atrophy
  • survival motor neuron
  • Fatty acid metabolism
  • nutrition
  • diet
  • Survival motor neuron
  • Diet
  • Nutrition
  • Spinal muscular atrophy
  • fatty acid metabolism


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