{"created":"2023-06-20T15:56:36.668702+00:00","id":13539,"links":{},"metadata":{"_buckets":{"deposit":"ee40fd92-7ce6-4c9e-81ca-04ba0d8b8c07"},"_deposit":{"created_by":29,"id":"13539","owners":[29],"pid":{"revision_id":0,"type":"depid","value":"13539"},"status":"published"},"_oai":{"id":"oai:redcross.repo.nii.ac.jp:00013539","sets":["95:28:525"]},"author_link":["28373","3492","46989","3494","8871","46992","49691","8872","3496","49690"],"item_10002_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2017-12-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"19","bibliographicPageStart":"15","bibliographicVolumeNumber":"37","bibliographic_titles":[{"bibliographic_title":"静岡赤十字病院研究報"},{"bibliographic_title":"Journal of Japanese Red Cross Shizuoka Hospital","bibliographic_titleLang":"en"}]}]},"item_10002_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Startle病（Hyperekplexia）は驚愕反応の亢進状態を特徴とする稀な疾患であり，聴覚・触覚性の刺激による過剰な驚愕反応は筋硬直や筋痙攣，ミオクローヌスを生じ，転倒や呼吸困難などを引き起こす．新生児期に発症することが多く，大部分が乳幼児期を過ぎると自然に軽減するが，成人になってから発症する例も存在する．原因となる染色体の異常がいくつか同定されており，グリシン受容体・輸送体の遺伝子異常が報告されているが，その遺伝形式は常染色体優性または劣性遺伝，孤発例も多く存在する．今回当科でもStartle病の家族歴を持つ症例を経験し，その遺伝子分析を行ったので報告する．症例は44歳　女性．幼少時より意識消失発作やミオクローヌス様発作のてんかんがありクロナゼパムを内服継続していた．長男（20歳）がこども病院でStartle病と診断されており，今回成人を期に当院に通院するようになったため，本人も一緒に通院希望して当院受診した．両者，歩行時に自分が転びそうな恐怖感が生じたり，緊張することで全身が硬直するといった症状を訴えた．長男を含め，血縁関係のある家族7人に遺伝子分析を行ったところ，症状のある3人からGLRA1（NM-000171）にc.896G>A変位を認めた．今回，医中誌・MEDLINEを用いて日本国内で症例報告されているStartle病を調べ，そこに共通点があるかどうか調べてみた．Startle病は稀な疾患であり，日本国内でもあまり知れ渡っておらず，臨床では見逃されているケースが非常に多いと思われる．外傷により死を招く危険性もある病気であり，病気に対する知識の普及が今後の課題と思われる．","subitem_description_type":"Abstract"}]},"item_10002_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"静岡赤十字病院"}]},"item_10002_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{}]},"item_10002_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0911-9833","subitem_source_identifier_type":"ISSN"}]},"item_10002_version_type_20":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"榮本, 昭仁"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"今井, 昇"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"伊賀崎, 翔太"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"堀内, 公成"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"守屋, 麻美"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"八木, 宣泰"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"小西, 高志"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"芹澤, 正博"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"小張, 昌弘"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-04-09"}],"displaytype":"simple","filename":"jrcsh3701_15-19.pdf","filesize":[{"value":"1.0 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"pdf010004","url":"https://redcross.repo.nii.ac.jp/record/13539/files/jrcsh3701_15-19.pdf"},"version_id":"18090206-52da-4e21-8367-74b16508ef88"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Startle病","subitem_subject_scheme":"Other"},{"subitem_subject":"Hyperekplexia","subitem_subject_scheme":"Other"},{"subitem_subject":"驚愕病","subitem_subject_scheme":"Other"},{"subitem_subject":"GLRA1","subitem_subject_scheme":"Other"},{"subitem_subject":"Startle disease","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Hyperexplexia","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"GLRA1","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"遺伝子解析により診断が確定したStartle病（Hyperekplexia）の家族例","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"遺伝子解析により診断が確定したStartle病（Hyperekplexia）の家族例"},{"subitem_title":"Example of families with Startle disease (Hyperexplexia) whose diagnosis was confirmed by Gene analysis","subitem_title_language":"en"}]},"item_type_id":"10002","owner":"29","path":["525"],"pubdate":{"attribute_name":"公開日","attribute_value":"2018-04-09"},"publish_date":"2018-04-09","publish_status":"0","recid":"13539","relation_version_is_last":true,"title":["遺伝子解析により診断が確定したStartle病（Hyperekplexia）の家族例"],"weko_creator_id":"29","weko_shared_id":-1},"updated":"2023-06-20T18:57:40.397893+00:00"}