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

DOI Web Site 参考文献24件
  • Sano Yasuteru
    Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan
  • Shimizu Fumitaka
    Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan
  • Kawai Motoharu
    Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan
  • Omoto Masatoshi
    Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan
  • Negoro Kiyoshi
    Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan
  • Kurokawa Tetsu
    Department of Neurosurgery and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan
  • Fujisawa Hirosuke
    Department of Neurosurgery and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan
  • Suzuki Michiyasu
    Department of Neurosurgery and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan
  • Okayama Naoko
    Division of Medical Genetics, Yamaguchi University Hospital, Japan
  • Suehiro Yutaka
    Division of Medical Genetics, Yamaguchi University Hospital, Japan
  • Hinoda Yuji
    Division of Medical Genetics, Yamaguchi University Hospital, Japan
  • Kanda Takashi
    Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan

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抄録

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.<br>

収録刊行物

  • Internal Medicine

    Internal Medicine 50 (22), 2833-2838, 2011

    一般社団法人 日本内科学会

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