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Article

A novel heterozygous mutation in the NOTCH3 gene causing CADASIL.

Swiss medical weekly - 18 Oct 2008

Andreadou Elisabeth, Papadimas Ggeorge, Sfagos Constantinos

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an identifiable cause of inherited stroke among young adults, characterised by diffuse leukoencephalopathy with prominent involvement of the temporal poles and external capsule. The disease is caused by mutations in the NOTCH3 gene encoding a NOTCH3 receptor protein. The clinical course is relentlessly...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18941948
DOI: 10.4414/smw.2008.12394

Genes

NOTCH3

Variants

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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A novel heterozygous mutation in the NOTCH3 gene causing CADASIL.PMID 18941948Read ↗

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A Novel Heterozygous Variant in Exon 19 of NOTCH3 in a Saudi Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.Semantic proximity Read ↗

CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

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