Authors
Cornelis Blauwendraat, Xylena Reed, Lynne Krohn, Karl Heilbron, Sara Bandres-Ciga, Manuela Tan, J Raphael Gibbs, Dena G Hernandez, Ravindran Kumaran, Rebekah Langston, Luis Bonet‐Ponce, Roy N Alcalay, Sharon Hassin-Baer, Lior Greenbaum, Hirotaka Iwaki, Hampton L Leonard, Francis P Grenn, Jennifer A Ruskey, Marya Sabir, Sarah Ahmed, Mary B Makarious, Lasse Pihlstrøm, Mathias Toft, Jacobus J Van Hilten, Johan Marinus, Claudia Schulte, Kathrin Brockmann, Manu Sharma, Ari Siitonen, Kari Majamaa, Johanna Eerola-Rautio, Pentti J Tienari, 23andMe Research Team, Alexander Pantelyat, Argye E Hillis, Ted M Dawson, Liana S Rosenthal, Marilyn S Albert, Susan M Resnick, Luigi Ferrucci, Christopher M Morris, Olga Pletnikova, Juan Troncoso, Donald Grosset, Suzanne Lesage, Jean-Christophe Corvol, Alexis Brice, Alastair J Noyce, Eliezer Masliah, Nick Wood, John Hardy, Lisa M Shulman, Joseph Jankovic, Joshua M Shulman, Peter Heutink, Thomas Gasser, Paul Cannon, Sonja W Scholz, Huw Morris, Mark R Cookson, Mike A Nalls, Ziv Gan-Or, Andrew B Singleton
Publication date
2020/1/1
Journal
Brain
Volume
143
Issue
1
Pages
234-248
Publisher
Oxford University Press
Description
Parkinson’s disease is a genetically complex disorder. Multiple genes have been shown to contribute to the risk of Parkinson’s disease, and currently 90 independent risk variants have been identified by genome-wide association studies. Thus far, a number of genes (including SNCA, LRRK2, and GBA) have been shown to contain variability across a spectrum of frequency and effect, from rare, highly penetrant variants to common risk alleles with small effect sizes. Variants in GBA, encoding the enzyme glucocerebrosidase, are associated with Lewy body diseases such as Parkinson’s disease and Lewy body dementia. These variants, which reduce or abolish enzymatic activity, confer a spectrum of disease risk, from 1.4- to >10-fold. An outstanding question in the field is what other genetic factors that influence GBA-associated risk for disease, and whether these overlap with known Parkinson’s disease risk …
Scholar articles
C Blauwendraat, X Reed, L Krohn, K Heilbron… - Brain, 2020