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  • 1. Oeckl, Patrick
    et al.
    Jardel, Claude
    Salachas, Francois
    Lamari, Foudil
    Andersen, Peter M.
    Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience, Clinical Neuroscience.
    Bowser, Robert
    de Carvalho, Mamede
    Costa, Julia
    van Damme, Philip
    Gray, Elizabeth
    Grosskreutz, Julian
    Hernandez-Barral, Maria
    Herukka, Sanna-Kaisa
    Huss, Andre
    Jeromin, Andreas
    Kirby, Janine
    Kuzma-Kozakiewicz, Magdalena
    Amador, Maria del Mar
    Mora, Jesus S.
    Morelli, Claudia
    Muckova, Petra
    Petri, Susanne
    Poesen, Koen
    Rhode, Heidrun
    Rikardsson, Anna-Karin
    Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience, Clinical Neuroscience.
    Robberecht, Wim
    Rodriguez Mahillo, Ana I.
    Shaw, Pamela
    Silani, Vincenzo
    Steinacker, Petra
    Turner, Martin R.
    Tuzun, Erdem
    Yetimler, Berrak
    Ludolph, Albert C.
    Otto, Markus
    Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS2016In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, ISSN 2167-8421, E-ISSN 2167-9223, Vol. 17, no 5-6, p. 404-413Article in journal (Refereed)
    Abstract [en]

    OBJECTIVE: Neurofilaments are leading neurochemical biomarkers for amyotrophic lateral sclerosis (ALS). Here, we investigated the effect of preanalytical factors on neurofilament concentrations in cerebrospinal fluid (CSF) in a reverse round-robin with 15 centers across Europe/U.S. METHODS: Samples from ALS and control patients (5/5 each center, n=150) were analyzed for phosphorylated neurofilament heavy chain (pNfH) and neurofilament light chain (NfL) at two laboratories. RESULTS: CSF pNfH was increased (p<0.05) in ALS in 10 out of 15 centers and NfL in 5 out of 12 centers. The coefficient of variation (CV%) of pNfH measurements between laboratories was 18.7 +/- 19.1%. We calculated a diagnostic cut-off of >568.5pg/mL for pNfH (sensitivity 78.7%, specificity 93.3%) and >1,431pg/mL for NfL (sensitivity 79.0%, specificity 86.4%). CONCLUSION: Values in ALS patients are already comparable between most centers, supporting eventual implementation into clinical routine. However, continuous quality control programs will be necessary for inclusion in the diagnostic work-up.

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