p.Arg332Cys Mutation of NOTCH3 Gene in Two Unrelated Japanese Families with CADASIL
p.Arg332Cys Mutation of NOTCH3 Gene in Two Unrelated Japanese Families with CADASIL
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DOI：
10.2169/internalmedicine.50.5418
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发表时间：
2011-01-01
影响因子：
1.2
通讯作者：
Kanda, Takashi
中科院分区：
文献类型：
--
作者：
Sano, Yasuteru;Shimizu, Fumitaka;Kanda, Takashi
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是一种由NOTCH 3突变引起的脑血管疾病，通常位于外显子3和4。本报告描述了两个不相关的日本家庭谁共享一个共同的p.Arg332Cys突变的2例受试者的临床和神经放射学结果。家族A的受试者在病程开始时以晕厥发作为唯一临床表现。来自家族B的受试者表现出复发性缺血发作，随后出现大量颅内出血。这是第一份报告，以描述在日本的一个罕见的p.Arg332Cys突变的患者的详细表型。
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is a cerebrovasuclar disease caused by NOTCH3 mutations, usually localized to exons 3 and 4. This report describes the clinical and neuroradiological findings of 2 subjects of two unrelated Japanese families who shared a common p.Arg332Cys mutation. The subject from family A presented syncope attacks as the sole clinical presentation at the beginning of his disease course. The subject from family B showed recurrent ischemic attacks, followed by a large intracranial hemorrhage. This is the first report to describe the detailed phenotypes of patients with a rare p.Arg332Cys mutation in Japan.