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. 2021 Aug 4;92(12):1278–1288. doi: 10.1136/jnnp-2021-326914

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© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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Baseline pNfL levels and longitudinal changes in presymptomatic carriers. (A) pNfL levels at baseline according to the age at sampling in C9orf72 (r=0.651, p<0.0001) and in GRN carriers (r=0.359, p=0.029). (B) Spaghetti plot representing pNfL changes from the first to the last observations in 66 carriers and 58 controls with comparable demographic variables undergoing longitudinal sampling (mean follow-up: 3 years). (C) Longitudinal trajectories of pNfL levels in C9orf72 and GRN carriers and controls (continuous lines, CI 99%), which were comparable at group level (p=0.172). Eight individuals (five C9orf72 and three GRN carriers: dots and dashed lines) qualified as outliers, having remarkable baseline values and/or increases over time. Four of them were prodromal C9orf72 carriers (see online supplemental table A1). CI : confidence interval; NfL, neurofilament light chain; pNfL, plasma neurofilament light chain; y, years.