Oct. 11, 2012 study by scientists from the Motor Neuron Center
at Columbia University Medical Center (CUMC) suggests that
spinal muscular atrophy (SMA), a genetic neuromuscular disease
in infants and children, results primarily from motor circuit
dysfunction, not motor neuron or muscle cell dysfunction, as is
commonly thought. In a second study, the researchers identified
the molecular pathway in SMA that leads to problems with motor
function. Findings from the studies, conducted in fruit fly,
zebrafish and mouse models of SMA, could lead to therapies for
this debilitating and often fatal neuromuscular disease. Both
studies were published October 11in the online edition of the
journal Cell. "Scientists call SMA a motor neuron disease, and
there is post-mortem evidence that it does cause motor neurons
to die," said Brian McCabe, PhD, assistant professor of
pathology and cell biology and of neuroscience in the Motor
Neuron Center, who led the first study. "However, it was not
clear whether the death of motor ne