Two Japanese CADASIL Families with a R141C Mutation in the Notch3 Gene.

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  • MURAKAMI Tetsuro
    the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry
  • IWATSUKI Kaori
    the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry
  • HAYASHI Takeshi
    the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry
  • SATO Keiko
    the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry
  • MATSUBARA Etsuro
    the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry
  • NAGANO Isao
    the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry
  • MANABE Yasuhiro
    the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry
  • SHOJI Mikio
    the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry
  • ABE Koji
    the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary disease characterized by recurrent transient ischemic attacks (TIA) and strokes, and vascular dementia with Notch3 gene mutations as the cause of the disease. To date, there are only a few Japanese families ever reported with a mutation in the gene. Here, we report two more Japanese CADASIL families carrying a missense mutation in the Notch3 gene (R141C) with a unique lesion in the corpus callosum. This is the first report of two unrelated Japanese CADASIL families with a R141C mutation in the Notch3 gene. Although the disease is very rare among the Japanese population, our result suggests a possible relationship of this particular mutation (R141C) with the lesions of the corpus callosum.<br>(Internal Medicine 40: 1144-1148, 2001)

収録刊行物

  • Internal Medicine

    Internal Medicine 40 (11), 1144-1148, 2001

    一般社団法人 日本内科学会

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