PT  - JOURNAL ARTICLE
AU  - H. Houlden
AU  - M. Baker
AU  - H.R. Morris
AU  - N. MacDonald
AU  - S. Pickering–Brown
AU  - J. Adamson
AU  - A.J. Lees
AU  - M.N. Rossor
AU  - N.P. Quinn
AU  - A. Kertesz
AU  - M.N. Khan
AU  - J. Hardy
AU  - P.L. Lantos
AU  - P. St. George–Hyslop
AU  - D.G. Munoz
AU  - D. Mann
AU  - A.E. Lang
AU  - C. Bergeron
AU  - E.H. Bigio
AU  - I. Litvan
AU  - K.P. Bhatia
AU  - D. Dickson
AU  - N.W. Wood
AU  - M. Hutton
TI  - Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype
AID  - 10.1212/WNL.56.12.1702
DP  - 2001 Jun 26
TA  - Neurology
PG  - 1702--1706
VI  - 56
IP  - 12
4099  - http://n.neurology.org/content/56/12/1702.short
4100  - http://n.neurology.org/content/56/12/1702.full
SO  - Neurology2001 Jun 26; 56
AB  - 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.