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

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 Melville ORCID: https://orcid.org/0000-0003-1177-6931, Morris, Huw Rees, 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. 10.1016/j.neurobiolaging.2011.11.001

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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 riskfactor for PSP. These facts raise the question whether the MAPT association in PD results from contamination with unrecognized cases of PSP. Using only neuropathologically provenPD, we show that the MAPT association remains and is independent of the PSP Association.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	Genetics; Association study; Parkinson's disease; MAPT; Tau; Progressive supranuclear palsy; PD; PSP
Publisher:	Elsevier
ISSN:	0197-4580
Last Modified:	19 Oct 2022 10:53
URI:	https://orca.cardiff.ac.uk/id/eprint/25862

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