{"created":"2023-06-20T16:58:15.218962+00:00","id":16932,"links":{},"metadata":{"_buckets":{"deposit":"aa0d7559-c5f5-4006-b2be-571958e6b7c0"},"_deposit":{"created_by":3,"id":"16932","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"16932"},"status":"published"},"_oai":{"id":"oai:twinkle.repo.nii.ac.jp:00016932","sets":["140:1307:1308:1924:1926"]},"author_link":["261029","261025","261023","261020","261021","261022","261027","261019","261026","261024","261028","261018","261017","261016"],"item_10001_alternative_title_1":{"attribute_name":"別タイトル","attribute_value_mlt":[{"subitem_alternative_title":"小児期の近位型脊髄性筋萎縮症の臨床像と分子遺伝学的診断"}]},"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"1998-03-25","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"3","bibliographicPageEnd":"107","bibliographicPageStart":"93","bibliographicVolumeNumber":"68","bibliographic_titles":[{"bibliographic_title":"東京女子医科大学雑誌"}]}]},"item_10001_creator_2":{"attribute_name":"著者名","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"SHIRAIWA, Yumi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"SAITO, Kayoko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"OSAWA, Makiko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"FUKUYAMA, Yukio"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"IKEDA, Joh-E"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"KUMAGAI, Toshiyuki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"KOIDE, Hiroyoshi"}],"nameIdentifiers":[{}]}]},"item_10001_date_25":{"attribute_name":"受付日付","attribute_value_mlt":[{"subitem_date_issued_datetime":"2010-08-10","subitem_date_issued_type":"Created"}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"脊髄性筋萎縮症(SMA)は脊髄の前角細胞の変性,脱落により,筋萎縮や筋力低下を呈する常染色体性劣性の遺伝病である.本疾患は発症年齢,最高到達運動能力,経過により3つの型に分類される.分子遺伝学的には,1990年に3型ともに5q13に存在することが証明され,さらに1995年SMAの候補遺伝子としてSMN(survival motor neuron)遺伝子とNAIP(neuronal apoptosis inhibitory protein)遺伝子が報告された.本研究ではSMA患者を臨床的に分類し,SMN遺伝子,NAIP遺伝子について解析した.また,臨床型と遺伝子学的解析結果の関係を検討した.対象はSMA患者39名と精神遅滞,心肥大を各々伴つたatypical SMA2名である.1990年のInternational SMA Collaboration Workshop Reportの臨床型分類をもとに39名を分類した.この分類における発症年齢,最高到達運動能力,経過の3つの基準のすべてを満たし,臨床型に分類できたのは39例中20例であった.発症年齢,運動能力,経過のそれぞれについて分類した結果,発症年齢,経過では幅拡い臨床像を示し,臨床的に分類するのには最高到達運動能力および経過が有用であった.また,遺伝子解析の結果,全体の85%(33/39:I型90%,II型100%,III型54%)においてSMN遺伝子のexon 7のみ,またはexon 7および8のホモ接合性の欠失を認めた.また,I型の2名(5% 2/39)においてSMN遺伝子の欠失と同時にNAIP遺伝子のexon 5および欠失が認められた.両遺伝子の認められた2例ともに1型の重症例であったが,その他のSMN遺伝子のみの欠失した症例は臨床症状にかなりの幅が認めれていた.いずれの欠失も認められなかつた7例のうち5例は皿型であった.以上より臨床的重症度と遺伝子の欠失サイズの相関が示唆された.atypical SMAのうち1例にSMN遺伝子の欠失が認められた.また,精神遅滞をともなつた1例は欠失が認められず,異なる疾患の可能性も考えられた.","subitem_description_type":"Abstract"},{"subitem_description":"Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degenration of anterior horn cells in the spinal cord, leading to symmetrical proximal muscle weakness and atrophy. Affected individuals are classified into three types depending on the onset age, highest motor functional ability and clinical course. In 1990, the gene for SMA was mapped to chromosome region 5g13 for all three types of SMA. In 1995, the SMN (survival motor neuron) and NAIP (neuronal apoptosis inhibitory protein) genes were reported as candidate genes for SMA. In this study, we analyzed clinical features of SMA patients and deletions of these two candidate genes. The subjects included 39 SMA patients and two atypical SMA cases, one with mental retardation and the other with cardiomegaly. We classified 39 SMA cases based on the classification devised by the International SMA Consortium Meeting Report. Twenty cases satisfied all three criteria of this classification, and could clearly be classified as one of the three types. Our results of classifying cases according to each criterion suggested that clinical features of SMA constitute a broad spectrum encompassing the three types. Thus, it is most useful to classify patients according to their highest motor functional ability. Thirty-three cases of typical SMA (85% of all, 90% of type I, 100% of type II and 54% of type III) showed deletions of exons 7 and 8 or only exon 7 of the SMN gene. Two of type I (5% of all) showed deletions of exon 5 and 6 of the NAIP gene with deletions of the SMA genes. The other cases (2 of type I and 5 of type III) had no deletions of these genes. Involvement of the SMN and NAIP genes appears to be related to the severity of SMA. The one atypical case showed deletion of the SMN gene. The other one with mental retardation may be heterogeneous.","subitem_description_type":"Abstract"}]},"item_10001_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"261023","nameIdentifierScheme":"WEKO"}],"names":[{"name":"白岩, 由美"}]},{"nameIdentifiers":[{"nameIdentifier":"261024","nameIdentifierScheme":"WEKO"}],"names":[{"name":"斎藤, 加代子"}]},{"nameIdentifiers":[{"nameIdentifier":"261025","nameIdentifierScheme":"WEKO"}],"names":[{"name":"大澤, 真木子"}]},{"nameIdentifiers":[{"nameIdentifier":"261026","nameIdentifierScheme":"WEKO"}],"names":[{"name":"福山, 幸夫"}]},{"nameIdentifiers":[{"nameIdentifier":"261027","nameIdentifierScheme":"WEKO"}],"names":[{"name":"池田, 穣衛"}]},{"nameIdentifiers":[{"nameIdentifier":"261028","nameIdentifierScheme":"WEKO"}],"names":[{"name":"熊谷, 俊幸"}]},{"nameIdentifiers":[{"nameIdentifier":"261029","nameIdentifierScheme":"WEKO"}],"names":[{"name":"小出, 博義"}]}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"東京女子医科大学学会"}]},"item_10001_source_id_11":{"attribute_name":"NCID","attribute_value_mlt":[{"subitem_source_identifier":"AN00161368","subitem_source_identifier_type":"NCID"}]},"item_10001_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0040-9022","subitem_source_identifier_type":"ISSN"}]},"item_10001_text_35":{"attribute_name":"著者所属","attribute_value_mlt":[{"subitem_text_value":"Department of Pediatrics, Tokyo Women's Medical College"},{"subitem_text_value":"Department of Pediatrics, Tokyo Women's Medical College"},{"subitem_text_value":"Department of Pediatrics, Tokyo Women's Medical College"},{"subitem_text_value":"Department of Pediatrics, Tokyo Women's Medical College:Department of Pediatrics, Saitama Medical College"},{"subitem_text_value":"Institute of Molecular Science,Tokai University"},{"subitem_text_value":"Department of Pediatrics, Aichi Prefectural Colony Central Hospital"},{"subitem_text_value":"Department of Pediatrics, Saitama Medical College"},{"subitem_text_value":"東京女子医科大学小児科学"},{"subitem_text_value":"東京女子医科大学小児科学"},{"subitem_text_value":"東京女子医科大学小児科学"},{"subitem_text_value":"東京女子医科大学小児科学:埼玉医科大学小児科学"},{"subitem_text_value":"東海大学分子神経化学"},{"subitem_text_value":"愛知県心身障害者コロニー中央病院小児科"},{"subitem_text_value":"埼玉医科大学小児科学"}]},"item_10001_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_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2017-03-27"}],"displaytype":"detail","filename":"KJ00006024466.pdf","filesize":[{"value":"1.3 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"KJ00006024466.pdf","url":"https://twinkle.repo.nii.ac.jp/record/16932/files/KJ00006024466.pdf"},"version_id":"8b514dc8-ef63-46e8-b036-fdd55360a4a4"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"CLINICAL FEATURES AND MOLECULAR GENETIC DIAGNOSIS OF PROXIMAL SPINAL MUSCULAR ATROPHY IN CHILDHOOD","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"CLINICAL FEATURES AND MOLECULAR GENETIC DIAGNOSIS OF PROXIMAL SPINAL MUSCULAR ATROPHY IN CHILDHOOD"}]},"item_type_id":"10001","owner":"3","path":["1926"],"pubdate":{"attribute_name":"公開日","attribute_value":"2010-08-10"},"publish_date":"2010-08-10","publish_status":"0","recid":"16932","relation_version_is_last":true,"title":["CLINICAL FEATURES AND MOLECULAR GENETIC DIAGNOSIS OF PROXIMAL SPINAL MUSCULAR ATROPHY IN CHILDHOOD"],"weko_creator_id":"3","weko_shared_id":-1},"updated":"2023-06-20T23:00:24.196160+00:00"}