期刊
EXPERIMENTAL NEUROLOGY
卷 241, 期 -, 页码 95-104出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.expneurol.2012.11.019
关键词
Spasmodic torticollis; Autopsy study; Marinesco bodies; THAP1; DYT6
资金
- National Institute of Neurological Disorders and Stroke (NINDS)
- Office of Rare Diseases Research (ORDR) in the National Center for Advancing Translational Sciences (NCATS) of the National Institutes of Health (NIH) [R01 NS040470, R01 NS069936, R01 NS033592, U54 NS065701]
- Emory NINDS Neuroscience Core Facilities grant [P30 NS055077]
- University of Tennessee Health Science Center Neuroscience Institute
- Dystonia Medical Research Foundation
- NICHD Brain and Tissue Bank for Developmental Disorders at the University of Maryland in Baltimore MD [HHSN275200900011C, N01-HD-9-0011]
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. (c) 2012 Elsevier Inc. All rights reserved.
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