New insights into the pathogenesis of spinal muscular atrophy

@article{Ito2011NewII,
  title={New insights into the pathogenesis of spinal muscular atrophy},
  author={Yasushi Ito and Noriyuki Shibata and Kensuke Saito and Motohiro Kobayashi and Makiko Ōsawa},
  journal={Brain and Development},
  year={2011},
  volume={33},
  pages={321-331}
}
To clarify the pathomechanism of spinal muscular atrophy (SMA) with mutations in the gene for survival motor neuron (SMN) protein, postmortem neuropathological analyses were performed on spinal cords obtained at autopsy from 2 fetuses with SMA, 5 infants and a low teenager with SMA type 1, and a higher teenager with SMA type 2; the diagnosis of all of them was confirmed clinically and genetically. Histopathologically, it was noted that lower motor neurons (LMNs) in the SMA cases showed immature… CONTINUE READING
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