ID | 63201 |
フルテキストURL | |
著者 |
Nomura, Emi
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Kawahara, Yuko
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Omote, Yoshio
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Takahashi, Yoshiaki
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Matsumoto, Namiko
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
ORCID
Ikegami, Ken
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Takemoto, Mami
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
ORCID
Kaken ID
Hishikawa, Nozomi
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Kaken ID
Nakano, Yumiko
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
ORCID
Yunoki, Taijun
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Morihara, Ryuta
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Uemura, Masahiro
Department of Neurology, Brain Research Institute, Niigata University
Abe, Koji
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Kaken ID
publons
researchmap
Yamashita, Toru
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
ORCID
Kaken ID
researchmap
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抄録 | Mutations in the ATP-binding cassette subfamily C member 6 (ABCC6) gene are responsible for pseudoxanthoma elasticum (PXE). PXE is a rare genetic metabolic disease with autosomal recessive inheritance that shows ectopic mineralization in skin, eyes and blood vessels, and causes cerebrovascular disease. There are few reports of intracranial hemorrhages in patients with the ABCC6 mutation. We report the first Japanese case with a heterozygous ABCC6 mutation displaying recurrent ischemic strokes and intracranial hemorrhages. We propose that the ABCC6 mutation may be one cause of neurovascular diseases with a family history.
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キーワード | ATP-binding cassette subfamily C member 6 (ABCC6)
neurovascular diseases
pseudoxanthoma elasticum (PXE)
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備考 | This is the peer reviewed version of the following article: [Nomura, E, Kawahara, Y, Omote, Y, et al. A case of a heterozygous ABCC6 mutation showing recurrent ischemic strokes and intracranial hemorrhages. Neurol Clin Neurosci. 2022; 00: 1– 4. doi:10.1111/ncn3.12575], which has been published in final form at https://doi.org/10.1111/ncn3.12575. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages there of by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.
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発行日 | 2022-2-4
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出版物タイトル |
Neurology and Clinical Neuroscience
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巻 | 10巻
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出版者 | Wiley
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開始ページ | 98
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終了ページ | 101
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ISSN | 2049-4173
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資料タイプ |
学術雑誌論文
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言語 |
英語
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OAI-PMH Set |
岡山大学
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論文のバージョン | author
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DOI | |
Web of Science KeyUT | |
関連URL | isVerisonOf https://doi.org/10.1111/ncn3.12575
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Citation | Nomura, E, Kawahara, Y, Omote, Y, et al. A case of a heterozygous ABCC6 mutation showing recurrent ischemic strokes and intracranial hemorrhages. Neurol Clin Neurosci. 2022; 00: 1– 4. doi:10.1111/ncn3.12575
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助成機関名 |
Japan Agency for Medical Research and Development
Japan Society for the Promotion of Science
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助成番号 | 20K09370
20K12044
20K19666
21K15190
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