Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson’s disease

Abstract Rare variants in the beta-glucocerebrosidase gene (GBA1) are common genetic risk factors for alpha synucleinopathy, which often manifests clinically as GBA-associated Parkinson’s disease (GBA-PD). Clinically, GBA-PD closely mimics idiopathic PD, but it may present at a younger age and often...

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Bibliographic Details
Main Authors: Muhammad Aslam, Nirosiya Kandasamy, Anwar Ullah, Nagarajan Paramasivam, Mehmet Ali Öztürk, Saima Naureen, Abida Arshad, Mazhar Badshah, Kafaitullah Khan, Muhammad Wajid, Rashda Abbasi, Muhammad Ilyas, Roland Eils, Matthias Schlesner, Rebecca C. Wade, Nafees Ahmad, Jakob von Engelhardt
Format: Article
Language:English
Published: Nature Publishing Group 2021-01-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-020-00163-8