PT  - JOURNAL ARTICLE
AU  - Federico Verde
AU  - Petra Steinacker
AU  - Jochen H Weishaupt
AU  - Jan Kassubek
AU  - Patrick Oeckl
AU  - Steffen Halbgebauer
AU  - Hayrettin Tumani
AU  - Christine A F von Arnim
AU  - Johannes Dorst
AU  - Emily Feneberg
AU  - Benjamin Mayer
AU  - Hans-Peter Müller
AU  - Martin Gorges
AU  - Angela Rosenbohm
AU  - Alexander E Volk
AU  - Vincenzo Silani
AU  - Albert C Ludolph
AU  - Markus Otto
TI  - Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis
AID  - 10.1136/jnnp-2018-318704
DP  - 2019 Feb 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 157--164
VI  - 90
IP  - 2
4099  - http://jnnp.bmj.com/content/90/2/157.short
4100  - http://jnnp.bmj.com/content/90/2/157.full
SO  - J Neurol Neurosurg Psychiatry2019 Feb 01; 90
AB  - 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.