{"created":"2024-06-07T08:35:18.081965+00:00","id":2000356,"links":{},"metadata":{"_buckets":{"deposit":"e9d08022-230a-439e-af7e-034524af562f"},"_deposit":{"created_by":29,"id":"2000356","owners":[29],"pid":{"revision_id":0,"type":"depid","value":"2000356"},"status":"published"},"_oai":{"id":"oai:ir.kagoshima-u.ac.jp:02000356","sets":["57:86"]},"author_link":["144135"],"item_5_date_6":{"attribute_name":"作成日","attribute_value_mlt":[{"subitem_date_issued_datetime":"2024-03-08","subitem_date_issued_type":"Collected"}]},"item_5_date_granted_54":{"attribute_name":"学位授与年月日 ","attribute_value_mlt":[{"subitem_dategranted":"2024-03-25"}]},"item_5_degree_grantor_53":{"attribute_name":"学位授与機関","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_language":"ja","subitem_degreegrantor_name":"鹿児島大学"}],"subitem_degreegrantor_identifier":[{"subitem_degreegrantor_identifier_name":"17701","subitem_degreegrantor_identifier_scheme":"kakenhi"}]}]},"item_5_degree_name_42":{"attribute_name":"学位名","attribute_value_mlt":[{"subitem_degreename":"博士(医学)","subitem_degreename_language":"ja"},{"subitem_degreename":"Doctor of Philosophy in Medical Science","subitem_degreename_language":"en"}]},"item_5_description_17":{"attribute_name":"ファイル（説明）","attribute_value_mlt":[{"subitem_description":"博士論文全文, 博士論文要旨, 最終試験結果の要旨, 論文審査の要旨","subitem_description_language":"ja","subitem_description_type":"Other"}]},"item_5_description_4":{"attribute_name":"要約(Abstract)","attribute_value_mlt":[{"subitem_description":"Background and objective: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebral microvascular disease characterized by the development of vascular dementia and lacunar infarctions. This study aimed to identify the genetic and clinical features of CADASIL in Japan.\nMethods: We conducted genetic analysis on a case series of patients clinically diagnosed with CADASIL. Clinical and imaging analyses were performed on 32 patients with pathogenic mutations in the NOTCH3 gene. To assess the presence of cerebral microbleeds (CMBs), we utilized several established rating scales including the Fazekas scale, Scheltens rating scale, and Microbleed Anatomical Rating Scale, based on brain MRI images.\nResults: Among the 32 CADASIL patients, 24 cases were found carrying the R75P mutation in NOTCH3, whereas the remaining eight cases had other NOTCH3 mutations (R75Q, R110C, C134F, C144F, R169C, and R607C). The haplotype analysis of the R75P mutation uncovered the presence of a founder effect. A brain MRI analysis revealed that cases with the R75P mutation had a significantly higher total number of CMBs, particularly in the thalamus when compared to patients with other NOTCH3 mutations. Among 15 out of 24 cases with the R75P mutation, we observed a notable clustering of CMBs in the thalamus, termed microbleed clustering in thalamus sign (MCT sign).\nConclusion: We propose that the MCT sign observed in NOTCH3 R75P-related CADASIL patients may serve as a potentially characteristic imaging feature. This finding offers further insights into the interactions between genotypes and phenotypes between NOTCH3 and CADASIL.","subitem_description_language":"en","subitem_description_type":"Other"},{"subitem_description":"Takei J, Higuchi Y, Ando M, Yoshimura A, Yuan J-H, Fujisaki N, Tokashiki T, Kanzato N, Jonosono M, Sueyoshi T, Kanda N, Matsuoka H, Okubo R, Suehara M, Matsuura E and Takashima H\nMicrobleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation\nFront. Neurol. 14:1241678\nhttps://doi.org/10.3389/fneur.2023.1241678","subitem_description_language":"en","subitem_description_type":"Other"}]},"item_5_dissertation_number_55":{"attribute_name":"学位授与番号","attribute_value_mlt":[{"subitem_dissertationnumber":"甲総研第735号"}]},"item_5_publisher_23":{"attribute_name":"公開者・出版者","attribute_value_mlt":[{"subitem_publisher":"Frontiers","subitem_publisher_language":"en"},{"subitem_publisher":"鹿児島大学","subitem_publisher_language":"ja"}]},"item_5_text_44":{"attribute_name":"備考","attribute_value_mlt":[{"subitem_text_language":"ja","subitem_text_value":"【指導教員:髙嶋博】"}]},"item_5_text_47":{"attribute_name":"date.appl","attribute_value_mlt":[{"subitem_text_value":"【学位申請日】2024-01-10"}]},"item_5_version_type_14":{"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":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"武井, 潤","creatorNameLang":"ja"},{"creatorName":"Takei, Jun","creatorNameLang":"en"}],"familyNames":[{"familyName":"武井","familyNameLang":"ja"},{"familyName":"Takei","familyNameLang":"en"}],"givenNames":[{"givenName":"潤","givenNameLang":"ja"},{"givenName":"Jun","givenNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"144135","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":"2025-09-11"}],"displaytype":"detail","fileDate":[{"fileDateType":"Collected","fileDateValue":"2024-03-08"}],"filename":"Diss_TAKEI_Jun_ISK735_2023.pdf","filesize":[{"value":"885.5 KB"}],"format":"application/pdf","licensetype":"license_0","mimetype":"application/pdf","url":{"label":"Diss_TAKEI_Jun_ISK735_2023.pdf","objectType":"fulltext","url":"https://ir.kagoshima-u.ac.jp/record/2000356/files/Diss_TAKEI_Jun_ISK735_2023.pdf"},"version_id":"824cf0e1-4b80-4da8-9cde-6738e92e21ec"},{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2025-09-11"}],"displaytype":"detail","fileDate":[{"fileDateType":"Collected","fileDateValue":"2024-03-08"}],"filename":"Abstract_TAKEI_Jun_4520810161_2023.pdf","filesize":[{"value":"23.3 KB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"label":"Abstract_TAKEI_Jun_4520810161_2023.pdf","objectType":"abstract","url":"https://ir.kagoshima-u.ac.jp/record/2000356/files/Abstract_TAKEI_Jun_4520810161_2023.pdf"},"version_id":"f6789095-892f-4efa-9890-4e9e99632b04"},{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2024-06-07"}],"displaytype":"detail","fileDate":[{"fileDateType":"Collected","fileDateValue":"2024-03-08"}],"filename":"Result_TAKEI_Jun_isk_735.pdf","filesize":[{"value":"218 KB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"label":"Result_TAKEI_Jun_isk_735","objectType":"other","url":"https://ir.kagoshima-u.ac.jp/record/2000356/files/Result_TAKEI_Jun_isk_735.pdf"},"version_id":"aa26f926-f236-4a9c-953c-c578623909c0"},{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2024-06-07"}],"displaytype":"detail","fileDate":[{"fileDateType":"Collected","fileDateValue":"2024-03-08"}],"filename":"Comments_TAKEI_Jun_isk_735.pdf","filesize":[{"value":"142 KB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"label":"Comments_TAKEI_Jun_isk_735","objectType":"other","url":"https://ir.kagoshima-u.ac.jp/record/2000356/files/Comments_TAKEI_Jun_isk_735.pdf"},"version_id":"dbe58c1a-a0fd-4710-81dc-1ddac0eec02d"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"CADASIL","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"NOTCH3","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"R75P","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"CMBs","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"thalamus","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"MCT sign","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"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":"doctoral thesis","resourceuri":"http://purl.org/coar/resource_type/c_db06"}]},"item_title":"Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation","subitem_title_language":"en"},{"subitem_title":"NOTCH3 R75P変異のCADASILにおける視床の微小出血集積徴候(MCTサイン)","subitem_title_language":"ja"}]},"item_type_id":"5","owner":"29","path":["86"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2024-06-07"},"publish_date":"2024-06-07","publish_status":"0","recid":"2000356","relation_version_is_last":true,"title":["Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation"],"weko_creator_id":"29","weko_shared_id":-1},"updated":"2026-03-03T14:57:30.733564+00:00"}