Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS

Patrick Oeckl, Claude Jardel, François Salachas, Foudil Lamari, Peter M. Andersen, Robert Bowser, Mamede de Carvalho, Júlia Costa, Philip van Damme, Elizabeth Gray, Julian Grosskreutz, María Hernández-Barral, Sanna Kaisa Herukka, André Huss, Andreas Jeromin, Janine Kirby, Magdalena Kuzma-Kozakiewicz, Maria del Mar Amador, Jesús S. Mora, Claudia MorelliPetra Muckova, Susanne Petri, Koen Poesen, Heidrun Rhode, Anna Karin Rikardsson, Wim Robberecht, Ana I. Rodríguez Mahillo, Pamela Shaw, Vincenzo Silani, Petra Steinacker, Martin R. Turner, Erdem Tüzün, Berrak Yetimler, Albert C. Ludolph, Markus Otto

Research output: Contribution to journalArticle

Abstract

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 568.5 pg/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.

Original languageEnglish
Pages (from-to)1-10
Number of pages10
JournalAmyotrophic Lateral Sclerosis and Frontotemporal Degeneration
DOIs
Publication statusAccepted/In press - Apr 11 2016

Keywords

  • amyotrophic lateral sclerosis
  • biomarker
  • Cerebrospinal fluid
  • neurofilament
  • round robin

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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    Oeckl, P., Jardel, C., Salachas, F., Lamari, F., Andersen, P. M., Bowser, R., de Carvalho, M., Costa, J., van Damme, P., Gray, E., Grosskreutz, J., Hernández-Barral, M., Herukka, S. K., Huss, A., Jeromin, A., Kirby, J., Kuzma-Kozakiewicz, M., Amador, M. D. M., Mora, J. S., ... Otto, M. (Accepted/In press). Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-10. https://doi.org/10.3109/21678421.2016.1167913