The paper quantifies technical variability in whole blood transcriptome data from the PPMI study using pooled reference samples and describes the dataset's availability.

medRxiv · Jan 5, 2021 · PreprintGenetic & 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

An assessment of LRRK2 serine 935 phosphorylation in human peripheral blood mononuclear cells in idiopathic Parkinson’s disease and G2019S LRRK2 cohorts

Shalini Padmanabhan, Thomas A. Lanz, Donal N. Gorman, Michele Wolfe, Alison P. Joyce, Carlos Cabrera, Rosemary F. Lawrence-Henderson, Najah Levers, Neal Joshi, Thong Chi Ma, Christopher Liong, Sushma Narayan, Roy N. Alcalay, Samantha J. Hutten, Marco A. S. Baptista, Kalpana Merchant

The paper assesses pS935 LRRK2 levels in PBMCs of iPD and G2019S LRRK2 carriers, finding reduced levels in G2019S carriers with PD compared to those without PD or iPD.

Journal of Parkinson s Disease · Jan 28, 2020Peer-reviewedNeuroscience

Genome-wide association study of Parkinsons disease progression biomarkers in 12 longitudinal patients cohorts

Hirotaka Iwaki, Cornelis Blauwendraat, Hampton L. Leonard, Jonggeol Jeffrey Kim, Ganqiang Liu, Jodi Maple‐Grødem, Jean‐Christophe Corvol, Lasse Pihlstrøm, Marlies van Nimwegen, Samantha J. Hutten, H. Nguyen Khanh-Dung, Jacqueline H. Rick, Shirley W. Eberly, Faraz Faghri, Peggy Auinger, , Mike A. Nalls

This study identifies two genome-wide significant variants associated with Parkinson's disease progression and replicates known risk variants' effects on motor and cognitive decline.

bioRxiv · Mar 27, 2019 · PreprintGenetics