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一例日本的伴有NOTCH3基因第24外显子罕见突变的大脑常染色体显性动脉病伴皮质下梗死和白质脑病（CADASIL）病例。

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

作者信息

Ebihara Yuka, Mochizuki Hitoshi, Ishii Nobuyuki, Mizuta Ikuko, Shiomi Kazutaka, Mizuno Toshiki, Nakazato Masamitsu

机构信息

Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, University of Miyazaki, Japan.

Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan.

出版信息

Intern Med. 2018 Oct 15;57(20):3011-3014. doi: 10.2169/internalmedicine.0723-17. Epub 2018 May 18.

DOI:10.2169/internalmedicine.0723-17
PMID:29780132
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6232040/
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.

摘要

一名有中风和抑郁症家族史的50岁男性逐渐出现脑部病变。磁共振成像显示，在T2加权成像上，弥漫性白质、外囊和颞极有高信号病变。检测到NOTCH3基因第24外显子存在杂合突变c.3879C>G（p.Cys1293Trp），确诊为伴有皮质下梗死和白质脑病的大脑常染色体显性动脉病（CADASIL）。第24外显子突变相当罕见，这是日本首例CADASIL病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fbb3/6232040/77472d2506fe/1349-7235-57-3011-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fbb3/6232040/98168f182af7/1349-7235-57-3011-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fbb3/6232040/77472d2506fe/1349-7235-57-3011-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fbb3/6232040/98168f182af7/1349-7235-57-3011-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fbb3/6232040/77472d2506fe/1349-7235-57-3011-g002.jpg

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Neurol Sci. 2022 Feb;43(2):1457-1458. doi: 10.1007/s10072-021-05706-0. Epub 2021 Nov 5.

本文引用的文献

1
New diagnostic criteria for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukocencephalopathy in Japan.日本脑常染色体显性动脉病伴皮质下梗死和白质脑病的新诊断标准。
J Neurol Sci. 2017 Oct 15;381:62-67. doi: 10.1016/j.jns.2017.08.009. Epub 2017 Aug 8.
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Recurrent transient global amnesia as presenting symptoms of CADASIL.复发性短暂性全面性遗忘症作为大脑常染色体显性动脉病伴皮质下梗死和白质脑病（CADASIL）的症状表现。
Clin Case Rep. 2016 Sep 28;4(11):1045-1048. doi: 10.1002/ccr3.666. eCollection 2016 Nov.
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Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
NOTCH3 突变在 CADASIL 诊断中的解读。
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Cadasil.伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病
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Neurology. 1999 Apr 22;52(7):1361-7. doi: 10.1212/wnl.52.7.1361.
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Patterns of MRI lesions in CADASIL.伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）的磁共振成像（MRI）病变模式
Neurology. 1998 Aug;51(2):452-7. doi: 10.1212/wnl.51.2.452.
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Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.CADASIL患者中Notch3突变的强烈聚集性和刻板性。
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Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）中的Notch3突变，这是一种导致中风和痴呆的遗传性成人发病疾病。
Nature. 1996 Oct 24;383(6602):707-10. doi: 10.1038/383707a0.