Synaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot-Marie-Tooth Type 2d.

Emily L SpauldingJames N SleighKathryn H MorelliMartin J PinterRobert W BurgessKevin L Seburn

Published in: The Journal of neuroscience : the official journal of the Society for Neuroscience (2016)

We have uncovered a previously unrecognized aspect of axonal Charcot-Marie-Tooth disease in mouse models of CMT2D. Synaptic dysfunction contributes to impaired neuromuscular performance and disease progression. This suggests that drugs which improve synaptic efficacy at the NMJ could be considered in treating the pathophysiology of CMT2D patients.

Keyphrases

mouse model
end stage renal disease
newly diagnosed
prefrontal cortex
ejection fraction
traumatic brain injury
peritoneal dialysis
spinal cord injury
oxidative stress
single molecule
optical coherence tomography
patient reported