Blood Flow to the Spleen is Altered in a Mouse Model of Spinal Muscular Atrophy

J Neuromuscul Dis. 2020;7(3):315-322. doi: 10.3233/JND-200493.


Spinal muscular atrophy (SMA) is a neuromuscular disorder affecting young children. While pre-clinical models of SMA show small spleens, the same is not true in humans. Here, we show by doppler ultrasonography decreased splenic blood flow in Smn2B/- mice. Further, AAV9-SMN gene therapy does not rescue the distal ear and tail necrosis nor the spleen size in these mice, suggesting that the latter may be linked to a cardiovascular defect. Absence of smaller spleens in human patients is likely due to differences in presentation of defects in SMA between pre-clinical mouse models and human patients, particularly the susceptibility to cardiovascular issues.

Keywords: Immune system; blood flow; mouse models; perfusion; vasculature.

Publication types

  • Letter

MeSH terms

  • Animals
  • Disease Models, Animal*
  • Genetic Therapy
  • Genetic Vectors
  • Mice
  • Mice, Transgenic
  • Muscular Atrophy, Spinal* / pathology
  • Muscular Atrophy, Spinal* / physiopathology
  • Muscular Atrophy, Spinal* / therapy
  • Regional Blood Flow / physiology*
  • Spleen / blood supply*
  • Spleen / diagnostic imaging
  • Survival of Motor Neuron 2 Protein
  • Ultrasonography, Doppler


  • SMN2 protein, mouse
  • Survival of Motor Neuron 2 Protein