文献

J-GLOBAL ID：201702215334714108   整理番号：17A1513491

スフェロイド形成をともなう遺伝性びまん性白質脳症とコロニー刺激因子1受容体変異の無症候性キャリアの患者におけるMR分光法

MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation

著者 (12件)： Abe Takashi (Department of Radiology, Institute of Biomedical Sciences, Tokushima University Graduate School) ,  Kawarai Toshitaka (Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School) ,  Fujita Koji (Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School) ,  Sako Wataru (Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School) ,  Terasawa Yuka (Department of Neurology, Jikei University School of Medicine) ,  Matsuda Tsuyoshi (MR Applications and Workflow Asia Pacific, GE Healthcare Japan Corporation) ,  Sakai Waka (Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School) ,  Tsukamoto-Miyashiro Ai (Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School) ,  Matsui Naoko (Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School) ,  Izumi Yuishin (Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School) ,  Kaji Ryuji (Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School) ,  Harada Masafumi (Department of Radiology, Institute of Biomedical Sciences, Tokushima University Graduate School)
資料名： Magnetic Resonance in Medical Sciences  (Magnetic Resonance in Medical Sciences)
巻： 16  号： 4  ページ： 297-303(J-STAGE)  発行年： 2017年 
JST資料番号： L4632A  ISSN： 1347-3182  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： 日本 (JPN)  言語： 英語 (EN)

抄録/ポイント： 目的:スフェロイドをともなう遺伝性びまん性白質脳症(HDLS...

シソーラス用語： *脳疾患 ,...
準シソーラス用語： 遺伝子変異 ,...

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著者キーワード (4件)： magnetic resonance imaging ,  hereditary diffuse leukoencephalopathy with spheroids ,  colony stimulating factor-1 receptor ,  Mescher-Garwood point-resolved spectroscopy

分類 (2件)： 神経系の診断  (GN02000H) ,  先天性疾患・奇形一般  (GD03010V)

引用文献 (20件)：

• 1. Axelsson R, Röyttä M, Sourander P, Akesson HO, Andersen O. Hereditary diffuse leucoencephalopathy with spheroids. Acta Psychiatr Scand Suppl 1984; 314: 1-65.
• 2. Sundal C, Ekholm S, Nordborg C, et al. Update of the original HDLS kindred: divergent clinical courses. Acta Neurol Scand 2012; 126:67-75.
• 3. Konno T, Tada M, Tada M, et al. Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. Neurology 2014; 82:139-148.
• 4. Rademakers R, Baker M, Nicholson AM, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 2011; 44:200-205.
• 5. Inui T, Kawarai T, Fujita K, et al. A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis. J Neurol Sci 2013; 334:192-195.

タイトルに関連する用語 (9件)： スフェロイド ,  遺伝 ,  白質脳症 ,  コロニー刺激因子 ,  受容体 ,  変異 ,  無症候性キャリア ,  患者 ,  MR分光法