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Article

[A new Spanish family with CADASIL associated with 346C>T mutation of NOTCH3 gene].

Neurologia (Barcelona, Spain) - 1 Sept 2007

Avila A, Bello J, Maho P, Gómez M I

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult-onset inherited condition characterized by migraine, recurrent strokes, and subcortical dementia. Other manifestations as psychiatric disturbances, seizures, hypoacusia or learning disorders have been reported. CADASIL may be suspected based on clinical syndrome, a positive family history, and a...

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Share to Chromosomes, Human, Pair 19
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Notch3

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Source

Identifiers

PMID: 17853970

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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[A new Spanish family with CADASIL associated with 346C>T mutation of NOTCH3 gene].PMID 17853970Read ↗

Novel Mutation of the NOTCH3 Gene in a Chinese Pedigree with CADASIL.Semantic proximity Read ↗

Clinical presentation of Y189C mutation of the NOTCH3 gene in the Polish family with CADASIL.Semantic proximity Read ↗

[Two case reports of cerebral autosomal dominant arteriophaty with subcortical infarctions and leukoencephalopathy (CADASIL)].Semantic proximity Read ↗

[Dominant autosomal cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A review].Semantic proximity Read ↗

[The hereditary vessel disease CADASIL].Semantic proximity Read ↗

A Novel Mutation Outside of the EGFr Encoding Exons of NOTCH3 Gene in a Chinese with CADASIL.Semantic proximity Read ↗

Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report.Semantic proximity Read ↗

Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Semantic proximity Read ↗

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

A CADASIL case with normal skin biopsy and without mutations in exons 3 and 4 of the Notch3 gene.Semantic proximity Read ↗

A novel NOTCH3 mutation and its clinical, neuroimaging and pathological presentation in a Chinese patient with CADASIL: A case report.Semantic proximity Read ↗

[Clinical, radiological, histopathological and genetic findings in a Danish "CADASIL" family].Semantic proximity Read ↗

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