Journal
SCIENTIFIC REPORTS
Volume 11, Issue 1, Pages -Publisher
NATURE PORTFOLIO
DOI: 10.1038/s41598-021-01499-6
Keywords
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Categories
Funding
- Umea University
- Swedish Brain Foundation [2012-0262, 2012-0305, 2013-0279, 2016-0303, 2020-0353]
- Swedish Research Council [2018-02532, 2012-3167, 2017-03100]
- Knut and Alice Wallenberg Foundation [2012.0091, 2014.0305, 2020.0232]
- Bertil Hallsten Foundation
- Ulla-Carin Lindquist Foundation
- Neuroforbundet Association
- Torsten and Ragnar Soderberg Foundation
- Umea University Insamlingsstiftelsen [223-2808-12, 223-1881-13, 2.1.12-1605-14]
- Vasterbotten County Council [56103-7002829]
- Swedish Brain Power
- Queen Victoria's Freemason's Foundation
- Alzheimer Drug Discovery Foundation (ADDF), USA [201809-2016862, RDAPB-201809-2016615]
- Swedish Alzheimer Foundation [AF-742881]
- Hjarnfonden, Sweden [FO2019-0228]
- Swedish government [ALFGBG-715986]
- European Union Joint Program for Neurodegenerative Disorders [JPND2019-466-236]
- European Research Council [681712]
- Swedish State Support for Clinical Research [ALFGBG-720931]
- AD Strategic Fund
- Alzheimer's Association [ADSF-21-831376-C, ADSF-21-831381-C, ADSF-21-831377-C]
- Olav Thon Foundation
- Erling-Persson Family Foundation
- Stiftelsen for Gamla Tjanarinnor, Hjarnfonden, Sweden [FO2019-0228]
- European Union's Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant [860197]
- UK Dementia Research Institute at UCL
- Vasternorrland County Council [LVNFOU939000]
- Vasterbotten County Council
- MIROCALS project from the European Union's Horizon 2020 research and innovation program [633413]
- Swedish County Councils, the ALF agreement [ALFGBG-715986]
- H2020 Societal Challenges Programme [633413] Funding Source: H2020 Societal Challenges Programme
- MRC [UKDRI-1003] Funding Source: UKRI
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Elevated levels of CSF NFL, CSF pNFH, and plasma NFL are significantly associated with ALS, providing diagnostic value in differentiating ALS from other neurological diseases. Plasma NFL levels can help differentiate between clinical and genetic subgroups of ALS. Survival rate is negatively correlated with all three biomarkers.
Delayed diagnosis and misdiagnosis are frequent in people with amyotrophic lateral sclerosis (ALS), the most common form of motor neuron disease (MND). Neurofilament light chain (NFL) and phosphorylated neurofilament heavy chain (pNFH) are elevated in ALS patients. We retrospectively quantified cerebrospinal fluid (CSF) NFL, CSF pNFH and plasma NFL in stored samples that were collected at the diagnostic work-up of ALS patients (n = 234), ALS mimics (n = 44) and controls (n = 9). We assessed the diagnostic performance, prognostication value and relationship to the site of onset and genotype. CSF NFL, CSF pNFH and plasma NFL levels were significantly increased in ALS patients compared to patients with neuropathies & myelopathies, patients with myopathies and controls. Furthermore, CSF pNFH and plasma NFL levels were significantly higher in ALS patients than in patients with other MNDs. Bulbar onset ALS patients had significantly higher plasma NFL levels than spinal onset ALS patients. ALS patients with C9orf72HRE mutations had significantly higher plasma NFL levels than patients with SOD1 mutations. Survival was negatively correlated with all three biomarkers. Receiver operating characteristics showed the highest area under the curve for CSF pNFH for differentiating ALS from ALS mimics and for plasma NFL for estimating ALS short and long survival. All three biomarkers have diagnostic value in differentiating ALS from clinically relevant ALS mimics. Plasma NFL levels can be used to differentiate between clinical and genetic ALS subgroups.
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