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Article

Association of NOTCH3 Variant Position With Stroke Onset and Other Clinical Features Among Patients With CADASIL.

Neurology - 1 Aug 2022

Cho Bernard P H, Jolly Amy A, Nannoni Stefania, Tozer Daniel, Bell Steven, Markus Hugh S

Abstract excerpt

BACKGROUND AND OBJECTIVES: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by a cysteine-altering variant in 1 of the 34 epidermal growth factor-like repeat (EGFR) domains of the NOTCH3 protein. CADASIL has a variable phenotypic presentation, and NOTCH3 variants in EGFRs 1-6 have been found correlated with greater disease severity. We examined...

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Topics

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

Share to Magnetic Resonance Imaging

Share to Protein Aggregates

Share to Receptor, Notch3

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Source

Open in PubMed Open full text

Identifiers

PMID: 35641310
DOI: 10.1212/WNL.0000000000200744
PMCID: PMC9421602

Genes

NOTCH3
EGFR

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.

Related research

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Research trail→

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Association of NOTCH3 Variant Position With Stroke Onset and Other Clinical Features Among Patients With CADASIL.PMID 35641310Read ↗

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Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.Semantic proximity Read ↗

Genotype-phenotype correlations and effect of mutation location in Japanese CADASIL patients.Semantic proximity Read ↗

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

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