• Neurology · Jun 2017

    Multicenter Study

    Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease.

    • Koen Poesen, Maxim De Schaepdryver, Beatrice Stubendorff, Benjamin Gille, Petra Muckova, Sindy Wendler, Tino Prell, Thomas M Ringer, Heidrun Rhode, Olivier Stevens, Kristl G Claeys, Goedele Couwelier, Ann D'Hondt, Nikita Lamaire, Petra Tilkin, Dimphna Van Reijen, Sarah Gourmaud, Nadin Fedtke, Bianka Heiling, Matthias Rumpel, Annekathrin Rödiger, Anne Gunkel, Otto W Witte, Claire Paquet, Rik Vandenberghe, Julian Grosskreutz, and Philip Van Damme.
    • From the Laboratory for Molecular Neurobiomarker Research (K.P., M.D.S., B.G.), Laboratory for Cognitive Neurology (R.V.) and Laboratory of Neurobiology (Center for Brain & Disease Research, VIB, Leuven) (P.V.D.), Department of Neurosciences, KU Leuven (University of Leuven); Laboratory Medicine (K.P., M.D.S.) and Department of Neurology (O.S., K.G.C., G.C., A.D., N.L., P.T., D.V.R., R.V., P.V.D.), University Hospitals Leuven, Belgium; Hans Berger Department of Neurology (B.S., T.P., T.M.R., N.F., B.H., M.R., A.R., A.G., O.W.W., J.G.) and Institute for Biochemistry (P.M., S.W., H.R.), Jena University Hospital, Germany; INSERM, U942 (S.G., C.P.), Groupe Hospitalier Lariboisière Fernand-Widal Saint-Louis, CMRR Paris Nord AP-HP, Université Paris Diderot, France. koen.poesen@uzleuven.be.
    • Neurology. 2017 Jun 13; 88 (24): 2302-2309.

    ObjectiveTo determine the diagnostic performance and prognostic value of phosphorylated neurofilament heavy chain (pNfH) and neurofilament light chain (NfL) in CSF as possible biomarkers for amyotrophic lateral sclerosis (ALS) at the diagnostic phase.MethodsWe measured CSF pNfH and NfL concentrations in 220 patients with ALS, 316 neurologic disease controls (DC), and 50 genuine disease mimics (DM) to determine and assess the accuracy of the diagnostic cutoff value for pNfH and NfL and to correlate with other clinical parameters.ResultspNfH was most specific for motor neuron disease (specificity 88.2% [confidence interval (CI) 83.0%-92.3%]). pNfH had the best performance to differentially diagnose patients with ALS from DM with a sensitivity of 90.7% (CI 84.9%-94.8%), a specificity of 88.0% (CI 75.7%-95.5%) and a likelihood ratio of 7.6 (CI 3.6-16.0) at a cutoff of 768 pg/mL. CSF pNfH and NfL levels were significantly lower in slow disease progressors, however, with a poor prognostic performance with respect to the disease progression rate. CSF pNfH and NfL levels increased significantly as function of the number of regions with both upper and lower motor involvement.ConclusionsIn particular, CSF pNfH concentrations show an added value as diagnostic biomarkers for ALS, whereas the prognostic value of pNfH and NfL warrants further investigation. Both pNfH and NfL correlated with the extent of motor neuron degeneration.Classification Of EvidenceThis study provides Class II evidence that elevated concentrations of CSF pNfH and NfL can accurately identify patients with ALS.© 2017 American Academy of Neurology.

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