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Article

A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene.

Internal medicine (Tokyo, Japan) - 15 Oct 2018

Ebihara Yuka, Mochizuki Hitoshi, Ishii Nobuyuki, Mizuta Ikuko, Shiomi Kazutaka, Mizuno Toshiki, Nakazato Masamitsu

Abstract excerpt

A 50-year-old man with a family history of stroke and depression slowly developed brain lesions. Magnetic resonance imaging revealed hyperintense lesions in the diffuse white matter, external capsules, and temporal poles on T2-weighted imaging. A heterozygous mutation c.3879C>G in exon 24 of the NOTCH3 gene (p.Cys1293Trp) was detected, confirming a diagnosis of cerebral autosomal dominant arteriopathy with...

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Source

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Identifiers

PMID: 29780132
DOI: 10.2169/internalmedicine.0723-17
PMCID: PMC6232040

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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