JNP Podcasts

Case Studies in Neuroscience: Neuropathology and diaphragm dysfunction in ventilatory failure from late-onset Pompe disease

October 29, 2021

What is Pompe disease? What are the current treatment options and their limitations, such as enzyme replacement therapy?  What insights can you gain in animal models, and how similar is the disease progression in the mouse vs the human patient? In this podcast authors Dr. Dave Fuller and Dr. Barbara Smith, of the University of Florida, discuss their recently published manuscript with Editor in Chief Prof. Nino Ramirez. This case study offered a unique opportunity to investigate longitudinal changes in phrenic neurophysiology in an individual with severe, ventilator-dependent, late-onset Pompe disease. Additional diaphragm and neural tissue histology upon autopsy confirmed significant neuromuscular degeneration, and it provided novel insights regarding rostral to caudal variability in neuropathology. These findings suggest that a successful treatment approach for ventilator-dependent Pompe disease should target the central nervous system, in addition to skeletal muscle.

#Neuroscience #JNPPodcastSeries #JNeurophysiol 

David D. Fuller, Jorge A. Trejo-Lopez, Anthony T. Yachnis, Michael D. Sunshine, Sabhya Rana, Victoria E. Bindi, Barry J. Byrne, and Barbara K. Smith


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