{"id":"https://openalex.org/W2396490672","doi":null,"title":"[Case of CADASIL showing spontaneous subcortical hemorrhage with a novel mutation of Notch3 gene].","display_name":"[Case of CADASIL showing spontaneous subcortical hemorrhage with a novel mutation of Notch3 gene].","publication_year":2006,"publication_date":"2006-09-01","ids":{"openalex":"https://openalex.org/W2396490672","mag":"2396490672","pmid":"https://pubmed.ncbi.nlm.nih.gov/17260807"},"language":"ja","primary_location":{"id":"pmid:17260807","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17260807","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Rinsho shinkeigaku = Clinical neurology","raw_type":"Case Reports"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5054168070","display_name":"Satoshi Kotorii","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210118695","display_name":"Nagasaki Medical Center","ror":"https://ror.org/02qv90y91","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210118695","https://openalex.org/I4210137409"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Satoshi Kotorii","raw_affiliation_strings":["Division of Clinical Research, Nagasaki Medical Center of Neurology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Clinical Research, Nagasaki Medical Center of Neurology","institution_ids":["https://openalex.org/I4210118695"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103073747","display_name":"Hirofumi Goto","orcid":"https://orcid.org/0000-0003-4211-1692","observed_orcids":["https://orcid.org/0000-0003-4211-1692"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hirofumi Goto","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Takayuki Kondo","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Takayuki Kondo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050159678","display_name":"Hidenori Matsuo","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hidenori Matsuo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109180683","display_name":"Keikichi Takahashi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Keikichi Takahashi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5110766748","display_name":"Noritoshi Shibuya","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Noritoshi Shibuya","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":10,"citation_normalized_percentile":{"value":0.3599854,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"46","issue":"9","first_page":"644","last_page":"8"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13648","display_name":"Cerebrovascular and genetic disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T13648","display_name":"Cerebrovascular and genetic disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11763","display_name":"Intracerebral and Subarachnoid Hemorrhage Research","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10816","display_name":"Cerebrovascular and Carotid Artery Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/cadasil","display_name":"CADASIL","score":0.9950000047683716},{"id":"https://openalex.org/keywords/lacunar-infarction","display_name":"lacunar infarction","score":0.7670000195503235},{"id":"https://openalex.org/keywords/white-matter-hyperintensities","display_name":"white matter hyperintensities","score":0.9879999756813049},{"id":"https://openalex.org/keywords/antiplatelet-therapy","display_name":"antiplatelet therapy","score":0.7059999704360962},{"id":"https://openalex.org/keywords/recurrent-ischemic-stroke","display_name":"recurrent ischemic stroke","score":0.8259999752044678},{"id":"https://openalex.org/keywords/dementia","display_name":"dementia","score":0.5759999752044678},{"id":"https://openalex.org/keywords/gait-disturbance","display_name":"gait disturbance","score":0.6019999980926514},{"id":"https://openalex.org/keywords/familial-stroke","display_name":"familial stroke","score":0.5559999942779541}],"concepts":[{"id":"https://openalex.org/C2779268494","wikidata":"https://www.wikidata.org/wiki/Q1022718","display_name":"CADASIL","level":4,"score":0.9944911003112793},{"id":"https://openalex.org/C2778583010","wikidata":"https://www.wikidata.org/wiki/Q3237081","display_name":"Leukoencephalopathy","level":3,"score":0.865951418876648},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7800123691558838},{"id":"https://openalex.org/C2780645631","wikidata":"https://www.wikidata.org/wiki/Q671554","display_name":"Stroke (engine)","level":2,"score":0.5868271589279175},{"id":"https://openalex.org/C146638467","wikidata":"https://www.wikidata.org/wiki/Q10529587","display_name":"Hyperintensity","level":3,"score":0.5821189880371094},{"id":"https://openalex.org/C2776191500","wikidata":"https://www.wikidata.org/wiki/Q2123166","display_name":"Leukoaraiosis","level":4,"score":0.5287498831748962},{"id":"https://openalex.org/C2780966972","wikidata":"https://www.wikidata.org/wiki/Q86","display_name":"Headaches","level":2,"score":0.5223116278648376},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4694620668888092},{"id":"https://openalex.org/C2781192897","wikidata":"https://www.wikidata.org/wiki/Q822050","display_name":"White matter","level":3,"score":0.46504464745521545},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.42918169498443604},{"id":"https://openalex.org/C2777910003","wikidata":"https://www.wikidata.org/wiki/Q1707292","display_name":"Asymptomatic","level":2,"score":0.41964587569236755},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.4190291166305542},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.38581231236457825},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3719941973686218},{"id":"https://openalex.org/C143409427","wikidata":"https://www.wikidata.org/wiki/Q161238","display_name":"Magnetic resonance imaging","level":2,"score":0.36276835203170776},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3372144401073456},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.24818116426467896},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.18430295586585999},{"id":"https://openalex.org/C78519656","wikidata":"https://www.wikidata.org/wiki/Q101333","display_name":"Mechanical engineering","level":1,"score":0.0},{"id":"https://openalex.org/C127413603","wikidata":"https://www.wikidata.org/wiki/Q11023","display_name":"Engineering","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000071656","descriptor_name":"Receptor, Notch3","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000075202","descriptor_name":"Contraindications","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002540","descriptor_name":"Cerebral Cortex","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002543","descriptor_name":"Cerebral Hemorrhage","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D002543","descriptor_name":"Cerebral Hemorrhage","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010975","descriptor_name":"Platelet Aggregation Inhibitors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D046589","descriptor_name":"CADASIL","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D046589","descriptor_name":"CADASIL","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D046589","descriptor_name":"CADASIL","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051880","descriptor_name":"Receptors, Notch","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":1,"locations":[{"id":"pmid:17260807","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17260807","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Rinsho shinkeigaku = Clinical neurology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9907000064849854,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2165437184","https://openalex.org/W3205322558","https://openalex.org/W1750353608","https://openalex.org/W7133040944","https://openalex.org/W7036818064","https://openalex.org/W2395362988","https://openalex.org/W1971169496","https://openalex.org/W2962998563","https://openalex.org/W1516719735","https://openalex.org/W2417304931"],"abstract_inverted_index":{"The":[0],"case":[1],"of":[2,9,44,100,125,140],"a":[3,129,136],"72-year-old":[4],"demented":[5],"woman":[6],"having":[7],"episodes":[8,29],"strokes":[10],"without":[11],"any":[12],"risk":[13],"factors":[14],"for":[15],"cardiovascular":[16],"disease":[17,94,108],"is":[18,148],"reported.":[19],"Her":[20],"elder":[21],"brother":[22],"and":[23,38,52,60,69,104,117],"sister":[24],"have":[25],"also":[26],"had":[27],"stroke":[28,147],"since":[30,41],"their":[31],"middle":[32],"age.":[33],"She":[34,46],"experienced":[35],"hallucinations,":[36],"delusions,":[37],"recurrent":[39,145],"headaches":[40],"the":[42,65,78,101],"age":[43],"55.":[45],"has":[47],"gradually":[48],"developed":[49],"gait":[50],"disturbance":[51],"cognitive":[53],"impairment.":[54],"Brain":[55],"MRI":[56,72],"revealed":[57],"extensive":[58],"leukoaraiosis":[59],"multiple":[61],"lacunar":[62],"infarcts":[63,116],"in":[64,77,134],"deep":[66],"white":[67],"matter":[68],"brainstem.":[70],"Repeated":[71],"incidentally":[73],"disclosed":[74],"fresh":[75],"hemorrhage":[76],"dorsal":[79],"subcortical":[80,115],"temporal":[81],"lobe,":[82],"which":[83],"appeared":[84],"to":[85,143],"be":[86],"asymptomatic.":[87],"Anti-platelet":[88],"agents":[89],"were":[90],"not":[91,149],"used":[92],"during":[93],"progression.":[95],"We":[96],"detected":[97],"G975C":[98],"mutation":[99],"Notch3":[102],"gene":[103],"diagnosed":[105],"our":[106],"patient's":[107],"as":[109],"cerebral":[110],"autosomal":[111],"dominant":[112],"arteriopathy":[113,124],"with":[114],"leukoencephalopathy":[118],"(CADASIL).":[119],"This":[120],"report":[121],"suggests":[122],"that":[123],"CADASIL":[126],"could":[127],"cause":[128],"hemorrhagic":[130],"process,":[131],"indicating":[132],"that,":[133],"such":[135],"case,":[137],"routine":[138],"administration":[139],"anti-platelet":[141],"agent":[142],"prevent":[144],"ischemic":[146],"recommended.":[150]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}