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Article

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

Journal of the neurological sciences - 15 Apr 2008

Pescini Francesca, Bianchi Silvia, Salvadori Emilia, Poggesi Anna, Dotti Maria Teresa, Federico Antonio, Inzitari Domenico, Pantoni Leonardo

Abstract excerpt

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is an inherited small vessel disease causing migraine, early strokes, cognitive impairment and premature death. The disease is caused by NOTCH3 gene puntiform mutations on one of the exons coding for the epidermal-growth factor (EGF)-like repeats of the extracellular domain of the NOTCH3 receptor. Mutations have...

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Source

Identifiers

PMID: 18022198
DOI: 10.1016/j.jns.2007.10.017

Genes

NOTCH3
EGF

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient.PMID 18022198Read ↗

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

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

A new de novo Notch3 mutation causing CADASIL.Semantic proximity Read ↗

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

CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.Semantic proximity Read ↗

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

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

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

Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.Semantic proximity Read ↗

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

NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype.Semantic proximity Read ↗

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

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