Neurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics

Abstract 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 quanti...

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Autores principales:	Arvin Behzadi, Fani Pujol-Calderón, Anton E. Tjust, Anna Wuolikainen, Kina Höglund, Karin Forsberg, Erik Portelius, Kaj Blennow, Henrik Zetterberg, Peter Munch Andersen
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/70da27f2754d45be8616d776ba5ad46a
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spelling	oai:doaj.org-article:70da27f2754d45be8616d776ba5ad46a2021-11-14T12:22:52ZNeurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics10.1038/s41598-021-01499-62045-2322https://doaj.org/article/70da27f2754d45be8616d776ba5ad46a2021-11-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-01499-6https://doaj.org/toc/2045-2322Abstract 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.Arvin BehzadiFani Pujol-CalderónAnton E. TjustAnna WuolikainenKina HöglundKarin ForsbergErik PorteliusKaj BlennowHenrik ZetterbergPeter Munch AndersenNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Arvin Behzadi Fani Pujol-Calderón Anton E. Tjust Anna Wuolikainen Kina Höglund Karin Forsberg Erik Portelius Kaj Blennow Henrik Zetterberg Peter Munch Andersen Neurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics
description	Abstract 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.
format	article
author	Arvin Behzadi Fani Pujol-Calderón Anton E. Tjust Anna Wuolikainen Kina Höglund Karin Forsberg Erik Portelius Kaj Blennow Henrik Zetterberg Peter Munch Andersen
author_facet	Arvin Behzadi Fani Pujol-Calderón Anton E. Tjust Anna Wuolikainen Kina Höglund Karin Forsberg Erik Portelius Kaj Blennow Henrik Zetterberg Peter Munch Andersen
author_sort	Arvin Behzadi
title	Neurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics
title_short	Neurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics
title_full	Neurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics
title_fullStr	Neurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics
title_full_unstemmed	Neurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics
title_sort	neurofilaments can differentiate als subgroups and als from common diagnostic mimics
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/70da27f2754d45be8616d776ba5ad46a
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Neurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics

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