| Item type |
文献 / Documents(1) |
| 公開日 |
2021-09-03 |
| アクセス権 |
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アクセス権 |
open access |
| 資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
| 出版社版DOI |
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識別子タイプ |
DOI |
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関連識別子 |
https://doi.org/10.2463/mrms.mp.2016-0016 |
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言語 |
ja |
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関連名称 |
10.2463/mrms.mp.2016-0016 |
| 出版タイプ |
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|
出版タイプ |
VoR |
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出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| タイトル |
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タイトル |
MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation |
|
言語 |
en |
| タイトル別表記 |
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その他のタイトル |
MRS of HDLS and CSF1R Mutation Carrier |
|
言語 |
en |
| 著者 |
阿部, 考志
瓦井, 俊孝
藤田, 浩司
佐光, 亘
寺澤, 由佳
マツダ, ツヨシ
サカイ, ワカ
宮城, 愛
松井, 尚子
和泉, 唯信
梶, 龍兒
原田, 雅史
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| 抄録 |
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内容記述タイプ |
Abstract |
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内容記述 |
Purpose: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare neurodegenerative disorder with various clinical presentations. Mutation of the colony-stimulating factor 1 receptor (CSF1R) gene is considered to be a cause of this autosomal dominant disorder. The purpose of this study was to report magnetic resonance spectroscopy (MRS) findings in patients with HDLS and asymptomatic carriers and to clarify the use of MRS in this disease.
Materials and Methods: In this retrospective, institutional review board-approved study, we included four consecutive patients, genetically diagnosed with HDLS, and two asymptomatic carriers after acquiring informed consent. We performed single-voxel MRS of the left centrum semiovale on a 3T clinical scanner. We also included a sex-matched normal dataset. We quantified N-acetylaspartate (NAA), creatine, choline-containing compounds (Cho), glutamine, glutamate (Glu), myo-inositol (Ins), glutathione, lactate (Lac), and gamma-amino butyric acid using LCModel. We performed statistical analysis, and P value <0.05 was considered significant.
Results: In HDLS cases, MRS revealed decreased NAA and Glu concentrations, which probably reflected neuronal damage and/or loss, and a subsequent reduction of neurotransmitters. A patient with HDLS also had increased Cho and Ins concentrations, indicating gliosis, and increased Cho concentration was also observed in an asymptomatic carrier. This suggests that metabolic changes had already occurred in an asymptomatic state.
Conclusion: We demonstrated changes in metabolite concentrations not only in patients with HDLS but also in asymptomatic CSF1R mutation carriers. Our study indicates that MRS is a potentially useful tool for the analysis of metabolic and pathophysiological findings of HDLS, even during the early stages of disease. |
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言語 |
en |
| キーワード |
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言語 |
en |
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主題Scheme |
Other |
|
主題 |
magnetic resonance imaging |
| キーワード |
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言語 |
en |
|
主題Scheme |
Other |
|
主題 |
hereditary diffuse leukoencephalopathy with spheroids |
| キーワード |
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|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
colony stimulating factor-1 receptor |
| キーワード |
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|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Mescher–Garwood point-resolved spectroscopy |
| 書誌情報 |
en : Magnetic Resonance in Medical Sciences
巻 16,
号 4,
p. 297-303,
発行日 2016-12-26
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| 収録物ID |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
18802206 |
| 収録物ID |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
13473182 |
| 収録物ID |
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収録物識別子タイプ |
NCID |
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収録物識別子 |
AA11648770 |
| 出版者 |
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出版者 |
Japanese Society for Magnetic Resonance in Medicine |
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言語 |
en |
| 権利情報 |
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言語 |
en |
|
権利情報 |
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives International License. |
| EID |
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識別子 |
328253 |
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識別子タイプ |
URI |
| 言語 |
|
|
言語 |
eng |
mrms_16_4_297.pdf (3.27 MB)
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