This study identifies a new susceptibility locus, PLA2G4C, for Multiple System Atrophy through a genome-wide association study and functional analysis of a risk variant.

medRxiv · May 2, 2023 · PreprintGenetic & Genomic Medicine

Genome-wide association studies of LRRK2 modifiers of Parkinson's disease

Dongbing Lai, Babak Alipanahi, Pierre Fontanillas, Tae-Hwi Linus Schwantes-An, Jan Olav Aasly, Roy N. Alcalay, Gary W. Beecham, Daniela Berg, Susan Bressman, Alexis Brice, Kathrin Brockmann, Lorraine N. Clark, Mark Cookson, Sayantan Das, Vivianna M. Van Deerlin, , Tatiana Foroud

This study identifies genetic modifiers of LRRK2 mutations in Parkinson's disease, finding a significant variant in CORO1C and a polygenic risk score effect on penetrance.

Annals of Neurology · May 3, 2021Peer-reviewedGenetic & Genomic Medicine

Validation of Serum Neurofilament Light Chain as a Biomarker of Parkinson's Disease Progression

Brit Mollenhauer, Mohammed Dakna, Niels Kruse, Douglas R Galasko, Tatiana Foroud, Henrik Zetterberg, Sebastian Schade, Roland G. Gera, Wenting Wang, Feng Gao, Mark A. Frasier, Lana M. Chahine, Christopher S. Coffey, Andrew Singleton, Tanya Simuni, , Danielle L. Graham

This paper validates serum neurofilament light chain (NfL) as a biomarker for Parkinson's disease progression, showing increased levels in PD patients compared to healthy controls and a longitudinal increase correlating with clinical severity.

Movement Disorders · Aug 15, 2020Peer-reviewedNeuroscience