Work

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

Year: 2012

Type: article

Study design: Observational Study

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.

Source: Neurobiology of Aging

DOI: 10.1016/j.neurobiolaging.2011.11.001

Authors: Gavin Charlesworth, Sonia Gandhi, Jose M. Bras, Roger A. Barker, David J. Burn, Patrick F. Chinnery, Stephen M. Gentleman, Rita Guerreiro, John Hardy, Janice L. Holton, Andrew Lees, Karen Morrison, Una-Marie Sheerin, Nigel Williams, Huw Morris, Tamas Revesz, Nicholas W. Wood

Institutions: National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, University College London, University of Cambridge, Addenbrooke's Hospital, Newcastle University, Imperial College London, University of Birmingham, Cardiff University

Language: English

Topic: Parkinson's Disease Mechanisms and Treatments

Subfield: Clinical Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,430

Funders: University of Dundee, Wellcome Trust, National Institute for Health and Care Research, Parkinson's UK, University of Cambridge, University College London, Medical Research Council

Awards: G2845388095, A systematic investigation into the pathogenesis and course of Parkinson's syndrome, G3327757157, G3945394334, G4265316335, WTCCC Part Two., G6265045657, G6804723138, G695839759, G7310981802, NIHR Senior Investigator Award, G8083352728, A systematic investigation into the pathogenesis and course of Parkinson's syndrome., WTCCC Part Two, G992107779

OpenAlex ID: W1984028859

FWCI: 3.544

Cites: 22

Cited by: 29

Related to: 10