A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene

被引：3

作者：

Ebihara, Yuka ^{[1
]}

Mochizuki, Hitoshi ^{[1
]}

Ishii, Nobuyuki ^{[1
]}

Mizuta, Ikuko ^{[2
]}

Shiomi, Kazutaka ^{[1
]}

Mizuno, Toshiki ^{[2
]}

Nakazato, Masamitsu ^{[1
]}

机构：

[1] Univ Miyazaki, Div Neurol Respirol Endocrinol & Metab, Dept Internal Med, Miyazaki, Miyazaki, Japan

[2] Kyoto Prefectural Univ Med, Dept Neurol, Grad Sch Med Sci, Kyoto, Japan

来源：

INTERNAL MEDICINE | 2018年 / 57卷 / 20期

关键词：

autosomal dominant arteriopathy; leukoencephalopathy; CADASIL; NOTCH3; exon; 24; AUTOSOMAL-DOMINANT ARTERIOPATHY; SUBCORTICAL INFARCTS; MRI;

D O I：

10.2169/internalmedicine.0723-17

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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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收藏

页码：3011 / 3014

页数：4

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