{"created":"2021-03-01T06:23:27.768252+00:00","id":18679,"links":{},"metadata":{"_buckets":{"deposit":"2830f0f5-d892-4729-8950-2d21463acd2d"},"_deposit":{"id":"18679","owners":[],"pid":{"revision_id":0,"type":"depid","value":"18679"},"status":"published"},"_oai":{"id":"oai:niigata-u.repo.nii.ac.jp:00018679","sets":["453:456","471:537:538:1139"]},"item_7_alternative_title_1":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"Clinical Features of Machado-Joseph Disease : a Special Reference for Differential Diagnosis of Autosomal Dominant Ataxia, SCA-1, SCA-2 and DRPLA (Pathophysiology of Hereditary Neurologic Diseases)"}]},"item_7_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"1995-04","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"4","bibliographicPageEnd":"161","bibliographicPageStart":"155","bibliographicVolumeNumber":"109","bibliographic_titles":[{"bibliographic_title":"新潟医学会雑誌"},{"bibliographic_title":"新潟医学会雑誌","bibliographic_titleLang":"en"}]}]},"item_7_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Recent advances in molecular genetics has clarified the disease locus in the chromosomal mapping, including chromosome 6p for SCA-1, chromosome 12q for Menzel (SCA-2), chromosomal 12p for DRPLA, and chromosome 14q for MJD. In this article I will discuss about the clinical viewpoints, which favorate for making the differential diagnosis of Machado-Joseph disease (MJD) from other form of autosomal dominant spinocerebellar atrophy, including Yakura (SCA-1), Menzel (SCA-2), and DRPLA. The symptoms and signs of cerebellar ataxia, including gait ataxia are the most common features among these dominantly inherited ataxic diseases, and there are only a few but important markers left for differential diagnosis. The overt external ophtalmoplegia is a cardinal feature for MJD as well as for SCA-1, but not for DRPLA and SCA-2. Slow saccade eye movement is a popular sign for both SCA-1 and SCA-2. Mental deterioration and dementia are scarecely seen in patients with MJD, but are frequently seen in DRPLA, SCA-1 and also in SCA-2. Epileptic seizure is hardly seen in MJD, and SCA-1 and SCA-2, but is one of important features of DRPLA. Investigation of family members of these diseases is needed for making clinical and genetical diagnosis precisely.","subitem_description_type":"Abstract"}]},"item_7_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"116739","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Yuasa, Tatsuhiko"}]}]},"item_7_publisher_7":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"新潟医学会"}]},"item_7_select_19":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"publisher"}]},"item_7_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN00182415","subitem_source_identifier_type":"NCID"}]},"item_7_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"00290440","subitem_source_identifier_type":"ISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"湯浅, 龍彦"}],"nameIdentifiers":[{"nameIdentifier":"116738","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2019-08-08"}],"displaytype":"detail","filename":"109(4)_155-161.pdf","filesize":[{"value":"1.3 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"109(4)_155-161.pdf","url":"https://niigata-u.repo.nii.ac.jp/record/18679/files/109(4)_155-161.pdf"},"version_id":"b88c0d63-043d-4c2b-b004-3aa9ddb87e73"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Machado-Joseph disease","subitem_subject_scheme":"Other"},{"subitem_subject":"SCA-1","subitem_subject_scheme":"Other"},{"subitem_subject":"SCA-2","subitem_subject_scheme":"Other"},{"subitem_subject":"DRPLA","subitem_subject_scheme":"Other"},{"subitem_subject":"脊髄小脳変性症","subitem_subject_scheme":"Other"},{"subitem_subject":"ジョセフ病","subitem_subject_scheme":"Other"},{"subitem_subject":"メンツェル病","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝性 OPCA","subitem_subject_scheme":"Other"},{"subitem_subject":"歯状核","subitem_subject_scheme":"Other"},{"subitem_subject":"赤核","subitem_subject_scheme":"Other"},{"subitem_subject":"淡蒼球","subitem_subject_scheme":"Other"},{"subitem_subject":"ルイ体萎縮症","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":"1)Machado-Joseph病の臨床像について : 特に周辺疾患との鑑別を中心に(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会)","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"1)Machado-Joseph病の臨床像について : 特に周辺疾患との鑑別を中心に(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会)"},{"subitem_title":"1)Machado-Joseph病の臨床像について : 特に周辺疾患との鑑別を中心に(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会)","subitem_title_language":"en"}]},"item_type_id":"7","owner":"1","path":["456","1139"],"pubdate":{"attribute_name":"公開日","attribute_value":"2016-06-27"},"publish_date":"2016-06-27","publish_status":"0","recid":"18679","relation_version_is_last":true,"title":["1)Machado-Joseph病の臨床像について : 特に周辺疾患との鑑別を中心に(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会)"],"weko_creator_id":"1","weko_shared_id":null},"updated":"2022-12-15T03:49:47.526867+00:00"}