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He is five years old now. It has been four years since his accident.
While other boys his age run, and play and pretend to be a superhero, police officer or fireman, Jesse sits, his small body involuntary twisting, his back tensing, his arms outstretched. He still cannot walk although he is learning to crawl.
In this paper, published in the Journal of Neuroscience October 2016, Pedro Gonzalez-Alegre and his collaborators tested a hypothesis that cellular stress induced in the mouse brain will cause torsinA malfunction.
Although the mice under such stress did not show motor dysfunction, the investigators found several changes in brain metabolism, especially involving calcium. They uncovered an interaction between DYT1 genotype and calcium dynamics in neurons.
The Dystonia Patient Care Package was made possible thanks to the Allergan International Foundation.
DMRF Scientific Director Dr. Mahlon DeLong has made pioneering discoveries in the neuroscience of movement and movement disorders that contributed greatly to the resurgence of functional stereotaxic surgery for these disorders. His long-time leadership at the DMRF has been transformational and inspired many in the dystonia field.