徳島大学 教育・研究者情報データベース(EDB)

1. 阿部 考志

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2. 瓦井 俊孝

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3. 藤田 浩司([徳島大学.大学院医歯薬学研究部.医学域.先端医学教育研究プロジェクト]/[徳島大学.大学院医歯薬学研究部.医学域.医科学部門.内科系.臨床神経科学]/[徳島大学.病院.診療科.内科.脳神経内科])

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4. 佐光 亘

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5. 寺澤 由佳

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6. (英) Matsuda Tsuyoshi

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7. (英) Sakai Waka

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8. (英) Tsukamoto-Miyashiro Ai

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9. 松井 尚子([徳島大学.大学院医歯薬学研究部.医学域.医科学部門.内科系.臨床神経科学])

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10. (英) Izumi Yuishin

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11. 梶 龍兒([徳島大学.研究支援・産官学連携センター])

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12. 原田 雅史([徳島大学.大学院医歯薬学研究部.医学域.医科学部門.内科系.放射線医学])

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

(英) 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. 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 3-T 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. 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. 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.

1. (英) Article.ELocationID: 10.2463/mrms.mp.2016-0016

2. (英) Article.PublicationTypeList.PublicationType: Journal Article