Two Japanese CADASIL Families Exhibiting Notch3 Mutation R75P Not Involving Cysteine Residue
スポンサーリンク
概要
- 論文の詳細を見る
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.
著者
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Fushiki Shinji
Department Of Clinical Pathology Kyoto Prefectural University Of Medicine:department Of Pathology Ky
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Nakagawa Masanori
Department Of Astrophysics Nagoya University
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Itoh Kyoko
Department Of Pathology And Applied Neurobiology Graduate School Of Medical Science Kyoto Prefectura
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Muranishi Manabu
Department Of Neurology Kyoto Second Red Cross Hospital
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Nagakane Yoshinari
Department Of Neurology Kyoto Second Red Cross Hospital Haruobicho Kamigyoku
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Kawase Yuji
Department of Neurology, Oomori Hospital, Toho University
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Mizuno Toshiki
Department of Molecular Neurology, Kyoto Prefectural University of Medicine
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Yaoi Takeshi
Department of Pathology & Applied Neurobiology, Kyoto Prefectural University of Medicine
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Kawabe Kiyokazu
Department of Neurology, Oomori Hospital, Toho University
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Fushiki Shinji
Department of Pathology & Applied Neurobiology, Kyoto Prefectural University of Medicine
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Torugun Torusunjian
Department of Molecular Neurology, Kyoto Prefectural University of Medicine
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Tango Hiromi
Department of Molecular Neurology, Kyoto Prefectural University of Medicine
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Kudeken Tukasa
Department of Neurology, Oomori Hospital, Toho University
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Oshima Fumiko
Department of Neurology, Kyoto First Red Cross Hospital
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Nagakane Yoshinari
Department of Molecular Neurology, Kyoto Prefectural University of Medicine
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Muranishi Manabu
Department of Molecular Neurology, Kyoto Prefectural University of Medicine
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Nakagawa Masanori
Department of Molecular Neurology, Kyoto Prefectural University of Medicine
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