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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Detalles Bibliográficos
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
Descripción
Sumario: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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