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Article

NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature.

Neuropathology and applied neurobiology - 1 Feb 2022

Gravesteijn Gido, Hack Remco J, Mulder Aat A, Cerfontaine Minne N, van Doorn Remco, Hegeman Ingrid M, Jost Carolina R, Rutten Julie W, Lesnik Oberstein Saskia A J

Abstract excerpt

AIMS: CADASIL, the most prevalent hereditary cerebral small vessel disease, is caused by cysteine-altering NOTCH3 variants (NOTCH3cys ) leading to vascular NOTCH3 protein aggregation. It has recently been shown that variants located in one of NOTCH3 protein epidermal growth-factor like repeat (EGFr) domains 1-6, are associated with a more severe phenotype than variants located in one of the EGFr domains 7-34. The...

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Identifiers

PMID: 34297860
DOI: 10.1111/nan.12751
PMCID: PMC9291091

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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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