Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy with a Novel NOTCH3 Cys323Trp Mutation Presenting Border-Zone Infarcts: A Case Report and Literature Review
被引:5
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作者:
Tojima, Maya
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机构:
Saiseikai Noe Hosp, Dept Neurol, Osaka, JapanSaiseikai Noe Hosp, Dept Neurol, Osaka, Japan
Tojima, Maya
[1
]
Saito, Satoshi
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机构:
Natl Cerebral & Cardiovasc Ctr, Dept Regenerat Med & Tissue Engn, 5-7-1 Fujishiro Dai, Suita, Osaka 5658565, JapanSaiseikai Noe Hosp, Dept Neurol, Osaka, Japan
Saito, Satoshi
[2
]
Yamamoto, Yumi
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机构:
Natl Cerebral & Cardiovasc Ctr, Dept Regenerat Med & Tissue Engn, 5-7-1 Fujishiro Dai, Suita, Osaka 5658565, JapanSaiseikai Noe Hosp, Dept Neurol, Osaka, Japan
Yamamoto, Yumi
[2
]
Mizuno, Toshiki
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机构:
Kyoto Prefectual Univ Med, Dept Neurol, Kyoto, JapanSaiseikai Noe Hosp, Dept Neurol, Osaka, Japan
Mizuno, Toshiki
[3
]
Ihara, Masafumi
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机构:
Natl Cerebral & Cardiovasc Ctr, Dept Stroke & Cerebrovasc Dis, Suita, Osaka, JapanSaiseikai Noe Hosp, Dept Neurol, Osaka, Japan
Ihara, Masafumi
[4
]
Fukuda, Hidetoshi
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Saiseikai Noe Hosp, Dept Neurol, Osaka, JapanSaiseikai Noe Hosp, Dept Neurol, Osaka, Japan
Fukuda, Hidetoshi
[1
]
机构:
[1] Saiseikai Noe Hosp, Dept Neurol, Osaka, Japan
[2] Natl Cerebral & Cardiovasc Ctr, Dept Regenerat Med & Tissue Engn, 5-7-1 Fujishiro Dai, Suita, Osaka 5658565, Japan
[3] Kyoto Prefectual Univ Med, Dept Neurol, Kyoto, Japan
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary and progressive small-vessel disease caused by NOTCH3 mutations, pathologically characterized by the degeneration of vascular mural cells, white matter changes, and ischemic strokes. Recently, dysautoregulation has received increasing attention regarding the pathogenesis of stroke in CADASIL. Here, we report a CADASIL case with a novel Cys323Trp mutation in the NOTCH3 gene, which suggests a close relationship between hemodynamic factors and clustering of cerebral infarctions in CADASIL. A 47-yearold male patient presented with internal border-zone infarcts in the bilateral hemispheres and was diagnosed with CADASIL by the presence of granular osmiophilic material and the accumulation of the Notch3 extracellular domain around small vessels. A literature review revealed 7 reports of similar CADASIL cases with clustering of cerebral infarctions related to blood pressure fluctuations. Not only large-artery stenosis but also small-vessel pathologies potentiate watershed infarctions, which might be triggered by hemodynamic fluctuation due to cerebral dysautoregulation.
机构:
Princess Margaret Hosp, Dept Pathol, Chem Pathol Lab, Hong Kong, Hong Kong, Peoples R ChinaPrincess Margaret Hosp, Dept Pathol, Chem Pathol Lab, Hong Kong, Hong Kong, Peoples R China
Au, Kam-Ming
Li, Ho-Lun
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机构:Princess Margaret Hosp, Dept Pathol, Chem Pathol Lab, Hong Kong, Hong Kong, Peoples R China
Li, Ho-Lun
Sheng, Bun
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机构:Princess Margaret Hosp, Dept Pathol, Chem Pathol Lab, Hong Kong, Hong Kong, Peoples R China
Sheng, Bun
Chow, Tat-Chong
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机构:Princess Margaret Hosp, Dept Pathol, Chem Pathol Lab, Hong Kong, Hong Kong, Peoples R China
Chow, Tat-Chong
Chen, Mo-Lung
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机构:Princess Margaret Hosp, Dept Pathol, Chem Pathol Lab, Hong Kong, Hong Kong, Peoples R China
Chen, Mo-Lung
Lee, Kam-Cheong
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机构:Princess Margaret Hosp, Dept Pathol, Chem Pathol Lab, Hong Kong, Hong Kong, Peoples R China
Lee, Kam-Cheong
Chan, Albert Yan-Wo
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机构:Princess Margaret Hosp, Dept Pathol, Chem Pathol Lab, Hong Kong, Hong Kong, Peoples R China
机构:
Reina Sofia Fdn, Carlos III Inst Hlth, Alzheimer Dis Res Unit, Alzheimer Ctr,CIEN Fdn, Madrid, SpainReina Sofia Fdn, Carlos III Inst Hlth, Alzheimer Dis Res Unit, Alzheimer Ctr,CIEN Fdn, Madrid, Spain
Zea-Sevilla, Ma Ascension
Bermejo-Velasco, Pedro
论文数: 0引用数: 0
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机构:
Hosp Puerta Hierro, Serv Neurol, Madrid, SpainReina Sofia Fdn, Carlos III Inst Hlth, Alzheimer Dis Res Unit, Alzheimer Ctr,CIEN Fdn, Madrid, Spain
Bermejo-Velasco, Pedro
Serrano-Heranz, Regino
论文数: 0引用数: 0
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机构:
Hosp Univ Henares, Med Interna Serv, Madrid, SpainReina Sofia Fdn, Carlos III Inst Hlth, Alzheimer Dis Res Unit, Alzheimer Ctr,CIEN Fdn, Madrid, Spain
机构:
BinZhou Med Univ, Affiliated Hosp, Binzhou 256600, Shandong, Peoples R ChinaBinZhou Med Univ, Affiliated Hosp, Binzhou 256600, Shandong, Peoples R China
Fan Weiming
Wang Yuliang
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机构:
BinZhou Med Univ, Affiliated Hosp, Binzhou 256600, Shandong, Peoples R ChinaBinZhou Med Univ, Affiliated Hosp, Binzhou 256600, Shandong, Peoples R China
Wang Yuliang
Li Youjie
论文数: 0引用数: 0
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机构:
Binzhou Med Univ, Dept Biochem & Mol Biol, Key Lab Tumour Mol Biol, Binzhou 256600, Shandong, Peoples R ChinaBinZhou Med Univ, Affiliated Hosp, Binzhou 256600, Shandong, Peoples R China
Li Youjie
Liu Xinsheng
论文数: 0引用数: 0
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机构:
Binzhou Med Univ, Affiliated MuPing Hosp, Binzhou 256600, Shandong, Peoples R ChinaBinZhou Med Univ, Affiliated Hosp, Binzhou 256600, Shandong, Peoples R China
Liu Xinsheng
Xie Shuyang
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机构:
Binzhou Med Univ, Dept Biochem & Mol Biol, Key Lab Tumour Mol Biol, Binzhou 256600, Shandong, Peoples R ChinaBinZhou Med Univ, Affiliated Hosp, Binzhou 256600, Shandong, Peoples R China
Xie Shuyang
Liu Zhaoxia
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机构:
Binzhou Med Univ, Affiliated MuPing Hosp, Binzhou 256600, Shandong, Peoples R ChinaBinZhou Med Univ, Affiliated Hosp, Binzhou 256600, Shandong, Peoples R China
机构:
King Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Jeddah, Saudi ArabiaKing Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Jeddah, Saudi Arabia
Algahtani, Hussein
Shirah, Bader
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机构:
King Saud bin Abdulaziz Univ Hlth Sci, King Abdullah Int Med Res Ctr, Jeddah, Saudi ArabiaKing Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Jeddah, Saudi Arabia
Shirah, Bader
Alharbi, Suzan Y.
论文数: 0引用数: 0
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机构:
King Saud bin Abdulaziz Univ Hlth Sci, Jeddah, Saudi ArabiaKing Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Jeddah, Saudi Arabia
Alharbi, Suzan Y.
Al-Qahtani, Mohammad H.
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机构:
King Abdulaziz Univ, Ctr Excellence Genom Med Res, Jeddah, Saudi ArabiaKing Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Jeddah, Saudi Arabia
Al-Qahtani, Mohammad H.
Abdulkareem, Angham Abdulrahman
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机构:
King Abdulaziz Univ, Ctr Excellence Genom Med Res, Jeddah, Saudi ArabiaKing Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Jeddah, Saudi Arabia
Abdulkareem, Angham Abdulrahman
Naseer, Muhammad Imran
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机构:
King Abdulaziz Univ, Ctr Excellence Genom Med Res, Jeddah, Saudi Arabia
King Abdulaziz Univ, Fac Appl Med Sci, Dept Med Lab Technol, Jeddah, Saudi ArabiaKing Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Jeddah, Saudi Arabia
Naseer, Muhammad Imran
JOURNAL OF STROKE & CEREBROVASCULAR DISEASES,
2020,
29
(07):