University of Oulu

Cajanus, A., Katisko, K., Kontkanen, A., Jääskeläinen, O., Hartikainen, P., Haapasalo, A., Herukka, S.‐K., Vanninen, R., Solje, E., Hall, A. and Remes, A.M. (2020), Serum neurofilament light chain in FTLD: association with C9orf72, clinical phenotype, and prognosis. Ann Clin Transl Neurol, 7: 903-910. doi:10.1002/acn3.51041

Serum neurofilament light chain in FTLD : association with C9orf72, clinical phenotype, and prognosis

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Author: Cajanus, Antti1; Katisko, Kasper1; Kontkanen, Aleksi1;
Organizations: 1Institute of Clinical Medicine ‐ Neurology, University of Eastern Finland, Kuopio, Finland
2Neuro Center, Neurology, Kuopio University Hospital, Kuopio, Finland
3A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland
4Department of Radiology, Kuopio University Hospital, Kuopio, Finland
5Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland
6Medical Research Center, Oulu University Hospital, Oulu, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.4 MB)
Persistent link:
Language: English
Published: John Wiley & Sons, 2020
Publish Date: 2020-08-31


Objective: The aim of the present study was to compare the levels of serum neurofilament light chain (sNfL) in frontotemporal lobar degeneration (FTLD) patients of different clinical subtypes (bvFTD, PPA, and FTLD‐MND) and with or without the C9orf72 repeat expansion, and to correlate sNfL levels to disease progression, assessed by the brain atrophy rate and survival time.

Methods: The sNfL levels were determined from 78 FTLD patients (C9orf72 repeat expansion carriers [n = 26] and non‐carriers [n = 52]) with Single Molecule Array (SIMOA). The progression of brain atrophy was evaluated using repeated T1‐weighted MRI scans and the survival time from medical records.

Results: In the total FTLD cohort, sNfL levels were significantly higher in C9orf72 repeat expansion carriers compared to non‐carriers. Considering clinical phenotypes, sNfL levels were higher in the C9orf72 repeat expansion carriers than in the non‐carriers in bvFTD and PPA groups. Furthermore, sNfL levels were the highest in the FTLD‐MND group (median 105 pg/mL) and the lowest in the bvFTD group (median 27 pg/mL). Higher sNfL levels significantly correlated with frontal cortical atrophy rate and subcortical grey matter atrophy rate. The higher sNfL levels also associated with shorter survival time.

Interpretation: Our results indicate that the C9orf72 repeat expansion carriers show elevated sNFL levels compared to non‐carriers and that the levels differ among different clinical phenotypes of FTLD. Higher sNfL levels correlated with a shorter survival time and cortical and subcortical atrophy rates. Thus, sNfL could prove as a potential prognostic biomarker in FTLD.

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Series: Annals of clinical and translational neurology
ISSN: 2328-9503
ISSN-E: 2328-9503
ISSN-L: 2328-9503
Volume: 7
Issue: 6
Pages: 903 - 910
DOI: 10.1002/acn3.51041
Type of Publication: A1 Journal article – refereed
Field of Science: 3124 Neurology and psychiatry
Funding: This study has received funding from Finnish Medical Foundation, Finnish Alzheimer’s Disease Research Society, Olvi Foundation, Maire Taponen Foundation, Päivikki and Sakari Sohlberg Foundation, Finnish Cultural Foundation, Maud Kuistila Memorial Foundation, University of Oulu, Kuopio University Hospital and Academy of Finland (no. 315459, AH; no. 315460, AMR). This study is part of the FinFTD network research activities.
Academy of Finland Grant Number: 315459
Detailed Information: 315459 (Academy of Finland Funding decision)
315460 (Academy of Finland Funding decision)
Copyright information: © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, 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.