Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease
Movement Disorders2020Vol. 35(7), pp. 1245–1248
Citations Over TimeTop 10% of 2020 papers
Franziska Hopfner, Stefanie H. Mueller, Silke Szymczak, Olaf Junge, Lukas Tittmann, Sandra May, Katja Lohmann, Harald Grallert, Wolfgang Lieb, Konstantin Strauch, Martina Müller‐Nurasyid, Klaus Berger, Barbara Schormair, Juliane Winkelmann, Brit Mollenhauer, Claudia Trenkwalder, Walter Maetzler, Daniela Berg, Meike Kasten, Christine Klein, Günter U. Höglinger, Thomas Gasser, Günther Deuschl, André Franke, Michael Krawczak, Astrid Dempfle, Gregor Kuhlenbäumer
Abstract
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.
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