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

NEUROBIOLOGY OF AGING

卷:33

Article

Charlesworth, Gavin¹  Gandhi, Sonia¹  Bras, Jose M.¹  Barker, Roger A.²  Burn, David J.³  Chinnery, Patrick F.⁴  Gentleman, Stephen M.⁵  Guerreiro, Rita¹  Hardy, John¹  Holton, Janice L.⁶  Lees, Andrew⁶  Morrison, Karen⁷  Sheerin, Una-Marie¹  Williams, Nigel⁸  Morris, Huw⁸  Revesz, Tamas⁶  Wood, Nicholas W.^1,9 

[1] UCL Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

[2] Univ Cambridge, Addenbrookes Hosp, Dept Clin Neurosci, Cambridge CB2 2QQ, England

[3] Newcastle Univ, Inst Ageing & Hlth, Clin Ageing Res Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[4] Newcastle Univ, Inst Ageing & Hlth, Mitochondrial Res Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[5] Univ London Imperial Coll Sci Technol & Med, Dept Med, Div Expt Med, Neuropathol Unit,Ctr Neurosci, London, England

[6] UCL, Inst Neurol, Queen Sq Brain Bank Neurol Disorders, London, England

[7] Univ Birmingham, Div Neurosci, Birmingham, W Midlands, England

[8] Cardiff Univ, Sch Med, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales

[9] UCL Genet Inst, London, England

关键词: Genetics;    Association study;    Parkinson's disease;    MAPT;    Tau;    Progressive supranuclear palsy;    PD;    PSP;   

DOI  :  10.1016/j.neurobiolaging.2011.11.001

来源: Elsevier

【 摘 要 】

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. (C) 2012 Elsevier Inc. All rights reserved.

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