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

Authors :
Simuni, T
Merchant, K
Brumm, MC
Cho, H
Caspell-Garcia, C
Coffey, CS
Chahine, LM
Alcalay, RN
Nudelman, K
Foroud, T
Mollenhauer, B
Siderowf, A
Tanner, C
Iwaki, H
Sherer, T
Marek, K
Seibyl, J
Coffey, C
Tosun-Turgut, D
Shaw, LM
Trojanowski, JQ
Singleton, A
Kieburtz, K
Toga, A
Galasko, D
Poewe, W
Poston, K
Bressman, S
Reimer, A
Arnedo, V
Clark, A
Frasier, M
Kopil, C
Chowdhury, S
Casaceli, C
Dorsey, R
Wilson, R
Mahes, S
Salerno, C
Ahrens, M
Brumm, M
Cho, HR
Fedler, J
LaFontant, D-E
Kurth, R
Crawford, K
Casalin, P
Malferrari, G
Weisz, MG
Orr-Urtreger, A
Trojanowski, J
Shaw, L
Montine, T
Baglieri, C
Christini, A
Russell, D
Dahodwala, N
Giladi, N
Factor, S
Hogarth, P
Standaert, D
Hauser, R
Jankovic, J
Saint-Hilaire, M
Richard, I
Shprecher, D
Fernandez, H
Brockmann, K
Rosenthal, L
Barone, P
Espayc, A
Rowe, D
Marder, K
Santiago, A
Hu, S-C
Isaacson, S
Corvol, J-C
Martinez, JR
Tolosa, E
Tai, Y
Politis, M
Smejdir, D
Rees, L
Williams, K
Kausar, F
Richardson, W
Willeke, D
Peacock, S
Sommerfeld, B
Freed, A
Wakeman, K
Blair, C
Guthrie, S
Harrell, L
Hunter, C
Thomas, C-A
James, R
Zimmerman, G
Brown, V
Mule, J
Hilt, E
Ribb, K
Ainscough, S
Wethington, M
Ranola, M
Santana, HM
Moreno, J
Raymond, D
Speketer, K
Carvajal, L
Carvalo, S
Croitoru, I
Garrido, A
Payne, LM
Viswanth, V
Severt, L
Facheris, M
Soares, H
Mintun, MA
Cedarbaum, J
Taylor, P
Biglan, K
Vandenbroucke, E
Sheikh, ZH
Bingol, B
Fischer, T
Sardi, P
Forrat, R
Reith, A
Egebjerg, J
Hillert, GA
Saba, B
Min, C
Umek, R
Mather, J
De Santi, S
Post, A
Boess, F
Taylor, K
Grachev, I
Avbersek, A
Muglia, P
Tauscher, J
Michael J Fox Foundation
Publication Year :
2022
Publisher :
Nature Research, 2022.

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

Details

Language :
English
Database :
OpenAIRE
Accession number :
edsair.od......1032..57cb78cbdcff5c5771194646efb11352