Longitudinal clinical and biomarker characteristics of non-manifesting LRRK2 G2019S carriers in the PPMI cohort

Autor: Tanya Simuni, Kalpana Merchant, Michael C. Brumm, Hyunkeun Cho, Chelsea Caspell-Garcia, Christopher S. Coffey, Lana M. Chahine, Roy N. Alcalay, Kelly Nudelman, Tatiana Foroud, Brit Mollenhauer, Andrew Siderowf, Caroline Tanner, Hirotaka Iwaki, Todd Sherer, Kenneth Marek, Parkinson’s Progression Marker Initiative Authors
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-10 (2022)
Druh dokumentu: article
ISSN: 2373-8057
DOI: 10.1038/s41531-022-00404-w
Popis: Abstract We examined 2-year longitudinal change in clinical features and biomarkers in LRRK2 non-manifesting carriers (NMCs) versus healthy controls (HCs) enrolled in the Parkinson’s Progression Markers Initiative (PPMI). We analyzed 2-year longitudinal data from 176 LRRK2 G2019S NMCs and 185 HCs. All participants were assessed annually with comprehensive motor and non-motor scales, dopamine transporter (DAT) imaging, and biofluid biomarkers. The latter included cerebrospinal fluid (CSF) Abeta, total tau and phospho-tau; serum urate and neurofilament light chain (NfL); and urine bis(monoacylglycerol) phosphate (BMP). At baseline, LRRK2 G2019S NMCs had a mean (SD) age of 62 (7.7) years and were 56% female. 13% had DAT deficit (defined as
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