Gerstmann-Sträussler-Scheinker症候群(Pro102Leu)の患者の臨床的特徴と放射線学的特徴との相関

• Material Type: 博士論文
• Title: Gerstmann-Sträussler-Scheinker症候群(Pro102Leu)の患者の臨床的特徴と放射線学的特徴との相関
• Volume: 391
• Author/Editor: 吉村, 道由
• Author Heading: 吉村, 道由
• Publication, Distribution, etc.: 鹿児島大学
• Publication Date: 2018-08-15; 391
• Publication Date (W3CDTF): 2018-08-15
• Alternative Title: Correlation between clinical and radiologic features of patients with Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu)
• Periodical title: Journal of the Neurological Sciences
• Degree grantor/type: 鹿児島大学
• Date Granted: 2018-12-27
• Date Granted (W3CDTF): 2018-12-27
• Dissertation Number: 甲総研第487号
• Degree Type: 博士(医学); Doctor of Philosophy in Medical Science
• Conferring No. (Dissertation): 甲総研第487号
• Text Language Code: eng
• NDC: 492
• Target Audience: 一般
• Note (General): 博士論文全文, 最終試験結果の要旨, 論文審査の要旨, 博士論文要旨; Background and purpose: Gerstmann-Sträussler-Scheinker syndrome is a rare hereditary neurodegenerative disorder with clinical heterogeneity. This study is aim to demonstrate the clinical spectrum and radiologic characteristics of patients caused by Pro102Leu mutation in PRNP.Materials and methods: We retrospect clinical manifestations of five patients from four Japanese families, and comprehensively analyzed their brain MRI, SPECT (N-isopropyl-p-[123I] iodoamphetamine), and PET (18F-2-fluoro-2-deoxy-D-glucose) images.Results: All patients developed ataxia of lower limbs and trunk, gait disturbance, dysesthesia in legs, and lower limb hyporeflexia. In the early clinical stage before dementia began, no noticeable abnormalities could be observed from brain MRI, but SPECT and PET revealed mosaic-like pattern of blood flow and glucose metabolism of the brain. Predominant abnormalities were found in the occipital and frontal lobes on SPECT and PET analysis, respectively. In SPECT analysis, blood flow of the anterior cerebellar lobes was lower than that of the posterior cerebellar lobes.Conclusions: Clinical symptoms resulting from failure of dorsal horn of spinal cord and spinocerebellar tracts were observed in all cases. Radiologic findings revealed individual differences of involved region in their brain, which could produce clinical diversity. We identified a downtrend of blood flow in the anterior cerebellar lobes, a projection field of the spinocerebellar tracts, which is an important feature of Gerstmann-Sträussler-Scheinker syndrome.
• DOI: info:doi/10.1016/j.jns.2018.05.012; https://doi.org/info:doi/10.1016/j.jns.2018.05.012
• Persistent ID (NDL): info:ndljp/pid/11245988; https://dl.ndl.go.jp/pid/11245988
• Collection: 障害者向け資料
• Collection (Materials For Handicapped People:1): テキストデータ
• Collection (particular): 国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文; https://dl.ndl.go.jp/collections/A00014
• Acquisition Basis: 博士論文（自動収集）
• Date Accepted (W3CDTF): 2019-03-03T03:58:25+09:00
• Date Created (W3CDTF): 2019-01-23
• Format (IMT): PDF; application/pdf
• Access Restrictions: 国立国会図書館内限定公開
• Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
• Availability of remote photoduplication service: 可
• Original Material (URI): https://www.elsevier.com/locate/jns
• Periodical Title (URI): http://hdl.handle.net/10232/00030430
• Data Provider (Database): 国立国会図書館 : 国立国会図書館デジタルコレクション; https://dl.ndl.go.jp

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