{"created":"2021-03-01T06:22:25.612082+00:00","id":19344,"links":{},"metadata":{"_buckets":{"deposit":"5c78eccf-1a8d-47c9-aa01-462d17788f72"},"_deposit":{"id":"19344","owners":[],"pid":{"revision_id":0,"type":"depid","value":"19344"},"status":"published"},"_oai":{"id":"oai:soar-ir.repo.nii.ac.jp:00019344","sets":["461:462"]},"author_link":["104560","104561","104562","104563","104564","104565","104566","104567","104568","104569","104570","104571","104572","104573","104574","104575","104576"],"item_1628147817048":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_6_biblio_info_6":{"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_6_description_20":{"attribute_name":"抄録","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":"Abstract"}]},"item_6_description_30":{"attribute_name":"資源タイプ（コンテンツの種類）","attribute_value_mlt":[{"subitem_description":"Article","subitem_description_type":"Other"}]},"item_6_description_5":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"SCIENTIFIC REPORTS. 4:7132 (2014)","subitem_description_type":"Other"}]},"item_6_link_3":{"attribute_name":"信州大学研究者総覧へのリンク","attribute_value_mlt":[{"subitem_link_text":"Yoshida, Kunihiro","subitem_link_url":"http://soar-rd.shinshu-u.ac.jp/profile/ja.yhfNHFkh.html"}]},"item_6_link_67":{"attribute_name":"WoS","attribute_value_mlt":[{"subitem_link_url":"http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000346183600001"}]},"item_6_publisher_4":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"NATURE PUBLISHING GROUP"}]},"item_6_relation_47":{"attribute_name":"PubMed","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"25417924"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://pubmed.ncbi.nlm.nih.gov/25417924","subitem_relation_type_select":"PMID"}}]},"item_6_relation_48":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"10.1038/srep07132"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1038/srep07132","subitem_relation_type_select":"DOI"}}]},"item_6_rights_62":{"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/"}]},"item_6_source_id_35":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"2045-2322","subitem_source_identifier_type":"PISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Doi, Hiroshi","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ushiyama, Masao","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Baba, Takashi","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tani, Katsuko","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Shiina, Masaaki","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ogata, Kazuhiro","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Miyatake, Satoko","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Fukuda-Yuzawa, Yoko","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tsuji, Shoji","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nakashima, Mitsuko","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tsurusaki, Yoshinori","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Miyake, Noriko","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Saitsu, Hirotomo","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ikeda, Shu-ichi","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tanaka, Fumiaki","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Matsumoto, Naomichi","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yoshida, Kunihiro","creatorNameLang":"en"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2017-12-25"}],"displaytype":"detail","filename":"Late-onset_spastic_ataxia_phenotype__patient.pdf","filesize":[{"value":"750.3 kB"}],"format":"application/pdf","licensefree":"© 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/","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"Late-onset_spastic_ataxia_phenotype__patient.pdf","url":"https://soar-ir.repo.nii.ac.jp/record/19344/files/Late-onset_spastic_ataxia_phenotype__patient.pdf"},"version_id":"7b6b146b-53d8-4fae-966c-bf344691480f"}]},"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","subitem_title_language":"en"}]},"item_type_id":"6","owner":"1","path":["462"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2017-12-25"},"publish_date":"2017-12-25","publish_status":"0","recid":"19344","relation_version_is_last":true,"title":["Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2022-12-14T04:40:04.259010+00:00"}