• J. Neurol. Neurosurg. Psychiatr. · Feb 2019

    Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis.

    • Federico Verde, Petra Steinacker, Jochen H Weishaupt, Jan Kassubek, Patrick Oeckl, Steffen Halbgebauer, Hayrettin Tumani, von Arnim Christine A F CAF Department of Neurology, University of Ulm, Ulm, Germany., Johannes Dorst, Emily Feneberg, Benjamin Mayer, Hans-Peter Müller, Martin Gorges, Angela Rosenbohm, Alexander E Volk, Vincenzo Silani, Albert C Ludolph, and Markus Otto.
    • Department of Neurology, University of Ulm, Ulm, Germany.
    • J. Neurol. Neurosurg. Psychiatr. 2019 Feb 1; 90 (2): 157-164.

    ObjectiveTo determine the diagnostic and prognostic performance of serum neurofilament light chain (NFL) in amyotrophic lateral sclerosis (ALS).MethodsThis single-centre, prospective, longitudinal study included the following patients: 124 patients with ALS; 50 patients without neurodegenerative diseases; 44 patients with conditions included in the differential diagnosis of ALS (disease controls); 65 patients with other neurodegenerative diseases (20 with frontotemporal dementia, 20 with Alzheimer's disease, 19 with Parkinson's disease, 6 with Creutzfeldt-Jakob disease (CJD)). Serum NFL levels were measured using the ultrasensitive single molecule array (Simoa) technology.ResultsSerum NFL levels were higher in ALS in comparison to all other categories except for CJD. A cut-off level of 62 pg/mL discriminated between ALS and all other conditions with 85.5% sensitivity (95% CI 78% to 91.2%) and 81.8% specificity (95% CI 74.9% to 87.4%). Among patients with ALS, serum NFL correlated positively with disease progression rate (rs=0.336, 95% CI 0.14 to 0.506, p=0.0008), and higher levels were associated with shorter survival (p=0.0054). Serum NFL did not differ among patients in different ALS pathological stages as evaluated by diffusion-tensor imaging, and in single patients NFL levels were stable over time.ConclusionsSerum NFL is increased in ALS in comparison to other conditions and can serve as diagnostic and prognostic biomarker. We established a cut-off level for the diagnosis of ALS.© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.

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