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Abstract #1163

Disruption of Natural Motion Perception in Dystonia Patients with DYT1 Mutation

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

1Feinstein Institute for Medical Research, Manhasset, NY, United States

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.

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Keywords

abnormal abnormalities according acknowledgments activated activation activations activity actual additionally almost always analyses analyzed apparent autopsy ball black body brain brains carrying causative cerebellum channel characterized coil color concomitant condition conditions conducted consists constant contraction contrast control controls corrected cortex created curvature curved degrees dependent depends despite detected diagnosis diffusion discover disease displaying disruption elliptic emission employed even excessive extent faster feat finding functional gene general governed grant head healthy height hyper important inappropriate included indicate individual inhibition instantaneous institute interpreted investigated involuntary involved just known larger lead limb linear loss manifesting matrix medical might model motion motor move movement movements moves muscles mutation mutations natl natural neural nonetheless notion novel observe observing part path patients perception positron posture primary processing produces protocol radius represents resolution scale scanner slices software speed straight strategy structural studied subject subjects suggest summarized support supported symptoms task threshold thresholded tomography trajectory treatment unnatural velocity whole