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  • Title: [Japanese CADASIL case with limited dementia who had the Notch 3 R141C mutation].
    Author: Ishibashi K, Murata T, Miki Y, Hara M, Mori H.
    Journal: No To Shinkei; 2005 May; 57(5):415-8. PubMed ID: 15981641.
    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 caused by point mutations of the Notch 3 gene. Here, we report a Japanese CADASIL case who displayed limited dementia and had the Notch 3 R141C mutation. The relationship between pathogenesis and the mutation site in Notch 3 is discussed based on the case presented here.
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