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Article

A novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not?

Journal of neurology - 1 Jun 2018

Schubert V, Bender B, Kinzel M, Peters N, Freilinger T

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) represents the most common monogenic cause of adult-onset ischemic stroke and vascular dementia. It is caused by heterozygous missense mutations in the NOTCH3 gene, encoding a transmembrane receptor protein on vascular smooth muscle cells. Classical CADASIL mutations affect conserved cysteine residues of the...

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Source

Identifiers

PMID: 29600389
DOI: 10.1007/s00415-018-8844-5

Genes

NOTCH3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

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A novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not?PMID 29600389Read ↗

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

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

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 ↗

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

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

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

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

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

Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.Semantic proximity Read ↗

The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome.Semantic proximity Read ↗

Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.Semantic proximity Read ↗

Not Described Variant of Notch3 Gen for Cadasil Disease.Semantic proximity Read ↗

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