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Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype
Abstract
Objective To analyze the association of polymorphisms in the tau gene with pathologically confirmed corticobasal degeneration (CBD). Background The authors previously described an extended tau haplotype (H1) that covers the human tau gene and is associated with the development of progressive supranuclear palsy (PSP). The authors now extend this analysis to CBD, a neurodegenerative condition with clinical and neuropathologic similarities to PSP. Like PSP, CBD is associated with accumulation of aggregates containing the 4-repeat isoforms of tau. Because of difficulty in diagnosis of CBD, the authors only analyzed cases with pathologically confirmed CBD. Methods The authors collected 57 unrelated, neuropathologically confirmed cases of CBD. Tau sequencing in these cases failed to show the presence of pathogenic mutations. Polymorphisms that spanned the tau gene were analyzed in all CBD cases and controls. Results Analyzing tau polymorphisms in CBD cases showed that the frequency of H1 and H1/H1 was significantly increased when analyzing all cases and when separating by country of origin. H1 frequency in all CBD cases was 0.921, compared with a control frequency of 0.766 (X(2) = 9.1, p = 0.00255 [1df], OR 3.56 [8.43 > CI 95% > 1.53]). The H1/H1 frequency was also significantly higher at 0.842 compared with 0.596 in age-matched controls (X(2) = 17.42, p = 0.00016, 2df), OR 3.61 [7.05 > CI 95% > 1.85]). Conclusions The CBD tau association described here suggests that PSP and CBD sh…
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“An association of CBD with the H1 haplotype was first reported in a series of 18 cases (16 corticobasal syndrome patients and two autopsy-confirmed CBD cases)15 and subsequently confirmed in a larger autopsy series of 57 cases16.”
From Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy (2015) · cites this paper as [16]
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Metadata
- Authors
- Houlden, H., Baker, M., Morris, H. R., MacDonald, N., Pickering–Brown, S., Adamson, J., Lees, A. J., Rossor, M. N., Quinn, N. P., Kertesz, A., Khan, M. N., Hardy, J., Lantos, P. L., St. George–Hyslop, P., Munoz, D. G., Mann, D., Lang, A. E., Bergeron, C., Bigio, E. H., Litvan, I., Bhatia, K. P., Dickson, D., Wood, N. W., & Hutton, M.
- Affiliations
- St Bartholomew's Hospital (GB)
- From Neurogenetics (Drs. Houlden, Morris, Lees, Rossor, Quinn, Khan, Lantos, and Bhatia), Clinical Neurology and Dementia Research Group, Institute of Neurology, London; Mayo Clinic Jacksonville (Dr. Dickson and M. Baker and J. Adamson), Jacksonville, FL; Department of Gynaecological Oncology (Dr. MacDonald), St. Bartholomew’s Hospital, London; School of Biological Sciences (Dr. Pickering–Brown) and Department of Medicine (Dr. Mann), University of Manchester; Department of Neuropathology (M.N. Khan...
- National Institutes of Health (US)
- ORCID
- Venue
- Neurology
- Published
- 2001-06-26
- Volume
- 56
- Issue
- 12
- Pages
- 1702-1706
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2045671840
- Cited by
- 409
- References
- 32
- Citations by year
- 2026: 3 · 2025: 11 · 2024: 14 · 2023: 9 · 2022: 2 · 2021: 11 · 2020: 11 · 2019: 11 · 2018: 10 · 2017: 14 · 2016: 19 · 2015: 16 · 2014: 16 · 2013: 7 · 2012: 16
- FWCI
- 16.77
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Clinical Neurology › Parkinson's Disease Mechanisms and Treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- corticobasal degeneration, progressive supranuclear palsy, tau gene, tau aggregation, genetic association, neurodegeneration
- MeSH terms
- Genotype, Haplotypes, Humans, Supranuclear Palsy, Progressive, Polymerase Chain Reaction, tau Proteins, Neurodegenerative Diseases
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