학술논문
Longitudinal clinical and biomarker characteristics of non-manifesting LRRK2 G2019S carriers in the PPMI cohort.
Document Type
article
Author
Simuni, Tanya; Merchant, Kalpana; Brumm, Michael C; Cho, Hyunkeun; Caspell-Garcia, Chelsea; Coffey, Christopher S; Chahine, Lana M; Alcalay, Roy N; Nudelman, Kelly; Foroud, Tatiana; Mollenhauer, Brit; Siderowf, Andrew; Tanner, Caroline; Iwaki, Hirotaka; Sherer, Todd; Marek, Kenneth; Parkinson’s Progression Marker Initiative Authors
Source
NPJ Parkinson's disease. 8(1)
Subject
Language
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