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Neurofilament light chain: a biomarker for genetic frontotemporal dementia

Meeter, LH; Dopper, EG; Jiskoot, LC; Sanchez-Valle, R; Graff, C; Benussi, L; Ghidoni, R; ... van Swieten, JC; + view all (2016) Neurofilament light chain: a biomarker for genetic frontotemporal dementia. Annals of Clinical and Translational Neurology , 3 (8) pp. 623-636. 10.1002/acn3.325. Green open access

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OBJECTIVE: To evaluate cerebrospinal fluid (CSF) and serum neurofilament light chain (NfL) levels in genetic frontotemporal dementia (FTD) as a potential biomarker in the presymptomatic stage and during the conversion into the symptomatic stage. Additionally, to correlate NfL levels to clinical and neuroimaging parameters. METHODS: In this multicenter case–control study, we investigated CSF NfL in 174 subjects (48 controls, 40 presymptomatic carriers and 86 patients with microtubule-associated protein tau (MAPT), progranulin (GRN), and chromosome 9 open reading frame 72 (C9orf72) mutations), and serum NfL in 118 subjects (39 controls, 44 presymptomatic carriers, 35 patients). In 55 subjects both CSF and serum was determined. In two subjects CSF was available before and after symptom onset (converters). Additionally, NfL levels were correlated with clinical parameters, survival, and regional brain atrophy. RESULTS: CSF NfL levels in patients (median 6762 pg/mL, interquartile range 3186–9309 pg/mL) were strongly elevated compared with presymptomatic carriers (804 pg/mL, 627–1173 pg/mL, P < 0.001), resulting in a good diagnostic performance to discriminate both groups. Serum NfL correlated highly with CSF NfL (rs = 0.87, P < 0.001) and was similarly elevated in patients. Longitudinal samples in the converters showed a three- to fourfold increase in CSF NfL after disease onset. Additionally, NfL levels in patients correlated with disease severity, brain atrophy, annualized brain atrophy rate and survival. INTERPRETATION: NfL in both serum and CSF has the potential to serve as a biomarker for clinical disease onset and has a prognostic value in genetic FTD.

Type: Article
Title: Neurofilament light chain: a biomarker for genetic frontotemporal dementia
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/acn3.325
Publisher version: http://dx.doi.org/10.1002/acn3.325
Language: English
Additional information: Copyright © 2016 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
URI: http://discovery.ucl.ac.uk/id/eprint/1516254
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