![Exploring Dystonia's Genetic Cause]()
The neurological disorder dystonia causes muscles to contract involuntarily. It is the third most common movement disorder (after Parkinson’s and essential tremor) and affects about 250,000 Americans. Einstein’s Kamran Khodakhah, Ph.D. and colleagues developed a mouse model of DYT1, the most common inherited form of dystonia that replicates the neurological symptoms of patients. Using this mouse model, they determined that dystonia is caused primarily by dysfunction of the brain’s cerebellum. The National Institute of Neurological Disorders and Stroke has awarded Dr. Khodakhah a five-year, $2.3 million grant to use his mouse model to determine at the cellular and molecular level how mutations associated with DYT1 cause dystonia. Dr. Khodakhah is professor and chair of the Dominick P. Purpura Department of Neuroscience and the Florence and Irving Rubinstein Chair in Neuroscience. (1R01NS105470-01)
Posted on: Friday, February 02, 2018