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, 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 |
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 |
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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: | 04 Jun 2017 03:45 |
URI: | http://orca.cf.ac.uk/id/eprint/25862 |
Citation Data
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Cited 19 times in Scopus. View in Scopus. Powered By Scopus® Data
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