Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis. Issue 2 (11th October 2018)

• Record Type: Journal Article
• Authors: Verde, Federico; Steinacker, Petra; Weishaupt, Jochen H; Kassubek, Jan; Oeckl, Patrick; Halbgebauer, Steffen; Tumani, Hayrettin; von Arnim, Christine A F; Dorst, Johannes; Feneberg, Emily; Mayer, Benjamin; Müller, Hans-Peter; Gorges, Martin; Rosenbohm, Angela; Volk, Alexander E; Silani, Vincenzo; Ludolph, Albert C; Otto, Markus
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 90:Issue 2(2019)
• Page Start: 157
• Page End: 164
• Publication Date: 2018-10-11
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2018-318704
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : Objective: To determine the diagnostic and prognostic performance of serum neurofilament light chain (NFL) in amyotrophic lateral sclerosis (ALS). Methods: This 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. Results: Serum 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. Conclusions: Serum 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.