Abstract
Functional neuroimaging, such as positron emission tomography (PET) and functional magnetic resonance imaging (fMRI), provides a valuable technique for detecting regional changes in brain metabolic activity associated with human disease. These techniques have been applied in different dystonic disorders including primary generalized dystonia and dopa-responsive dystonia (DRD), as well as focal dystonic syndromes such as torticollis, writer's cramp, and blepharospasm. A common finding is abnormality of the basal ganglia and associated outflow pathways to sensorimotor cortex and other regions involved with motor performance. Other recent imaging research has utilized diffusion-based MRI techniques to localize distinct microstructural abnormalities in dystonia patients and gene carriers. This presentation will focus on an integrated approach to understanding the pathophysiology of this genetic and biochemically diverse disorder.
Publication types
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Comparative Study
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Anisotropy
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Basal Ganglia / abnormalities
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Blepharospasm / pathology
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Carbon Radioisotopes / metabolism
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Case-Control Studies
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Dihydroxyphenylalanine / therapeutic use
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Dopamine Antagonists / metabolism
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Dystonia / diagnostic imaging
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Dystonia / drug therapy
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Dystonia / genetics
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Dystonia / metabolism
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Dystonia / pathology*
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Dystonic Disorders / pathology
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Globus Pallidus / diagnostic imaging
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Globus Pallidus / metabolism
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Heterozygote
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Humans
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Magnetic Resonance Imaging*
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Molecular Chaperones / genetics
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Motor Cortex / diagnostic imaging
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Motor Cortex / metabolism
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Positron-Emission Tomography*
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Prospective Studies
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Putamen / diagnostic imaging
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Putamen / metabolism
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Raclopride / metabolism
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Receptors, Dopamine / metabolism
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Torticollis / pathology
Substances
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Carbon Radioisotopes
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Dopamine Antagonists
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Molecular Chaperones
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Receptors, Dopamine
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TOR1A protein, human
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Raclopride
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Dihydroxyphenylalanine