title: 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 share a similar cause, although the pathogenic mechanism behind the two diseases leads to a different clinical and pathologic phenotype.
authors: Neurogenetics, Clinical Neurology and Dementia Research Group, Institute of Neurology, London.
authors: H
authors: H
authors: Houlden
authors: M
authors: M
authors: Baker
authors: H R
authors: HR
authors: Morris
authors: N
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authors: MacDonald
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authors: S
authors: Pickering-Brown
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authors: Adamson
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authors: AJ
authors: Lees
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authors: Rossor
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authors: Quinn
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authors: Kertesz
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authors: MN
authors: Khan
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authors: Hardy
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authors: Lantos
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authors: St  George-Hyslop
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authors: DG
authors: Munoz
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authors: Mann
authors: A E
authors: AE
authors: Lang
authors: C
authors: C
authors: Bergeron
authors: E H
authors: EH
authors: Bigio
authors: I
authors: I
authors: Litvan
authors: K P
authors: KP
authors: Bhatia
authors: D
authors: D
authors: Dickson
authors: N W
authors: NW
authors: Wood
authors: M
authors: M
authors: Hutton
mesh_terms: D005838:Genotype; D006239:Haplotypes; D006801:Humans; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000473:pathology*; D016133:Polymerase Chain Reaction; D013494:Supranuclear Palsy, Progressive / Q000235:genetics* / Q000473:pathology*; D016875:tau Proteins / Q000235:genetics*
chemical_list: D016875:tau Proteins