Plasma neurofilament light as a promising biomarker in neuronal intranuclear inclusion disease.
Biomarker
Disease progression
Disease severity
Neurofilament light
Neuronal intranuclear inclusion disease
Journal
Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161
Informations de publication
Date de publication:
08 Jan 2024
08 Jan 2024
Historique:
received:
04
11
2023
accepted:
13
12
2023
revised:
12
12
2023
medline:
8
1
2024
pubmed:
8
1
2024
entrez:
8
1
2024
Statut:
aheadofprint
Résumé
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder lacking reliable biomarkers. This study investigates plasma protein levels as potential biomarkers of disease severity and progression in NIID. In this study, we enrolled 30 NIID patients and 36 age- and sex-matched controls, following them for 1-2 years. Plasma neurofilament light (NfL), glial fibrillary acidic protein (GFAP), ubiquitin carboxy-terminal hydrolase L1 (UCH-L1), and tau were measured using ultrasensitive single molecule array (Simoa) assays. Disease severity was evaluated with the Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment (MoCA), Activities of Daily Living (ADL), and CNS symptom counts, in addition to neuroimaging data. Our study revealed that NIID patients has significantly higher plasma NfL (median, 35.2 vs. 8.61 pg/mL, p < 0.001) and GFAP (102 vs. 79.0 pg/mL, p = 0.010) levels compared to controls, with NfL emerging as a robust diagnostic marker (AUC = 0.956). NfL levels were notably higher in acute-onset NIID (77.5 vs. 28.8 pg/mL, p = 0.001). NfL correlated strongly with disease severity, including MMSE (ρ = - 0.687, p < 0.001), MoCA (ρ = - 0.670, p < 0.001), ADL (ρ = 0.587, p = 0.001), CNS symptoms (ρ = 0.369, p = 0.045), and white matter hyperintensity volume (ρ = 0.620, p = 0.004). Higher baseline NfL (≥ 35.2 pg/mL) associated with increased ADL scores, CNS symptoms, and white matter hyperintensity at follow-up. UCH-L1 and total tau levels showed no significant differences. Our results suggested the potential of NfL as a promising biomarker of disease severity and progression in NIID.
Identifiants
pubmed: 38189920
doi: 10.1007/s00415-023-12160-9
pii: 10.1007/s00415-023-12160-9
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : National Natural Science Foundation of China
ID : U1904207
Organisme : National Natural Science Foundation of China
ID : 82171434
Organisme : Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences
ID : 2020-PT310-01
Organisme : Henan Provincial Natural Science Foundation
ID : 222300420070
Organisme : Henan Province Young and Middle-Aged Health Science and Technology Innovation Outstanding Youth Training Project
ID : YXKC2020031
Organisme : Funding for Scientific Research and Innovation Team of The First Affiliated Hospital of Zhengzhou University
ID : QNCXTD2023016
Informations de copyright
© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.
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