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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 and Dr. Lantos), Institute of Psychiatry, London; Department of Neuropathology (Drs. Kertesz and Munoz), University of Western Ontario; Department of Neurology (Drs. St. George–Hyslop and Lang) and Neuropathology (Dr. Bergeron), Toronto; Department of Pathology (Dr. Bigio), UT Southwestern Medical School, Dallas, TX; National Institutes of Neurological Disorders and Stroke (Dr. Litvan), National Institutes of Health, Bethesda, MD.
Address correspondence and reprint requests to Dr. Mike Hutton, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224; e-mail: hutton.michael{at}mayo.edu
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 (X2 = 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 (X2 = 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 share a similar cause, although the pathogenic mechanism behind the two diseases leads to a different clinical and pathologic phenotype.
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