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J-GLOBAL ID：201802266922483831   Reference number：18A1987217

A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene

NOTCH3遺伝子のエキソン24における稀な突然変異を伴うCADASILの日本人症例

Author (7)： Ebihara Yuka (Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, University of Miyazaki, Japan) ,  Mochizuki Hitoshi (Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, University of Miyazaki, Japan) ,  Ishii Nobuyuki (Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, University of Miyazaki, Japan) ,  Mizuta Ikuko (Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan) ,  Shiomi Kazutaka (Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, University of Miyazaki, Japan) ,  Mizuno Toshiki (Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan) ,  Nakazato Masamitsu (Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, University of Miyazaki, Japan)
Material： Internal Medicine (Web)  (Intern Med (Web))
Volume： 57  Issue： 20  Page： 3011-3014(J-STAGE)  Publication year： 2018 
JST Material Number： U0033A  ISSN： 1349-7235  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： *CADASIL ,...

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Author keywords (5)： autosomal dominant arteriopathy ,  leukoencephalopathy ,  CADASIL ,  NOTCH3 ,  exon 24

JST classification (2)： Nervous system diseases  (GN03000O) ,  Congenital diseases,deformities in general.  (GD03010V)

Reference (11)：

• 1. Joutel A, Corpechot C, Ducros A, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383: 707-710, 1996.
• 2. Tournier-Lasserve E, Joutel A, Melki J, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet 3: 256-259, 1993.
• 3. Joutel A, Vahedi K, Corpechot C, et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet 350: 1511-1515, 1997.
• 4. Mizuta I, Watanabe-Hosomi A, Koizumi T, et al. New diagnostic criteria for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukocencephalopathy in Japan. J Neurol Sci 381: 62-67, 2017.
• 5. Pradotto L, Orsi L, Mencarelli M, et al. Recurrent transient global amnesia as presenting symptoms of CADASIL. Clin Case Rep 4: 1045-1048, 2016.

Terms in the title (6)： Notch3遺伝子 ,  エキソン ,  突然変異 ,  CADASIL ,  日本人 ,  症例