Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene
Yuka EbiharaHitoshi MochizukiNobuyuki IshiiIkuko MizutaKazutaka ShiomiToshiki MizunoMasamitsu Nakazato
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JOURNALS OPEN ACCESS Advance online publication

Article ID: 0723-17

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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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