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Tau acts as an independent genetic risk factor in pathologically proven PD

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.
838.e7-838.e11
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
eb07da9b-2f85-4474-900e-d2752b503450
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.
87377c8c-bbfd-4e16-bc36-801554c0cdc4
Lees, Andrew
dba4db52-3b05-4414-a801-e3255d068b67
Morrison, Karen
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
Sheerin, Una-Marie
28ab45dc-30d5-4925-87d2-732c5f51293f
Williams, Nigel
ff77e089-5a57-44cf-84c6-d9a288bf3bc0
Morris, Huw
28869e32-dabc-4fa6-a6c3-e358ea571cdb
Revesz, Tamas
63a66787-70ba-4f8d-bcf6-94833d039fee
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), 838.e7-838.e11. (doi:10.1016/j.neurobiolaging.2011.11.001).

Record type: Article

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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1-s2.0-S0197458011004726-main.pdf__tid=4ca155b6-5334-11e6-b7ad-00000aacb35f&acdnat=1469539657_baf2df8ab40b3f82c39733e99cacc22f - Version of Record
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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

Identifiers

Local EPrints ID: 398562
URI: https://eprints.soton.ac.uk/id/eprint/398562
PURE UUID: 963d4584-f041-41e6-b6f3-c02e52411f39
ORCID for Karen Morrison: ORCID iD orcid.org/0000-0003-0216-5717

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Date deposited: 26 Jul 2016 13:25
Last modified: 06 Jun 2018 12:19

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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 ORCID iD
Author: Una-Marie Sheerin
Author: Nigel Williams
Author: Huw Morris
Author: Tamas Revesz
Author: Nicholas W. Wood

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