Cited by 409Alzheimer's disease research and treatmentsParkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

Houlden, H., Baker, M., Morris, H.R., MacDonald, N., Pickering–Brown, S., Adamson, J., Lees, A.J., Rossor, M.N. +16 more·2001·Neurology

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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Crossref · 10.1212/wnl.56.12.1702

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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)
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
  • Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
  • Health Sciences › Medicine › 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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