Plasma neurofilament light chain as a potential biomarker in Charcot-Marie-Tooth disease.

Biomarkers Charcot-Marie-Tooth Disease / diagnosis Humans Intermediate Filaments Neurofilament Proteins Plasma ROC Curve
genetic and inherited disorders polyneuropathy

Journal

European journal of neurology
ISSN: 1468-1331
Titre abrégé: Eur J Neurol
Pays: England
ID NLM: 9506311

Informations de publication

Date de publication:
03 2021
Historique:
received: 30 09 2020
revised: 07 12 2020
accepted: 10 12 2020
pubmed: 20 12 2020
medline: 13 8 2021
entrez: 19 12 2020
Statut: ppublish

Résumé

Charcot-Marie-Tooth (CMT) disease is a chronic, slowly progressing disorder. The lack of specific disease progression biomarkers limits the execution of clinical trials. However, neurofilament light chain (NfL) has been suggested as a potential biomarker for peripheral nervous system disorders. Ninety-six CMT disease patients and 60 healthy controls were enrolled in the study. Disease severity assessment included clinical evaluation with CMT Neuropathy Score version 2 (CMTNSv2). Blood plasma NfL concentrations were measured using the single-molecule array NfL assay. The NfL concentration was significantly higher in the CMT disease patient group than in the controls (p < 0.001). Of the CMT disease patients, those with type CMTX1 had a higher NfL level than those in the two other analysed subgroups (CMT1A and other CMT disease types) (p = 0.0498). The NfL concentration had a significant but weak correlation with the CMTNSv2 (r Our study confirmed that the plasma NfL concentration is significantly higher in CMT disease patients than in controls. Plasma NfL concentration was found to significantly, albeit weakly, reflect the clinical severity of CMT disease. In the future, NfL may be used, either individually or collaboratively, as a biomarker in the clinical context of suspected CMT disease; however, several issues need to be addressed first.

Sections du résumé

BACKGROUND AND PURPOSE
Charcot-Marie-Tooth (CMT) disease is a chronic, slowly progressing disorder. The lack of specific disease progression biomarkers limits the execution of clinical trials. However, neurofilament light chain (NfL) has been suggested as a potential biomarker for peripheral nervous system disorders.
METHODS
Ninety-six CMT disease patients and 60 healthy controls were enrolled in the study. Disease severity assessment included clinical evaluation with CMT Neuropathy Score version 2 (CMTNSv2). Blood plasma NfL concentrations were measured using the single-molecule array NfL assay.
RESULTS
The NfL concentration was significantly higher in the CMT disease patient group than in the controls (p < 0.001). Of the CMT disease patients, those with type CMTX1 had a higher NfL level than those in the two other analysed subgroups (CMT1A and other CMT disease types) (p = 0.0498). The NfL concentration had a significant but weak correlation with the CMTNSv2 (r
CONCLUSIONS
Our study confirmed that the plasma NfL concentration is significantly higher in CMT disease patients than in controls. Plasma NfL concentration was found to significantly, albeit weakly, reflect the clinical severity of CMT disease. In the future, NfL may be used, either individually or collaboratively, as a biomarker in the clinical context of suspected CMT disease; however, several issues need to be addressed first.

Identifiants

DOI: 10.1111/ene.14689 PMID: 33340200
pubmed: 33340200
doi: 10.1111/ene.14689
doi:

Substances chimiques

Biomarkers 0
Neurofilament Proteins 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

974-981

Subventions

Organisme : European Research Council
ID : #681712
Pays : International

Informations de copyright

© 2020 European Academy of Neurology.

Références

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Auteurs

Elina Millere (E)

Department of Neurology and Neurosurgery, Children's Clinical University Hospital, Riga, Latvia.
Department of Doctoral Studies, Riga Stradins University, Riga, Latvia.
ORCID: 0000-0001-5387-122X

Dmitrijs Rots (D)

Scientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, Latvia.

Joel Simrén (J)

Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Mölndal, Sweden.
Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.

Nicholas J Ashton (NJ)

Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Mölndal, Sweden.
Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.

Einars Kupats (E)

Department of Neurology, Riga East Clinical University Hospital, Riga, Latvia.

Ieva Micule (I)

Clinic of Medical Genetics and Prenatal Diagnostics, Children's Clinical University Hospital, Riga, Latvia.

Viktorija Priedite (V)

BIOCON Laboratory, Riga, Latvia.

Natalja Kurjane (N)

Department of Biology and Microbiology, Riga Stradins University, Riga, Latvia.
Outpatient Service Centre, Pauls Stradins Clinical University Hospital, Riga, Latvia.

Kaj Blennow (K)

Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Mölndal, Sweden.
Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.

Linda Gailite (L)

Scientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, Latvia.

Henrik Zetterberg (H)

Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Mölndal, Sweden.
Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.
Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
UK Dementia Research Institute, UCL, London, UK.

Viktorija Kenina (V)

Department of Biology and Microbiology, Riga Stradins University, Riga, Latvia.
Rare Disease Centre, Riga East Clinical University Hospital, Riga, Latvia.

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Classifications MeSH

questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Plasma neurofilament light chain as a...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Neuropathie héréditaire motrice et sensitive › Maladie de Charcot-Marie-Tooth › Plasma neurofilament light chain as a...
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questionsmedicales.fr › Cellules › Structures cellulaires › Espace intracellulaire › Cytoplasme › Structures cytoplasmiques › Cytosquelette › Filaments intermédiaires › Plasma neurofilament light chain as a...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Protéines neurofilamenteuses › Plasma neurofilament light chain as a...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Sang › Plasma sanguin › Plasma neurofilament light chain as a...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Méthodologie en recherche épidémiologique › Courbe ROC › Plasma neurofilament light chain as a...