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Article

First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family.

Journal of neurology - 1 Sept 2011

Valenti Raffaella, Bianchi Silvia, Pescini Francesca, D'Eramo Camilla, Inzitari Domenico, Dotti Maria Teresa, Pantoni Leonardo

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetically transmitted small vessel disease clinically characterized by migraine, recurrent subcortical strokes, and cognitive and mood disorders. Pathogenic mutations are located on any of the exons of the NOTCH3 gene coding for epidermal-growth factor (EGF)-like repeats of the extracellular domain of the...

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Source

Identifiers

PMID: 21409506
DOI: 10.1007/s00415-011-5983-3

Genes

NOTCH3
EGF

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family.PMID 21409506Read ↗

A novel report of Cys1298Gly mutation in exon 24 of NOTCH3 gene in a Chinese family with CADASIL.Semantic proximity Read ↗

A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient.Semantic proximity Read ↗

Novel mutation of NOTCH3 gene in a Chinese Patient with CADASIL: A case reportSemantic proximity Read ↗

CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.Semantic proximity Read ↗

A novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not?Semantic proximity Read ↗

Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL.Semantic proximity Read ↗

NOTCH3 gene mutations in subjects clinically suspected of CADASIL.Semantic proximity Read ↗

A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene.Semantic proximity Read ↗

Mutational screening of NOTCH3 gene reveals two novel mutations: complexity of CADASIL diagnosis.Semantic proximity Read ↗

A novel CADASIL-causing mutation in a stroke patient.Semantic proximity Read ↗

A novel heterozygous mutation in the NOTCH3 gene causing CADASIL.Semantic proximity Read ↗

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.Semantic proximity Read ↗

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