| Title: |
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 |
| Contributors: |
Michael J Fox Foundation |
| Source: |
10 ; 1 |
| Publisher Information: |
Nature Research |
| Publication Year: |
2022 |
| Collection: |
Imperial College London: Spiral |
| Description: |
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 |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
npj Parkinson's Disease; http://hdl.handle.net/10044/1/101202; PPMI/5583709074FF |
| DOI: |
10.1038/s41531-022-00404-w |
| Availability: |
http://hdl.handle.net/10044/1/101202; https://doi.org/10.1038/s41531-022-00404-w |
| Rights: |
© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. ; http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.D3CE9AEC |
| Database: |
BASE |