Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
p.Arg332Cys Mutation of NOTCH3 Gene in Two Unrelated Japanese Families with CADASIL
Yasuteru SanoFumitaka ShimizuMotoharu KawaiMasatoshi OmotoKiyoshi NegoroTetsu KurokawaHirosuke FujisawaMichiyasu SuzukiNaoko OkayamaYutaka SuehiroYuji HinodaTakashi Kanda
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JOURNALS OPEN ACCESS

2011 Volume 50 Issue 22 Pages 2833-2838

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Abstract

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.

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© 2011 by The Japanese Society of Internal Medicine
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