Structural, functional and molecular imaging of the brain in primary focal dystonia--a review

Primary focal dystonias form a group of neurological disorders characterized by involuntary, sustained muscle contractions causing twisting movements and abnormal postures. The estimated incidence is 12-25 per 100,000. The pathophysiology is largely unclear but genetic and environmental influences are suspected. Over the last decade neuroimaging techniques have been applied in patients with focal dystonia. Using structural, functional and molecular imaging techniques, abnormalities have been detected mainly in the sensorimotor cortex, basal ganglia and cerebellum. The shared anatomical localisations in different forms of focal dystonia support the hypothesis of a common causative mechanism. The primary defect in focal dystonia is hypothesised in the motor circuit connecting the cortex, basal ganglia, and cerebellum. Imaging techniques have clearly enhanced current knowledge on the pathophysiology of primary focal dystonia and will continue to do so in the future.