RT Journal Article
SR Electronic
T1 Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 1702
OP 1706
DO 10.1212/WNL.56.12.1702
VO 56
IS 12
A1 H. Houlden
A1 M. Baker
A1 H.R. Morris
A1 N. MacDonald
A1 S. Pickering–Brown
A1 J. Adamson
A1 A.J. Lees
A1 M.N. Rossor
A1 N.P. Quinn
A1 A. Kertesz
A1 M.N. Khan
A1 J. Hardy
A1 P.L. Lantos
A1 P. St. George–Hyslop
A1 D.G. Munoz
A1 D. Mann
A1 A.E. Lang
A1 C. Bergeron
A1 E.H. Bigio
A1 I. Litvan
A1 K.P. Bhatia
A1 D. Dickson
A1 N.W. Wood
A1 M. Hutton
YR 2001
UL http://n.neurology.org/content/56/12/1702.abstract
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.