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Abstract #4054

DYT1 Dystonia of Mice and Men

Aziz M. Ulug1, An Vo1, Miklos Argyelan1, Wynne K. Schiffer1, Lauren Tanabe2, William T. Dauer3, David Eidelberg1

1The Feinstein Institute for Medical Research, Manhasset, NY, United States; 2Columbia UNiversity, New York, United States; 3University of Michigan Medical School, Ann Arbor, MI, United States


Dystonia is a neurological disease characterized by sustained involuntary muscle contractions. Eight DYT1 heterozygous mice and six littermate controls using invivo MRI, FDG microPET and exvivo MRDTI were studied. We compared changes in mouse genecopy of DYT1 dystonia with their wild type littermate controls. We found that DYT1 mice exhibit metabolic and FA abnormalities that resemble the DYT1 patients. The correlation between striatum and cerebellum metabolic activity and the correlation between the metabolic activity and the FA abnormalities are also shown.