Anneliese Schaefer, JD, PhD
Research Associate Professor of Neurology
Pathological changes of axons, motor units and neuromuscular junctions in motor neuron disease Read More
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Pathological changes of axons, motor units and neuromuscular junctions in motor neuron disease
Patients with ALS or spinal muscular atrophy (SMA) experience muscle wasting and paralysis because spinal motor neurons degenerate. I am interested in the mechanisms of motor neuron degeneration as they are revealed through high resolution imaging of axons and neuromuscular junctions in mouse models of these diseases. For example, time-lapse imaging of a superficial muscle in living animals has allowed multiple views of marked changes in single neuromuscular junctions over time. These observations revealed that the first outward sign of neurodegeneration in ALS model mice is fragmentation of preterminal branches. Additionally, confocal reconstructions of individual motor units showed that a subpopulation of motor units appears refractory to degeneration, with virtually no sign of degeneration. These studies show the power of imaging in animal models to elucidate the cellular course of disease.
Hope Center Affiliations
- Executive Director, Hope Center
- Member, Hope Center Steering Committee
- Axon Injury & Repair
- Co-organizer, 2012/2013 "Brain Networks and Disease/Connectome" mini-series
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