Journal
NEUROBIOLOGY OF DISEASE
Volume 42, Issue 2, Pages 202-209Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.nbd.2010.10.010
Keywords
Dystonia; DYT1; DYT6; Brain networks; Motor activation; Imaging marker; Neurodevelopmental; Positron emission tomography
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Funding
- National Institutes of Health (NIH NINDS) [R01 047668]
- Bachmann-Strauss Dystonia & Parkinson Foundation
- Feinstein Institute for Medical Research General Clinical Research Center (National Centre for Research Resources, NIH) [M01 RR 018535]
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Primary dystonia has traditionally been viewed as a basal ganglia disorder, but recent studies suggest that the cerebellum plays a crucial role in the disease. Primary dystonia is associated with several genotypes. Among those, DYT1 and DYT6 are inherited in autosomal dominant fashion with reduced penetrance. Extensive structural and functional imaging studies have been performed on manifesting and non-manifesting carriers of these mutations. The results suggest that primary dystonia can be viewed as a neurodevelopmental circuit disorder, involving the cortico-striato-pallido-thalamo-cortical and cerebello-thalamo-cortical pathways. Anatomical disruption of the cerebellar outflow is found in non-manifesting and manifesting mutation carriers. and a second downstream disruption in thalamo-cortical projections appears clinically protective in non-manifesting carriers. The microstructural deficits in cerebellar outflow are linked to an abnormally elevated sensorimotor network (NMRP) in dystonia patients. Abnormal expression of this network is reduced by successful treatment with deep brain stimulation. This article is part of a Special Issue entitled Advances in dystonia. (C) 2010 Elsevier Inc. All rights reserved.
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