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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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.[1]

References

  1. 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, K. Intern. Med. (2001) [Pubmed]
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