Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review

J Neuromuscul Dis. 2023;10(4):493-503. doi: 10.3233/JND-221567.


Background: 5q Spinal Muscular Atrophy (SMA) is a prototypical lower motor neuron disorder. However, the characteristic early motor impairment raises the question on the scope of brain involvement with implications for further investigations on the brain as a potential therapeutic target.

Objective: To review changes across the SMA clinical spectrum reported on brain magnetic resonance imaging (MRI).

Methods: We conducted a scoping review of existing literature on PubMed and EMBASE. Two reviewers searched and retrieved relevant articles on magnetic resonance brain imaging in individuals with SMA censoring to April 2022. Full-text articles published in peer-reviewed journals or abstracts accepted to conferences in English and French were included.

Results: Twelve articles were identified describing a total of 39 patients [age range: 11 days to 41 years old, type 0 (n = 5), type 1 (n = 4), type 2 (n = 2), type 3 (n = 22), type 4 (n = 6)]. All reported structural changes and did not explore other MRI modalities. In individuals with infantile onset SMA, cortical and subcortical brain abnormalities in white matter, basal ganglia, thalamus, hippocampus, and high intensity areas around lateral ventricles and thalami were reported over time. In individuals with later-onset SMA, reduced cerebellar and lobular volume were observed as well as increased grey matter density in motor areas.

Conclusions: Limited data on brain imaging in SMA highlights both cortical and subcortical involvement in SMA, supporting the hypothesis that changes are not restricted to lower motor neuron pathways. Further studies are needed to determine the extent and prevalence of structural and functional brain changes across SMA types.

Keywords: MRI; Spinal muscular atrophy; survival motor neuron.

Publication types

  • Review

MeSH terms

  • Brain / diagnostic imaging
  • Brain / pathology
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Motor Neuron Disease*
  • Muscular Atrophy, Spinal* / diagnostic imaging
  • Muscular Atrophy, Spinal* / pathology
  • Spinal Muscular Atrophies of Childhood* / drug therapy