p.Arg332Cys Mutation of NOTCH3 Gene in Two Unrelated Japanese Families with CADASIL

Yasuteru Sano; Fumitaka Shimizu; Motoharu Kawai; Masatoshi Omoto; Kiyoshi Negoro; Tetsu Kurokawa; Hirosuke Fujisawa; Michiyasu Suzuki; Naoko Okayama; Yutaka Suehiro; Yuji Hinoda; Takashi Kanda

doi:10.2169/internalmedicine.50.5418

CASE REPORTS

p.Arg332Cys Mutation of NOTCH3 Gene in Two Unrelated Japanese Families with CADASIL

Yasuteru Sano, Fumitaka Shimizu, Motoharu Kawai, Masatoshi Omoto, Kiyoshi Negoro, Tetsu Kurokawa, Hirosuke Fujisawa, Michiyasu Suzuki, Naoko Okayama, Yutaka Suehiro, Yuji Hinoda, Takashi Kanda

Author information

Yasuteru Sano
Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan
Fumitaka Shimizu
Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan
Motoharu Kawai
Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan
Masatoshi Omoto
Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan
Kiyoshi Negoro
Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan
Tetsu Kurokawa
Department of Neurosurgery and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan
Hirosuke Fujisawa
Department of Neurosurgery and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan
Michiyasu Suzuki
Department of Neurosurgery and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan
Naoko Okayama
Division of Medical Genetics, Yamaguchi University Hospital, Japan
Yutaka Suehiro
Division of Medical Genetics, Yamaguchi University Hospital, Japan
Yuji Hinoda
Division of Medical Genetics, Yamaguchi University Hospital, Japan
Takashi Kanda
Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan

Keywords: CADASIL, Notch3, syncope, intracranial hemorrhage

JOURNAL OPEN ACCESS

2011 Volume 50 Issue 22 Pages 2833-2838

DOI https://doi.org/10.2169/internalmedicine.50.5418

Details

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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