Spinal muscular atrophy with pontocerebellar hypoplasia

Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH) or pontocerebellar hypoplasia type 1 (PCH1) - a rare infantile disorder resulting from the loss of anterior horn cells in the spinal cord. Its exact cause is unknown but it has been associated with a nonsense mutation in the vaccinia-related kinase 1 gene (VRK1).[1]

References

  1. ^ Renbaum, P.; Kellerman, E.; Jaron, R.; Geiger, D.; Segel, R.; Lee, M.; King, M. C.; Levy-Lahad, E. (2009). "Spinal Muscular Atrophy with Pontocerebellar Hypoplasia is Caused by a Mutation in the VRK1 Gene". The American Journal of Human Genetics 85 (2): 281. doi:10.1016/j.ajhg.2009.07.006.  edit