ArticleJournal of neurology2024
NFL and GFAP in (pre)symptomatic RVCL-S carriers: a monogenic cerebral small vessel disease.
Article in Journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 6 citations in OpenAlex.
- Human biomarker navigator.iMeta · 2026Review
- Biomarker advancements in cerebral small vessel disease: An overview.Neural regeneration research · 2026Article
- The interplay between neuroinflammation and endothelial dysfunction in cerebral small vessel disease.Frontiers in immunology · 2026Review
- Article
- Monogenic causes of cerebral small vessel disease- models for vascular cognitive impairment and dementia?Current opinion in psychiatry · 2025Review
- Exploring targeted therapy in retinal vasculopathy with cerebral leukoencephalopathy: a case report and review of literature.Frontiers in immunology · 2025Review
- Roles of neuroimaging markers and biomarkers in cerebral small vessel disease and their associations with cognitive function.Frontiers in neurology · 2025Review
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 6 countries.
Funding
Abstract
backgroundNeurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) have emerged as biomarkers for cerebral small vessel disease (SVD). We investigated their role in a hereditary SVD model, retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).
methodsNfL and GFAP levels of 17 pre-symptomatic, 22 symptomatic RVCL-S mutation carriers and 69 controls were measured using a Simoa assay. We assessed the association of serum and cerebrospinal fluid (CSF) levels of NfL and GFAP with RVCL-S symptomatology and neuropsychological functioning.
resultsSerum and CSF NfL levels were higher in symptomatic RVCL-S compared to controls ≥ 45 years (33.5 pg/mL vs. 9.2 pg/mL, p < 0.01; 8.5*10 DISCUSSION: Higher levels of serum NfL and GFAP are associated with worse cognitive functioning in RVCL-S carriers and may serve as marker for disease progression. CSF NfL levels may serve as early marker as pre-symptomatic RVCL-S patients already show differences compared to young controls.
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Registered trials
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