Clinicn Investigator, Assc Prf Neurology, Mass General Research Institute

Associate Professor of Neurology Harvard Medical School

Neurologist Neurology, Massachusetts General Hospital

MD State University of New York, Stony Brook School of Medicine And Biomedical Sciences 1995

anti-dyskinesia agents; deep brain stimulation; dysphonia; dystonia; dystonia musculorum deformans; dystonic disorders; globus pallidus; gtp cyclohydrolase; lewy bodies; molecular chaperones The Dystonia Center also serves as a gateway for those patients who are interested in participating in research. I am the Principal Investigator of the Clinical Core of an NIH-funded P50 grant, Molecular Etiology of Early Onset Torsion Dystonia. The P50 supports: (1) systematic clinical evaluation at each visit, as part of a longitudinal study of the natural history of dystonia; (2) genetic research regarding the role of single nucleotide polymorphisms in the Tor1A gene in the development of focal dystonias; (3) collection of families with dystonia, obtaining both DNA and systematic clinical examination data, to help identify as yet unidentified dystonia causing genes and (4) fMRI studies to evaluate white matter microstructure in those with focal dystonia. The genetic studies are part of an on-going collaboration with Dr. Laurie Ozelius at Mount Sinai School of Medicine, who has NIH funding for this research. The fMRI studies are part of an on-going collaboration with Dr. Anne Blood, of the Department of Psychiatry at MGH, who has NIH funding for this research.