2018年10月15日
A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene.
Internal medicine (Tokyo, Japan)
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- 巻
- 57
- 号
- 20
- 開始ページ
- 3011
- 終了ページ
- 3014
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.2169/internalmedicine.0723-17
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.
- リンク情報
- ID情報
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- DOI : 10.2169/internalmedicine.0723-17
- ISSN : 0918-2918
- PubMed ID : 29780132
- PubMed Central 記事ID : PMC6232040