Disruption of Natural Motion Perception in Dystonia Patients with DYT1 Mutation

Wataru Sako¹, An Vo¹, Aziz M. Ulug¹, David Eidelberg¹

Dystonia is characterized by the involuntary concomitant contraction of agonist and antagonist muscles resulting in repetitive movements and abnormal posture. Causative gene mutation in TOR1A gene is named as DYT1. In contrast to identification of gene mutations, no apparent structural abnormalities of primary dystonia were found in conventional magnetic resonance imaging or autopsy. Nonetheless, novel abnormalities were detected in various types of dystonia by functional imaging including positron emission tomography and diffusion tensor imaging. Speed-dependent motion perception task mainly consists of two types of movement: natural condition; unnatural condition. We applied functional MRI to dystonia patients during motion perception task in order to clarify the possible abnormality in sensory processing.