Two Japanese CADASIL Families with a R141C Mutation in the Notch3 Gene.
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- MURAKAMI Tetsuro
- the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry
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- IWATSUKI Kaori
- the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry
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- HAYASHI Takeshi
- the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry
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- SATO Keiko
- the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry
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- MATSUBARA Etsuro
- the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry
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- NAGANO Isao
- the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry
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- MANABE Yasuhiro
- the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry
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- SHOJI Mikio
- the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry
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- ABE Koji
- the Department of Neurology, Okayama University Graduate School of Medicine and Dentistry
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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 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.<br>(Internal Medicine 40: 1144-1148, 2001)
Journal
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- Internal Medicine
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Internal Medicine 40 (11), 1144-1148, 2001
The Japanese Society of Internal Medicine
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Details 詳細情報について
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- CRID
- 1390001204869673984
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- NII Article ID
- 10007313916
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- NII Book ID
- AA10827774
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- COI
- 1:CAS:528:DC%2BD38Xns1yqsw%3D%3D
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- ISSN
- 13497235
- 09182918
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- NDL BIB ID
- 5984759
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- PubMed
- 11757773
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- Text Lang
- en
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- Data Source
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- JaLC
- NDL
- Crossref
- PubMed
- CiNii Articles
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- Abstract License Flag
- Disallowed