WEKO3
アイテム
{"_buckets": {"deposit": "6cf624a2-f2bd-483f-be9c-fd5ab8b08f90"}, "_deposit": {"created_by": 25, "id": "42416", "owners": [25], "pid": {"revision_id": 0, "type": "depid", "value": "42416"}, "status": "published"}, "_oai": {"id": "oai:shinshu.repo.nii.ac.jp:00042416", "sets": ["2668"]}, "author_link": ["165741", "165737", "165743", "165731", "165740", "165739", "165732", "165735", "165734", "165742", "165730", "165727", "165738", "165729", "165733", "165736", "165728", "165744"], "item_20002_biblio_info_27": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2014-11-16", "bibliographicIssueDateType": "Issued"}, "bibliographicPageStart": "7132", "bibliographicVolumeNumber": "4", "bibliographic_titles": [{"bibliographic_title": "SCIENTIFIC REPORTS"}]}]}, "item_20002_creator_3": {"attribute_name": "作成者(その他言語)", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "Doi, Hiroshi"}], "nameIdentifiers": [{"nameIdentifier": "165727", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Ushiyama, Masao"}], "nameIdentifiers": [{"nameIdentifier": "165728", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Baba, Takashi"}], "nameIdentifiers": [{"nameIdentifier": "165729", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Tani, Katsuko"}], "nameIdentifiers": [{"nameIdentifier": "165730", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Shiina, Masaaki"}], "nameIdentifiers": [{"nameIdentifier": "165731", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Ogata, Kazuhiro"}], "nameIdentifiers": [{"nameIdentifier": "165732", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Miyatake, Satoko"}], "nameIdentifiers": [{"nameIdentifier": "165733", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Fukuda-Yuzawa, Yoko"}], "nameIdentifiers": [{"nameIdentifier": "165734", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Tsuji, Shoji"}], "nameIdentifiers": [{"nameIdentifier": "165735", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Nakashima, Mitsuko"}], "nameIdentifiers": [{"nameIdentifier": "165736", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Tsurusaki, Yoshinori"}], "nameIdentifiers": [{"nameIdentifier": "165737", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Miyake, Noriko"}], "nameIdentifiers": [{"nameIdentifier": "165738", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Saitsu, Hirotomo"}], "nameIdentifiers": [{"nameIdentifier": "165739", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Ikeda, Shu-ichi"}], "nameIdentifiers": [{"nameIdentifier": "165740", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Tanaka, Fumiaki"}], "nameIdentifiers": [{"nameIdentifier": "165741", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Matsumoto, Naomichi"}], "nameIdentifiers": [{"nameIdentifier": "165742", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Yoshida, Kunihiro"}], "nameIdentifiers": [{"nameIdentifier": "165743", "nameIdentifierScheme": "WEKO"}]}]}, "item_20002_date_19": {"attribute_name": "日付", "attribute_value_mlt": [{"subitem_date_issued_datetime": "2017-12-25", "subitem_date_issued_type": "Created"}]}, "item_20002_description_14": {"attribute_name": "内容記述", "attribute_value_mlt": [{"subitem_description": "Autosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias (ARHSPs) are clinically and genetically heterogeneous neurological disorders. Herein we describe Japanese siblings with a midlife-onset, slowly progressive type of cerebellar ataxia and spastic paraplegia, without intellectual disability. Using whole exome sequencing, we identified a homozygous missense mutation in DDHD2, whose mutations were recently identified as the cause of early-onset ARHSP with intellectual disability. Brain MRI of the patient showed a thin corpus callosum. Cerebral proton magnetic resonance spectroscopy revealed an abnormal lipid peak in the basal ganglia, which has been reported as the hallmark of DDHD2-related ARHSP (SPG 54). The mutation caused a marked reduction of phospholipase A(1) activity, supporting that this mutation is the cause of SPG54. Our cases indicate that the possibility of SPG54 should also be considered when patients show a combination of adult-onset spastic ataxia and a thin corpus callosum. Magnetic resonance spectroscopy may be helpful in the differential diagnosis of patients with spastic ataxia phenotype.", "subitem_description_type": "Other"}]}, "item_20002_description_20": {"attribute_name": "資源タイプ", "attribute_value_mlt": [{"subitem_description": "Article", "subitem_description_type": "Other"}]}, "item_20002_description_22": {"attribute_name": "その他の資源識別子", "attribute_value_mlt": [{"subitem_description": "SCIENTIFIC REPORTS. 4:7132 (2014)", "subitem_description_type": "Other"}]}, "item_20002_full_name_16": {"attribute_name": "公開者(その他言語)", "attribute_value_mlt": [{"nameIdentifiers": [{"nameIdentifier": "165744", "nameIdentifierScheme": "WEKO"}], "names": [{"name": "NATURE, PUBLISHING GROUP"}]}]}, "item_20002_identifier_23": {"attribute_name": "資源識別子URI", "attribute_value_mlt": [{"subitem_identifier_type": "HDL", "subitem_identifier_uri": "http://hdl.handle.net/10091/00020105"}]}, "item_20002_relation_31": {"attribute_name": "PubMed番号", "attribute_value_mlt": [{"subitem_relation_type": "isIdenticalTo", "subitem_relation_type_id": {"subitem_relation_type_id_text": "http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search\u0026DB=pubmed\u0026term=25417924", "subitem_relation_type_select": "PMID"}}]}, "item_20002_relation_32": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_type": "isIdenticalTo", "subitem_relation_type_id": {"subitem_relation_type_id_text": "http://doi.org/10.1038/srep07132", "subitem_relation_type_select": "DOI"}}]}, "item_20002_rights_50": {"attribute_name": "権利", "attribute_value_mlt": [{"subitem_rights": "© The Author(s) 2014 / This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission fromthe license holder in order to reproduce thematerial. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/"}, {"subitem_rights": "© The Author(s) 2014 / This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission fromthe license holder in order to reproduce thematerial. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/"}]}, "item_20002_source_id_25": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "2045-2322", "subitem_source_identifier_type": "ISSN"}]}, "item_20002_text_52": {"attribute_name": "機関ID", "attribute_value_mlt": [{"subitem_text_value": "17"}]}, "item_20002_text_53": {"attribute_name": "コンテンツID", "attribute_value_mlt": [{"subitem_text_value": "oai:soar-ir.repo.nii.ac.jp:00019344"}]}, "item_20002_text_54": {"attribute_name": "コンテンツ更新日時", "attribute_value_mlt": [{"subitem_text_value": "2020-08-03T06:51:28Z"}]}, "item_20002_version_type_51": {"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_access_right": {"attribute_name": "アクセス権", "attribute_value_mlt": [{"subitem_access_right": "metadata only access", "subitem_access_right_uri": "http://purl.org/coar/access_right/c_14cb"}]}, "item_files": {"attribute_name": "ファイル情報", "attribute_type": "file", "attribute_value_mlt": [{"download_preview_message": "", "file_order": 0, "filename": "", "future_date_message": "", "is_thumbnail": false, "mimetype": "", "size": 0, "url": {"url": "https://soar-ir.repo.nii.ac.jp/?action=repository_action_common_download\u0026item_id=19344\u0026item_no=1\u0026attribute_id=65\u0026file_no=1"}, "version_id": ""}]}, "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": "Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation"}]}, "item_type_id": "20002", "owner": "25", "path": ["2668"], "permalink_uri": "https://shinshu.repo.nii.ac.jp/records/42416", "pubdate": {"attribute_name": "公開日", "attribute_value": "2020-09-04"}, "publish_date": "2020-09-04", "publish_status": "0", "recid": "42416", "relation": {}, "relation_version_is_last": true, "title": ["Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation"], "weko_shared_id": -1}
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation
https://shinshu.repo.nii.ac.jp/records/42416
https://shinshu.repo.nii.ac.jp/records/42416c109e53a-e787-4a95-a80d-fd915fa81c58
名前 / ファイル | ライセンス | アクション |
---|---|---|
https://soar-ir.repo.nii.ac.jp/?action=repository_action_common_download&item_id=19344&item_no=1&attribute_id=65&file_no=1
|
|
Item type | Journal Article(1) | |||||
---|---|---|---|---|---|---|
公開日 | 2020-09-04 | |||||
タイトル | ||||||
タイトル | Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation | |||||
作成者(その他言語) |
Doi, Hiroshi
× Doi, Hiroshi× Ushiyama, Masao× Baba, Takashi× Tani, Katsuko× Shiina, Masaaki× Ogata, Kazuhiro× Miyatake, Satoko× Fukuda-Yuzawa, Yoko× Tsuji, Shoji× Nakashima, Mitsuko× Tsurusaki, Yoshinori× Miyake, Noriko× Saitsu, Hirotomo× Ikeda, Shu-ichi× Tanaka, Fumiaki× Matsumoto, Naomichi× Yoshida, Kunihiro |
|||||
公開者(その他言語) | ||||||
姓名 | NATURE, PUBLISHING GROUP | |||||
書誌情報 |
SCIENTIFIC REPORTS 巻 4, p. 7132, 発行日 2014-11-16 |
|||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
アクセス権 | ||||||
アクセス権 | metadata only access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Autosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias (ARHSPs) are clinically and genetically heterogeneous neurological disorders. Herein we describe Japanese siblings with a midlife-onset, slowly progressive type of cerebellar ataxia and spastic paraplegia, without intellectual disability. Using whole exome sequencing, we identified a homozygous missense mutation in DDHD2, whose mutations were recently identified as the cause of early-onset ARHSP with intellectual disability. Brain MRI of the patient showed a thin corpus callosum. Cerebral proton magnetic resonance spectroscopy revealed an abnormal lipid peak in the basal ganglia, which has been reported as the hallmark of DDHD2-related ARHSP (SPG 54). The mutation caused a marked reduction of phospholipase A(1) activity, supporting that this mutation is the cause of SPG54. Our cases indicate that the possibility of SPG54 should also be considered when patients show a combination of adult-onset spastic ataxia and a thin corpus callosum. Magnetic resonance spectroscopy may be helpful in the differential diagnosis of patients with spastic ataxia phenotype. | |||||
日付 | ||||||
日付 | 2017-12-25 | |||||
日付タイプ | Created | |||||
資源タイプ | ||||||
内容記述タイプ | Other | |||||
内容記述 | Article | |||||
その他の資源識別子 | ||||||
内容記述タイプ | Other | |||||
内容記述 | SCIENTIFIC REPORTS. 4:7132 (2014) | |||||
資源識別子URI | ||||||
識別子 | http://hdl.handle.net/10091/00020105 | |||||
識別子タイプ | HDL | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 2045-2322 | |||||
PubMed番号 | ||||||
関連タイプ | isIdenticalTo | |||||
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=25417924 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | http://doi.org/10.1038/srep07132 | |||||
権利 | ||||||
権利情報 | © The Author(s) 2014 / This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission fromthe license holder in order to reproduce thematerial. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ | |||||
権利 | ||||||
権利情報 | © The Author(s) 2014 / This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission fromthe license holder in order to reproduce thematerial. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 |