Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease.

Franziska HopfnerStefanie H MuellerSilke SzymczakOlaf JungeLukas TittmannSandra MayKatja LohmannHarald GrallertWolfgang LiebKonstantin StrauchMartina Müller-NurasyidKlaus BergerBarbara SchormairJuliane WinkelmannBrit MollenhauerClaudia TrenkwalderWalter MaetzlerDaniela BergMeike KastenChristine KleinGünter U HöglingerThomas GasserGuenther DeuschlAndré FrankeMichael KrawczakAstrid DempfleGregor Kuhlenbäumer

Published in: Movement disorders : official journal of the Movement Disorder Society (2020)

Rare variants in selected lysosomal genes, first and foremost GBA, are associated with PD. Rare variants in ATP13A2 and VPC13C previously linked to monogenic PD and more common variants in TMEM175 and VPS13C previously linked to sporadic PD in genome-wide association studies are associated with PD. © 2020 International Parkinson and Movement Disorder Society.

Keyphrases

copy number
genome wide
genome wide association
late onset
dna methylation
gene expression
bioinformatics analysis
early onset