Childhood spinal muscular atrophy and stem cell research: Is cellular replacement therapy the answer? (Review).

Childhood spinal muscular atrophy (SMA) is an autosomal disorder caused by mutations in the survival motor neuron (SMN) gene. Although SMN is a ubiquitously expressed protein, mutations in SMN specifically cause the targeted deterioration of α-motor neurones of the spinal cord. This results in the progressive wasting of the voluntary muscles of the limbs and trunk. Although there is currently no treatment or cure for SMA, several lines of investigation are underway. These include a) screens for small compounds that modulate disease phenotype, b) gene therapy and c) stem cell therapy. In this review, we discuss the current state of stem cell research, concentrating on recent advances and highlighting areas where more research is needed. We also discuss the implications of this research for SMA.