Two Japanese CADASIL families with a R141C mutation in the Notch3 gene

T. Murakami, K. Iwatsuki, T. Hayashi, K. Sato, E. Matsubara, I. Nagano, Y. Manabe, M. Shoji, K. Abe

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1144-1148
Number of pages5
JournalInternal Medicine
Volume40
Issue number11
DOIs
Publication statusPublished - 2001

Keywords

  • Autosomal dominant
  • Hereditary infarction
  • Missense mutation

ASJC Scopus subject areas

  • Internal Medicine

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    Murakami, T., Iwatsuki, K., Hayashi, T., Sato, K., Matsubara, E., Nagano, I., Manabe, Y., Shoji, M., & Abe, K. (2001). Two Japanese CADASIL families with a R141C mutation in the Notch3 gene. Internal Medicine, 40(11), 1144-1148. https://doi.org/10.2169/internalmedicine.40.1144