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

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 NOT...

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Autores principales: Ebihara, Yuka, Mochizuki, Hitoshi, Ishii, Nobuyuki, Mizuta, Ikuko, Shiomi, Kazutaka, Mizuno, Toshiki, Nakazato, Masamitsu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232040/
https://www.ncbi.nlm.nih.gov/pubmed/29780132
http://dx.doi.org/10.2169/internalmedicine.0723-17
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author Ebihara, Yuka
Mochizuki, Hitoshi
Ishii, Nobuyuki
Mizuta, Ikuko
Shiomi, Kazutaka
Mizuno, Toshiki
Nakazato, Masamitsu
author_facet Ebihara, Yuka
Mochizuki, Hitoshi
Ishii, Nobuyuki
Mizuta, Ikuko
Shiomi, Kazutaka
Mizuno, Toshiki
Nakazato, Masamitsu
author_sort Ebihara, Yuka
collection PubMed
description 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 subcortical infarcts and leukoencephalopathy (CADASIL). Exon 24 mutations are rather rare and this represents the first Japanese case of CADASIL.
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spelling pubmed-62320402018-11-13 A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene Ebihara, Yuka Mochizuki, Hitoshi Ishii, Nobuyuki Mizuta, Ikuko Shiomi, Kazutaka Mizuno, Toshiki Nakazato, Masamitsu Intern Med Case Report 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 subcortical infarcts and leukoencephalopathy (CADASIL). Exon 24 mutations are rather rare and this represents the first Japanese case of CADASIL. The Japanese Society of Internal Medicine 2018-05-18 2018-10-15 /pmc/articles/PMC6232040/ /pubmed/29780132 http://dx.doi.org/10.2169/internalmedicine.0723-17 Text en Copyright © 2018 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Ebihara, Yuka
Mochizuki, Hitoshi
Ishii, Nobuyuki
Mizuta, Ikuko
Shiomi, Kazutaka
Mizuno, Toshiki
Nakazato, Masamitsu
A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene
title A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene
title_full A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene
title_fullStr A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene
title_full_unstemmed A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene
title_short A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene
title_sort japanese case of cadasil with a rare mutation in exon 24 of the notch3 gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232040/
https://www.ncbi.nlm.nih.gov/pubmed/29780132
http://dx.doi.org/10.2169/internalmedicine.0723-17
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