[Japanese CADASIL case with limited dementia who had the Notch 3 R141C mutation].
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.
Ishibashi
Kenichi
K
Department of Neurosurgery, Graduate School of Medicine, Osaka City University.
Murata
Takaho
T
Miki
Yukio
Y
Hara
Mitsuhiro
M
Mori
Hiroshi
H
D046589:CADASIL / Q000235:genetics*; D015161:Dementia, Multi-Infarct / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D020125:Mutation, Missense; D017354:Point Mutation / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics*
D011518:Proto-Oncogene Proteins; D011956:Receptors, Cell Surface