Oct 15, 2018
A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene.
Internal medicine (Tokyo, Japan)
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- Volume
- 57
- Number
- 20
- First page
- 3011
- Last page
- 3014
- Language
- English
- Publishing type
- Research paper (scientific journal)
- 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.
- Link information
- ID information
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- DOI : 10.2169/internalmedicine.0723-17
- ISSN : 0918-2918
- Pubmed ID : 29780132
- Pubmed Central ID : PMC6232040