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Article

De novo mutation in the NOTCH3 gene causing CADASIL.

Bosnian journal of basic medical sciences - 1 Feb 2014

Stojanov Dragan, Grozdanović Danijela, Petrović Sladjana, Benedeto-Stojanov Daniela, Stefanović Ivan, Stojanović Nebojša, Ilić Dušica N

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is one of the most common hereditary forms of stroke, and migraine with aura, mood disorders and dementia. CADASIL is caused by mutations of the NOTCH3 gene. This mutation is inherited as an autosomal dominant trait. Most individuals with CADASIL have a parent with the disorder. In extremely rare cases, CADASIL...

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Identifiers

PMID: 24579972
DOI: 10.17305/bjbms.2014.2297
PMCID: PMC4333945

Genes

NOTCH3

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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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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