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Methods CSF1R testing was conducted on 145 consecutive leukoencephalopathy cases who were clinically suspected of having adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. From these, 135 cases whose detailed clinical information was available were enrolled. Forward logistic stepwise regression was performed to generate a probability model to predict a positive CSF1R mutation result. The current diagnostic criteria were also applied to our cohort and their sensitivity and specificity were calculated. Results Twenty-eight CSF1R-mutation-positive cases and 107 CSF1R-mutation-negative cases were identified. Our probability model suggested that factors raising the probability of a CSF1R-mutation-positive result were younger onset, parkinsonism, thinning of the corpus callosum and diffusion-restricted lesions. It also showed that involuntary movements and brainstem or cerebellar atrophy were negative predictors of a CSF1R-mutation-positive result. In our cohort, the sensitivity and specificity for \u0027probable\u0027 or \u0027possible\u0027 CSF1R-related leukoencephalopathy were 81% and 14%, respectively. Conclusions Clinical and brain imaging features predictive of the presence of a CSF1R mutation are proposed. Consideration of these factors will help prioritize patients for CSF1R testing."}]}, "item_1627890986942": {"attribute_name": "\u51fa\u7248\u30bf\u30a4\u30d7", "attribute_value_mlt": [{"subitem_version_resource": "http://purl.org/coar/version/c_be7fb7dd8ff6fe43", "subitem_version_type": "NA"}]}, "item_creator": {"attribute_name": "\u8457\u8005", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "\u8fd1\u85e4, \u606d\u53f2"}], "nameIdentifiers": [{"nameIdentifier": "109532", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "\u30d5\u30a1\u30a4\u30eb\u60c5\u5831", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2020-06-12"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "15MH202J_yoshi.pdf", "filesize": [{"value": "147.1 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_note", "mimetype": "application/pdf", "size": 147100.0, "url": {"label": "\u5185\u5bb9\u306e\u8981\u65e8", "url": "https://soar-ir.repo.nii.ac.jp/record/21405/files/15MH202J_yoshi.pdf"}, "version_id": "0099ccf4-a95c-4329-bd6f-e13438bb73bb"}, {"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2020-06-12"}], "displaytype": "detail", "download_preview_message": "", "file_order": 1, "filename": "15MH202J_shinsa.pdf", "filesize": [{"value": "101.5 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_note", "mimetype": "application/pdf", "size": 101500.0, "url": {"label": "\u5be9\u67fb\u7d50\u679c\u306e\u8981\u65e8", "url": "https://soar-ir.repo.nii.ac.jp/record/21405/files/15MH202J_shinsa.pdf"}, "version_id": "23c20c8b-69fb-498d-a92d-eeec5fb8fe6d"}, {"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2020-06-12"}], "displaytype": "detail", "download_preview_message": "", "file_order": 2, "filename": "15MH202J_ronbun.pdf", "filesize": [{"value": "532.9 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensefree": "\u00a9 2019 The Authors. 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  1. 050 医学部, 大学院医学系研究科
  2. 0507 学位論文
  3. 博士(医学)

Factors predictive of the presence of a CSF1R mutation in patients with leukoencephalopathy (白質異常症におけるCSF1R遺伝子変異陽性を予測する患者要因の検討)

http://hdl.handle.net/10091/00022162
d075ac7f-3621-429f-a265-619e55188243
名前 / ファイル ライセンス アクション
15MH202J_yoshi.pdf 内容の要旨 (147.1 kB)
15MH202J_shinsa.pdf 審査結果の要旨 (101.5 kB)
15MH202J_ronbun.pdf 博士論文の全文 (532.9 kB)
Item type 学位論文 / Thesis or Dissertation(1)
公開日 2020-06-15
タイトル
言語 en
タイトル Factors predictive of the presence of a CSF1R mutation in patients with leukoencephalopathy (白質異常症におけるCSF1R遺伝子変異陽性を予測する患者要因の検討)
言語
言語 eng
資源タイプ
資源 http://purl.org/coar/resource_type/c_db06
タイプ doctoral thesis
著者 近藤, 恭史

× 近藤, 恭史

WEKO 109532

近藤, 恭史

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出版者
出版者 信州大学
引用
内容記述タイプ Other
内容記述 近藤 恭史. Factors predictive of the presence of a CSF1R mutation in patients with leukoencephalopathy (白質異常症におけるCSF1R遺伝子変異陽性を予測する患者要因の検討). 信州大学, 2019, 博士論文.
書誌情報
発行日 2019-03-31
学位授与番号
学位授与番号 13601甲第1195号
学位授与年月日
学位授与年月日 2019-03-31
学位名
学位名 博士(医学)
学位授与機関
学位授与機関名
学位授与機関名 信州大学(Shinshu university)
学位の区分
Doctoral
学位の分野
医学
学位の報告番号
甲第1195号
内容記述
内容記述タイプ Other
内容記述 雑誌に発表。EUROPEAN JOURNAL OF NEUROLOGY. 27(2):369-375 (2020); doi:10.1111/ene.14086.
資源タイプ(コンテンツの種類)
内容記述タイプ Other
内容記述 Thesis
PubMed
関連識別子
識別子タイプ PMID
関連識別子 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=pubmed&term=31520500
関連名称
関連名称 31520500
DOI
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1111/ene.14086
関連名称
関連名称 10.1111/ene.14086
権利
権利情報 © 2019 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology <br/>This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.<br/>
出版タイプ
出版タイプ NA
出版タイプResource http://purl.org/coar/version/c_be7fb7dd8ff6fe43
WoS
Web of Science
URL http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000505919500023
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