Comparison of CSF and serum neurofilament light and heavy chain as differential diagnostic biomarkers for ALS
- 20 August 2021
- journal article
- research article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 93 (1), 68-74
- https://doi.org/10.1136/jnnp-2021-327129
Abstract
Objective Elevated levels of neurofilament light (NfL) and heavy (NfH) chain in amyotrophic lateral sclerosis (ALS) cerebrospinal fluid (CSF) and serum reflect neuro-axonal degeneration and are used as diagnostic biomarkers. However, studies comparing the differential diagnostic potential for ALS of all four parameters are missing. Here, we measured serum NfL/NfH and CSF NfL/NfH in a large cohort of ALS and other neurological disorders and analysed the differential diagnostic potential. Methods In total CSF and serum of 294 patients were analysed. The diagnostic groups comprised: ALS (n=75), frontotemporal lobar degeneration (FTLD) (n=33), Alzheimer’s disease (n=20), Parkinson’s disease (dementia) (n=18), Creutzfeldt-Jakob disease (n=11), non-neurodegenerative controls (n=77) (Con) and 60 patients who were seen under the direct differential diagnosis of a patient with ALS (Con.DD). Results CSF and serum NfL and NfH showed significantly increased levels in ALS (pConclusion Our results demonstrate that CSF NfL and NfH as well as serum NfL are equally suited for the differential diagnosis of ALS, whereas serum NfH appears to be slightly less potent.Funding Information
- foundation of the state Baden-Württemberg (D.3830)
- EU Joint Programme-Neurodegenerative Diseases networks Genfi-Prox (01ED2008A)
- EU (Moodmarker) program (01EW2008)
- Boehringer Ingelheim Ulm University BioCenter (D.5009)
- Fondation Thierry Latran (D.2468)
- German Federal Ministry of Education and Research (FTLDc 01GI1007A)
- Deutsche Forschungsgemeinschaft (SFB1279)
- ALS Association (D.5809)
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