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Article

Genotype-phenotype correlations in a Scottish CADASIL cohort and comparison with sporadic small vessel disease.

European stroke journal - 1 Jan 2026

Neilson Sam J, Boadu William, Sitaram Amith, Davidson Rosemarie, Moreton Fiona, Dickie David Alexander, Dawson Jesse, Muir Keith W

Abstract excerpt

INTRODUCTION: CADASIL is a monogenic inherited cerebral small vessel disease (SVD) caused by a mutation affecting the NOTCH3 gene. Mutation location appears to influence disease severity. We investigated the hypothesis that mutation location modifies phenotype by comparing a CADASIL population stratified by mutation site risk with a cohort of older people with sporadic SVD. PATIENTS AND METHODS: We included...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41614465
DOI: 10.1093/esj/23969873251381917
PMCID: PMC12866229

Genes

NOTCH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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