Tau acts as an independent genetic risk factor in pathologically proven PD
Tau acts as an independent genetic risk factor in pathologically proven PD
MAPT has been repeatedly linked with Parkinson's disease (PD) in association studies. Although tau deposition may be seen in PD, its relevance to the pathogenesis of the condition remains unclear. The presence of tau-positive inclusions is, however, the defining feature of progressive supranuclear palsy (PSP), which may often be clinically misdiagnosed as idiopathic PD. On a genetic level, variants in MAPT are the strongest risk factor for PSP. These facts raise the question whether the MAPT association in PD results from contamination with unrecognized cases of PSP. Using only neuropathologically proven PD, we show that the MAPT association remains and is independent of the PSP Association.
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Charlesworth, Gavin
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Gandhi, Sonia
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Bras, Jose M.
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Barker, Roger A.
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Burn, David J.
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Chinnery, Patrick F.
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Gentleman, Stephen M.
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Guerreiro, Rita
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Hardy, John
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Holton, Janice L.
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Lees, Andrew
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Morrison, Karen
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Sheerin, Una-Marie
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Williams, Nigel
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Morris, Huw
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Revesz, Tamas
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Wood, Nicholas W.
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April 2012
Charlesworth, Gavin
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Gandhi, Sonia
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Bras, Jose M.
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Barker, Roger A.
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Burn, David J.
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Chinnery, Patrick F.
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Gentleman, Stephen M.
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Guerreiro, Rita
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Hardy, John
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Holton, Janice L.
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Lees, Andrew
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Morrison, Karen
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Sheerin, Una-Marie
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Williams, Nigel
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Morris, Huw
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Revesz, Tamas
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Wood, Nicholas W.
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Charlesworth, Gavin, Gandhi, Sonia, Bras, Jose M., Barker, Roger A., Burn, David J., Chinnery, Patrick F., Gentleman, Stephen M., Guerreiro, Rita, Hardy, John, Holton, Janice L., Lees, Andrew, Morrison, Karen, Sheerin, Una-Marie, Williams, Nigel, Morris, Huw, Revesz, Tamas and Wood, Nicholas W.
(2012)
Tau acts as an independent genetic risk factor in pathologically proven PD.
Neurobiology of Aging, 33 (4), .
(doi:10.1016/j.neurobiolaging.2011.11.001).
Abstract
MAPT has been repeatedly linked with Parkinson's disease (PD) in association studies. Although tau deposition may be seen in PD, its relevance to the pathogenesis of the condition remains unclear. The presence of tau-positive inclusions is, however, the defining feature of progressive supranuclear palsy (PSP), which may often be clinically misdiagnosed as idiopathic PD. On a genetic level, variants in MAPT are the strongest risk factor for PSP. These facts raise the question whether the MAPT association in PD results from contamination with unrecognized cases of PSP. Using only neuropathologically proven PD, we show that the MAPT association remains and is independent of the PSP Association.
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Accepted/In Press date: 2 November 2011
e-pub ahead of print date: 4 January 2012
Published date: April 2012
Organisations:
Medical Education
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Local EPrints ID: 398562
URI: http://eprints.soton.ac.uk/id/eprint/398562
PURE UUID: 963d4584-f041-41e6-b6f3-c02e52411f39
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Date deposited: 26 Jul 2016 13:25
Last modified: 15 Mar 2024 01:35
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Contributors
Author:
Gavin Charlesworth
Author:
Sonia Gandhi
Author:
Jose M. Bras
Author:
Roger A. Barker
Author:
David J. Burn
Author:
Patrick F. Chinnery
Author:
Stephen M. Gentleman
Author:
Rita Guerreiro
Author:
John Hardy
Author:
Janice L. Holton
Author:
Andrew Lees
Author:
Karen Morrison
Author:
Una-Marie Sheerin
Author:
Nigel Williams
Author:
Huw Morris
Author:
Tamas Revesz
Author:
Nicholas W. Wood
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