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.
Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.
Gavin
G
Charlesworth
Sonia
S
Gandhi
Jose M
JM
Bras
Roger A
RA
Barker
David J
DJ
Burn
Patrick F
PF
Chinnery
Stephen M
SM
Gentleman
Rita
R
Guerreiro
John
J
Hardy
Janice L
JL
Holton
Andrew
A
Lees
Karen
K
Morrison
Una-Marie
UM
Sheerin
Nigel
N
Williams
Huw
H
Morris
Tamas
T
Revesz
Nicholas W
NW
Wood
D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D015201:Meta-Analysis as Topic; D010300:Parkinson Disease / Q000235:genetics* / Q000473:pathology*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D013494:Supranuclear Palsy, Progressive / Q000235:genetics / Q000473:pathology; D016875:tau Proteins / Q000235:genetics*
C054369:MAPT protein, human; D016875:tau Proteins