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<jats:sec><jats:title>Objective</jats:title><jats:p>To determine the diagnostic and prognostic performance of serum neurofilament light chain (NFL) in amyotrophic lateral sclerosis (ALS).</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>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 (r<jats:sub>s</jats:sub>=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.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>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.</jats:p></jats:sec>

Original publication

DOI

10.1136/jnnp-2018-318704

Type

Journal article

Journal

Journal of Neurology, Neurosurgery & Psychiatry

Publisher

BMJ

Publication Date

02/2019

Volume

90

Pages

157 - 164