New Target For Dystonia Therapy

New Target For Dystonia Therapy

Dystonia—when someone’s muscles contract uncontrollably—is the third most common movement disorder (after Parkinson’s and essential tremor), affecting about 250,000 Americans. Research and treatment for the most common inherited form of dystonia, called DYT1, has focused mainly on the basal ganglia region of the brain. But new animal research by Einstein scientists implicates a different part of the brainthe cerebellumas the site of the problem. The study, published in the February 15 online issue of eLife, was led by Kamran Khodakhah, Ph.D., professor and chair of the Dominick P. Purpura Department of Neuroscience and the Harold and Muriel Block Chair in Neuroscience. He and his colleagues made their discovery after generating the first mouse model of DYT1 to exhibit the overt symptoms of dystonia seen in patients. Previous research in Dr. Khodakhah’s lab has shown that severing the link between the cerebellum and the basal ganglia might be an effective way to treat cerebellar-induced dystonias.