期刊
NEURODEGENERATIVE DISEASES
卷 16, 期 3-4, 页码 273-278出版社
KARGER
DOI: 10.1159/000440863
关键词
THAP1; DYT6; Neuropathology; Isolated dystonia
资金
- American National Institute of Neurological Disorders and Stroke [NS 065701]
- Office of Rare Diseases Research at the National Center for Advancing Translational Sciences, Impact Studentship UCL
- National Institute for Health Research University College London Hospitals Biomedical Research Centre
- Multiple System Atrophy Trust
- CBD Solutions
- Michael J. Fox Foundation
- Reta Lila Weston Institute for Neurological Studies
- Medical Research Council UK
- MRC [G0802760, MR/J004758/1, G1001253, G108/638] Funding Source: UKRI
- Medical Research Council [G0802760, G108/638, G1001253, MR/J004758/1] Funding Source: researchfish
- NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES [U54TR001456] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [U54NS065701] Funding Source: NIH RePORTER
Background: Mutations in the thanatos-associated protein domain containing apoptosis-associated protein 1 gene (THAP1) are responsible for adult-onset isolated dystonia (DYT6). However, no neuropathological studies of genetically proven DYT6 cases have been previously reported. Objective: We report the first detailed neuropathological investigation carried out on two DYT6 brains. Methods: Genetic screening for THAP1 gene mutations using standard Sanger polymerase chain reaction sequencing identified 2 cases, 1 with a known pathogenic mutation and the other with a novel mutation. A detailed neuropathological assessment of the cases was performed. Results: Both DYT6 cases showed no significant neurodegeneration and no specific disease related pathology. Conclusions: No neuropathological features that could be defined as hallmark features of DYT6 dystonia were identified. Our study supports the notion that in isolated dystonia, there is no significant neurodegeneration or morphological lesions that can be identified using routine methods. (C) 2015 S. Karger AG, Basel
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