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

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leuk oencephalopathy (CADASIL) is a rare hereditary disease characterized by rec urrent 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. Her e, we report two more Japanese CADASIL families carrying a missense mutatio n in the Notch3 gene (R141C) with a unique lesion in the corpus callosum. T his is the first report of two unrelated Japanese CADASIL families with a R 141C mutation in the Notch3 gene. Although the disease is very rare among t he Japanese population, our result suggests a possible relationship of this particular mutation (R141C) with the lesions of the corpus callosum.