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Article

Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors.

Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism - 1 Jan 2023

Dupé Charlotte, Guey Stéphanie, Biard Lucie, Dieng Sokhna, Lebenberg Jessica, Grosset Lina, Alili Nassira, Hervé Dominique, Tournier-Lasserve Elisabeth, Jouvent Eric, Chevret Sylvie, Chabriat Hugues

Abstract excerpt

The recent discovery that the prevalence of cysteine mutations in the NOTCH3 gene responsible for CADASIL was more than 100 times higher in the general population than that estimated in patients highlighted that the mutation location in EGFr-like-domains of the NOTCH3 receptor could have a major effect on the phenotype of the disease. The exact impact of such mutations locations on the multiple facets of the...

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Share to CADASIL
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebrovascular and genetic disorders

Share to Metalloenzymes and iron-sulfur proteins

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Source

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Identifiers

PMID: 36254369
DOI: 10.1177/0271678X221126280
PMCID: PMC9875352

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors.PMID 36254369Read ↗

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