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Neuropathology of cervical dystonia.
- Source :
-
Experimental neurology [Exp Neurol] 2013 Mar; Vol. 241, pp. 95-104. Date of Electronic Publication: 2012 Nov 27. - Publication Year :
- 2013
-
Abstract
- The aim of this study was to search for neuropathological changes in postmortem brain tissue of individuals with cervical dystonia (CD). Multiple regions of formalin-preserved brains were collected from patients with CD and controls and examined with an extensive battery of histopathological stains in a two-stage study design. In stage one, 4 CD brains underwent a broad screening neuropathological examination. In stage two, these 4 CD brains were combined with 2 additional CD brains, and the subjective findings were quantified and compared to 16 age-matched controls. The initial subjective neuropathological assessment revealed only two regions with relatively consistent changes. The substantia nigra had frequent ubiquitin-positive intranuclear inclusions known as Marinesco bodies. Additionally, the cerebellum showed patchy loss of Purkinje cells, areas of focal gliosis and torpedo bodies. Other brain regions showed minor or inconsistent changes. In the second stage of the analysis, quantitative studies failed to reveal significant differences in the numbers of Marinesco bodies in CD versus controls, but confirmed a significantly lower Purkinje cell density in CD. Molecular investigations revealed 4 of the CD cases and 2 controls to harbor sequence variants in non-coding regions of THAP1, and these cases had lower Purkinje cell densities regardless of whether they had CD. The findings suggest that subtle neuropathological changes such as lower Purkinje cell density may be found in primary CD when relevant brain regions are investigated with appropriate methods.<br /> (Copyright © 2012 Elsevier Inc. All rights reserved.)
- Subjects :
- Adult
Aged
Aged, 80 and over
Apoptosis Regulatory Proteins genetics
Brain metabolism
DNA-Binding Proteins genetics
Female
Humans
Intranuclear Inclusion Bodies metabolism
Intranuclear Inclusion Bodies pathology
Lewy Bodies pathology
Logistic Models
Male
Middle Aged
Nerve Tissue Proteins metabolism
Nuclear Proteins genetics
Purkinje Cells metabolism
Purkinje Cells pathology
Torticollis genetics
Ubiquitin metabolism
Young Adult
Brain pathology
Torticollis pathology
Subjects
Details
- Language :
- English
- ISSN :
- 1090-2430
- Volume :
- 241
- Database :
- MEDLINE
- Journal :
- Experimental neurology
- Publication Type :
- Academic Journal
- Accession number :
- 23195594
- Full Text :
- https://doi.org/10.1016/j.expneurol.2012.11.019