Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease

Many individuals with Parkinson's disease (PD) develop cognitive deficits, and a phenotypic and molecular overlap between neurodegenerative diseases exists. We investigated the contribution of rare variants in seven genes of known relevance to dementias (β-amyloid precursor protein (APP), PSEN1...

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Veröffentlicht in:European journal of human genetics : EJHG 2015-10, Vol.23 (10), p.1328-1333
Hauptverfasser: Schulte, Eva C, Fukumori, Akio, Mollenhauer, Brit, Hor, Hyun, Arzberger, Thomas, Perneczky, Robert, Kurz, Alexander, Diehl-Schmid, Janine, Hüll, Michael, Lichtner, Peter, Eckstein, Gertrud, Zimprich, Alexander, Haubenberger, Dietrich, Pirker, Walter, Brücke, Thomas, Bereznai, Benjamin, Molnar, Maria J, Lorenzo-Betancor, Oswaldo, Pastor, Pau, Peters, Annette, Gieger, Christian, Estivill, Xavier, Meitinger, Thomas, Kretzschmar, Hans A, Trenkwalder, Claudia, Haass, Christian, Winkelmann, Juliane
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Sprache:eng
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Zusammenfassung:Many individuals with Parkinson's disease (PD) develop cognitive deficits, and a phenotypic and molecular overlap between neurodegenerative diseases exists. We investigated the contribution of rare variants in seven genes of known relevance to dementias (β-amyloid precursor protein (APP), PSEN1/2, MAPT (microtubule-associated protein tau), fused in sarcoma (FUS), granulin (GRN) and TAR DNA-binding protein 43 (TDP-43)) to PD and PD plus dementia (PD+D) in a discovery sample of 376 individuals with PD and followed by the genotyping of 25 out of the 27 identified variants with a minor allele frequency
ISSN:1018-4813
1476-5438
DOI:10.1038/ejhg.2014.300