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Article

NFL and GFAP in (pre)symptomatic RVCL-S carriers: a monogenic cerebral small vessel disease.

Journal of neurology - 1 Jul 2024

Wilms Annelise E, de Boer I, Pelzer N, In't Veld S G J G, Middelkoop H A M, Teunissen C E, Terwindt G M

Abstract excerpt

BACKGROUND: Neurofilament 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). METHODS: NfL and GFAP levels of 17 pre-symptomatic, 22 symptomatic RVCL-S mutation carriers and 69 controls were...

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Identifiers

PMID: 38581544
DOI: 10.1007/s00415-024-12292-6
PMCID: PMC11233383

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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