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, Koji 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
Publication statusPublished - 2001

Fingerprint

CADASIL
Mutation
Corpus Callosum
Genes
Inborn Genetic Diseases
Vascular Dementia
Transient Ischemic Attack
Missense Mutation
Rare Diseases
Stroke
Population

Keywords

  • Autosomal dominant
  • Hereditary infarction
  • Missense mutation

ASJC Scopus subject areas

  • Internal Medicine

Cite this

Murakami, T., Iwatsuki, K., Hayashi, T., Sato, K., Matsubara, E., Nagano, I., ... Abe, K. (2001). Two Japanese CADASIL families with a R141C mutation in the Notch3 gene. Internal Medicine, 40(11), 1144-1148.

Two Japanese CADASIL families with a R141C mutation in the Notch3 gene. / Murakami, T.; Iwatsuki, K.; Hayashi, T.; Sato, K.; Matsubara, E.; Nagano, I.; Manabe, Y.; Shoji, M.; Abe, Koji.

In: Internal Medicine, Vol. 40, No. 11, 2001, p. 1144-1148.

Research output: Contribution to journalArticle

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, vol. 40, no. 11, pp. 1144-1148.
Murakami T, Iwatsuki K, Hayashi T, Sato K, Matsubara E, Nagano I et al. Two Japanese CADASIL families with a R141C mutation in the Notch3 gene. Internal Medicine. 2001;40(11):1144-1148.
Murakami, T. ; Iwatsuki, K. ; Hayashi, T. ; Sato, K. ; Matsubara, E. ; Nagano, I. ; Manabe, Y. ; Shoji, M. ; Abe, Koji. / Two Japanese CADASIL families with a R141C mutation in the Notch3 gene. In: Internal Medicine. 2001 ; Vol. 40, No. 11. pp. 1144-1148.
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