Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation

To determine whether reduced striatal D-2 receptor binding reported in patients with idiopathic torsion dystonia is associated with the genotype, the authors used PET and [C-11]-raclopride to assess non-manifesting carriers of the DYT1 mutation. D-2 receptor binding was reduced by approximately 15% in caudate and putamen (p < 0.005). These results suggest that striatal D-2 binding reductions are a trait feature of the DYT1 genotype.