期刊
INTERNAL MEDICINE
卷 47, 期 23, 页码 2067-2072出版社
JAPAN SOC INTERNAL MEDICINE
DOI: 10.2169/internalmedicine.47.1391
关键词
CADASIL; Notch3; EGF-like repeat; cysteine; white matter lesion; GOM
资金
- Ministry of Health, Labour and Welfare of Japan
Most previously reported mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) result in an odd number of cysteine residues within the epidermal growth factor (EGF)-like repeats in Notch3. We report here R75P mutation in two Japanese CADASIL families not directly involving cysteine residues located within the first EGF-like repeats. Probands in both families had repeated episodes of stroke, depression, dementia as well as T2 high-intensity lesions in the basal ganglia and periventricular white matter, but fewer white matter lesions in the temporal pole on MRI. These families provide new insights into the diagnosis and pathomechanisms of CADASIL.
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