Deguise, Marc-OlivierBeauvais, ArianeSchneider, Bernard L.Kothary, Rashmi2021-08-282021-08-282021-08-282020-01-0110.3233/JND-200493https://infoscience.epfl.ch/handle/20.500.14299/180965WOS:000685106600012Spinal 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 Smn(2B/-) 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.Clinical NeurologyNeurosciencesNeurosciences & Neurologyimmune systemperfusionblood flowvasculaturemouse modelscardiac defectsrestorationphenotyperescuemicetext::journal::journal article::research article