A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene.
A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene.
Intern Med. 2018 May 18;:
Authors: Ebihara Y, Mochizuki H, Ishii N, Mizuta I, Shiomi K, Mizuno T, Nakazato M
Abstract
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.
PMID: 29780132 [PubMed - as supplied by publisher]
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
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