Phenotypic associations of tau and ApoE in Parkinson's disease.
Overlaps in clinical, pathological and molecular features of Parkinson's disease (PD), dementing and motor tauopathies have prompted association studies in search of common genetic risk factors that may predispose or modify this spectrum of disorders. To explore possible phenotypic implications, we studied common tau and ApoE gene polymorphisms, associated with Alzheimer's disease (AD), progressive supranuclear palsy (PSP) and PD, in a clinically and pathologically characterized cohort of PD patients and aged control subjects. Our results reveal a novel association between PD-related hallucinations and H1H1 genotype. We also report an association between PDD and the presence of the ApoE epsilon4 allele. Better determination of subsets of PD patients based upon the presence of specific phenotypic features may improve the accuracy of association studies.
Papapetropoulos
Spiridon
S
Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL 33136, United States. spapapetropoulos@med.miami.edu
Farrer
Matthew J
MJ
Stone
Jeremy T
JT
Milkovic
Nicole M
NM
Ross
Owen A
OA
Calvo
Linda
L
McQuorquodale
Donald
D
Mash
Deborah C
DC
D000368:Aged; D000369:Aged, 80 and over; D053327:Apolipoprotein E4 / Q000097:blood / Q000235:genetics; D001057:Apolipoproteins E / Q000097:blood / Q000235:genetics*; D001921:Brain / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006212:Hallucinations / Q000097:blood / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008297:Male; D010300:Parkinson Disease / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D011237:Predictive Value of Tests; D013494:Supranuclear Palsy, Progressive / Q000097:blood / Q000235:genetics / Q000503:physiopathology; D016875:tau Proteins / Q000235:genetics* / Q000378:metabolism
D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D005819:Genetic Markers; D016875:tau Proteins