Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging
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 p...
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| Format: | Article |
| Language: | English |
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Elsevier
2011-05-01
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| Series: | Neurobiology of Disease |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S096999611000344X |
| _version_ | 1830276245968912384 |
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| author | Martin Niethammer Maren Carbon Miklos Argyelan David Eidelberg |
| author_facet | Martin Niethammer Maren Carbon Miklos Argyelan David Eidelberg |
| author_sort | Martin Niethammer |
| collection | DOAJ |
| description | 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”. |
| first_indexed | 2024-12-19T00:41:15Z |
| format | Article |
| id | doaj.art-0ee66e567f4945748d2f2bcbf2bb48c8 |
| institution | Directory Open Access Journal |
| issn | 1095-953X |
| language | English |
| last_indexed | 2024-12-19T00:41:15Z |
| publishDate | 2011-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Neurobiology of Disease |
| spelling | doaj.art-0ee66e567f4945748d2f2bcbf2bb48c82022-12-21T20:44:30ZengElsevierNeurobiology of Disease1095-953X2011-05-01422202209Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimagingMartin Niethammer0Maren Carbon1Miklos Argyelan2David Eidelberg3The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY 11030, USA; Department of Neurology, North Shore University Hospital, 300 Community Drive, Manhasset, New York, 11030, USA; Department of Medicine, North Shore University Hospital, 300 Community Drive, Manhasset, New York, 11030, USAThe Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY 11030, USA; Department of Neurology, North Shore University Hospital, 300 Community Drive, Manhasset, New York, 11030, USA; Department of Medicine, North Shore University Hospital, 300 Community Drive, Manhasset, New York, 11030, USAThe Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY 11030, USAThe Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY 11030, USA; Department of Neurology, North Shore University Hospital, 300 Community Drive, Manhasset, New York, 11030, USA; Department of Medicine, North Shore University Hospital, 300 Community Drive, Manhasset, New York, 11030, USA; Corresponding author. The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY 11030, USA. Fax: +1 516 562 1008.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”.http://www.sciencedirect.com/science/article/pii/S096999611000344XDystoniaDYT1DYT6Brain networksMotor activationImaging marker |
| spellingShingle | Martin Niethammer Maren Carbon Miklos Argyelan David Eidelberg Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging Neurobiology of Disease Dystonia DYT1 DYT6 Brain networks Motor activation Imaging marker |
| title | Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging |
| title_full | Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging |
| title_fullStr | Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging |
| title_full_unstemmed | Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging |
| title_short | Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging |
| title_sort | hereditary dystonia as a neurodevelopmental circuit disorder evidence from neuroimaging |
| topic | Dystonia DYT1 DYT6 Brain networks Motor activation Imaging marker |
| url | http://www.sciencedirect.com/science/article/pii/S096999611000344X |
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