12/19/2013-  Spinal muscular atrophy: development and implementation of potential treatments by Drs. David Arnold and Arthur Burghes. Ann Neurol. 2013 Sep;74(3):348-62. doi: 10.1002/ana.23995. This podcast is a brief discussion of the article in Annals in Neurology. The article discusses the rapid progress in the understanding of recessive proximal spinal muscular atrophy and how this is leading to exciting potential treatments of the disease. Spinal muscular atrophy is caused by loss of the survival motor neuron 1 (SMN1) gene and reduced levels of SMN protein. The critical downstream targets of SMN deficiency that result in motor neuron loss are not known. However, increasing SMN levels has a marked impact in mouse models, and these therapeutics are rapidly moving toward clinical trials. Promising preclinical therapies, the varying degree of impact on the mouse models, and potential measures of treatment effect are reviewed. One key issue discussed is the variable outcome of increasing SMN at different stages of disease progression.