{"id":"https://openalex.org/W2108478355","doi":"https://doi.org/10.1111/j.1440-1789.2008.00883.x","title":"An autopsy case of Fabry disease with neuropathological investigation of the pathogenesis of associated dementia","display_name":"An autopsy case of Fabry disease with neuropathological investigation of the pathogenesis of associated dementia","publication_year":2008,"publication_date":"2008-04-11","ids":{"openalex":"https://openalex.org/W2108478355","doi":"https://doi.org/10.1111/j.1440-1789.2008.00883.x","mag":"2108478355","pmid":"https://pubmed.ncbi.nlm.nih.gov/18410273"},"language":"en","primary_location":{"id":"doi:10.1111/j.1440-1789.2008.00883.x","doi":"https://doi.org/10.1111/j.1440-1789.2008.00883.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1440-1789.2008.00883.x","pdf_url":null,"source":{"id":"https://openalex.org/S43667197","display_name":"Neuropathology","issn_l":"0919-6544","issn":["0919-6544","1440-1789"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","norway-1","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuropathology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","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/A5021707683","display_name":"Riki Okeda","orcid":"https://orcid.org/0000-0001-5475-1860","observed_orcids":["https://orcid.org/0000-0001-5475-1860"]},"institutions":[{"id":"https://openalex.org/I4405253942","display_name":"Kawasaki Saiwai Hospital","ror":"https://ror.org/017s8ee04","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405253942"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Riki Okeda","raw_affiliation_strings":["Department of Pathology, Kawasaki-Saiwai Hospital, 39-1 Miyako-cho, Saiwai-ku, Japan. okeriki@hotmail.com","Department of Pathology, Kawasaki\u2010Saiwai Hospital, 39\u20101 Miyako\u2010cho, Saiwai\u2010ku, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Kawasaki-Saiwai Hospital, 39-1 Miyako-cho, Saiwai-ku, Japan. okeriki@hotmail.com","institution_ids":["https://openalex.org/I4405253942"]},{"raw_affiliation_string":"Department of Pathology, Kawasaki\u2010Saiwai Hospital, 39\u20101 Miyako\u2010cho, Saiwai\u2010ku, and","institution_ids":["https://openalex.org/I4405253942"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5065241685","display_name":"Masahiro Nisihara","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Masahiro Nisihara","raw_affiliation_strings":["Department of Medicine, Kawasaki Clinic, 17-1 Ogawa-cho, Kawasaki-ku, Kawasaki-shi, Kanagawa-ken, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Kawasaki Clinic, 17-1 Ogawa-cho, Kawasaki-ku, Kawasaki-shi, Kanagawa-ken, Japan","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5021707683"],"corresponding_institution_ids":["https://openalex.org/I4405253942"],"apc_list":{"value":3400,"currency":"USD","value_usd":3400},"apc_paid":null,"fwci":2.8248,"has_fulltext":false,"cited_by_count":69,"citation_normalized_percentile":{"value":0.89449113,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"28","issue":"5","first_page":"532","last_page":"540"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/fabry-disease","display_name":"Fabry disease","score":1.0},{"id":"https://openalex.org/keywords/dementia","display_name":"dementia","score":0.9179999828338623},{"id":"https://openalex.org/keywords/axonopathy","display_name":"axonopathy","score":0.6690000295639038},{"id":"https://openalex.org/keywords/leukoencephalopathy","display_name":"leukoencephalopathy","score":0.9240000247955322},{"id":"https://openalex.org/keywords/deep-white-matter","display_name":"deep white matter","score":0.7080000042915344},{"id":"https://openalex.org/keywords/cerebral-microangiopathy","display_name":"cerebral microangiopathy","score":0.6790000200271606},{"id":"https://openalex.org/keywords/arterial-fibrosis","display_name":"arterial fibrosis","score":0.6309999823570251},{"id":"https://openalex.org/keywords/ischemia","display_name":"ischemia","score":0.5329999923706055},{"id":"https://openalex.org/keywords/heart-failure","display_name":"heart failure","score":0.8429999947547913},{"id":"https://openalex.org/keywords/kidney-failure","display_name":"renal failure","score":0.6200000047683716},{"id":"https://openalex.org/keywords/white-matter-hyperintensities","display_name":"white matter hyperintensities","score":0.6579999923706055}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7531852722167969},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.7089167833328247},{"id":"https://openalex.org/C2779504383","wikidata":"https://www.wikidata.org/wiki/Q41482","display_name":"Autopsy","level":2,"score":0.5920807719230652},{"id":"https://openalex.org/C2781192897","wikidata":"https://www.wikidata.org/wiki/Q822050","display_name":"White matter","level":3,"score":0.49185776710510254},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.4646923243999481},{"id":"https://openalex.org/C2909637497","wikidata":"https://www.wikidata.org/wiki/Q615645","display_name":"Fabry's disease","level":4,"score":0.4616903066635132},{"id":"https://openalex.org/C2780559512","wikidata":"https://www.wikidata.org/wiki/Q605709","display_name":"Fibrosis","level":2,"score":0.4533124268054962},{"id":"https://openalex.org/C2778583010","wikidata":"https://www.wikidata.org/wiki/Q3237081","display_name":"Leukoencephalopathy","level":3,"score":0.444894015789032},{"id":"https://openalex.org/C2780942790","wikidata":"https://www.wikidata.org/wiki/Q372016","display_name":"Pathogenesis","level":2,"score":0.4407649636268616},{"id":"https://openalex.org/C2777404818","wikidata":"https://www.wikidata.org/wiki/Q615645","display_name":"Fabry disease","level":3,"score":0.37544411420822144},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.3419821858406067},{"id":"https://openalex.org/C143409427","wikidata":"https://www.wikidata.org/wiki/Q161238","display_name":"Magnetic resonance imaging","level":2,"score":0.19217976927757263},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.16217893362045288},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000795","descriptor_name":"Fabry Disease","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D000795","descriptor_name":"Fabry Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D001099","descriptor_name":"Arachnoid","qualifier_ui":"Q000098","qualifier_name":"blood supply","is_major_topic":false},{"descriptor_ui":"D001099","descriptor_name":"Arachnoid","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001344","descriptor_name":"Autopsy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D006333","descriptor_name":"Heart Failure","qualifier_ui":"Q000209","qualifier_name":"etiology","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010538","descriptor_name":"Peritonitis","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D011654","descriptor_name":"Pulmonary Edema","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D014057","descriptor_name":"Tomography, X-Ray Computed","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015140","descriptor_name":"Dementia, Vascular","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D015140","descriptor_name":"Dementia, Vascular","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D020521","descriptor_name":"Stroke","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D020521","descriptor_name":"Stroke","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D051437","descriptor_name":"Renal Insufficiency","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1111/j.1440-1789.2008.00883.x","doi":"https://doi.org/10.1111/j.1440-1789.2008.00883.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1440-1789.2008.00883.x","pdf_url":null,"source":{"id":"https://openalex.org/S43667197","display_name":"Neuropathology","issn_l":"0919-6544","issn":["0919-6544","1440-1789"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","norway-1","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuropathology","raw_type":"journal-article"},{"id":"pmid:18410273","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18410273","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":"Neuropathology : official journal of the Japanese Society of Neuropathology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":27,"referenced_works":["https://openalex.org/W72074516","https://openalex.org/W91476628","https://openalex.org/W1580954358","https://openalex.org/W1940569883","https://openalex.org/W1966028455","https://openalex.org/W1970210763","https://openalex.org/W1992161571","https://openalex.org/W2005201918","https://openalex.org/W2005360742","https://openalex.org/W2009480509","https://openalex.org/W2013554277","https://openalex.org/W2028854729","https://openalex.org/W2054385538","https://openalex.org/W2063083256","https://openalex.org/W2071463936","https://openalex.org/W2079726914","https://openalex.org/W2081153395","https://openalex.org/W2088422862","https://openalex.org/W2103575664","https://openalex.org/W2110388288","https://openalex.org/W2136807322","https://openalex.org/W2270420386","https://openalex.org/W2321507369","https://openalex.org/W2331829704","https://openalex.org/W2403526866","https://openalex.org/W2411727673","https://openalex.org/W2468653414"],"related_works":["https://openalex.org/W1966028455","https://openalex.org/W2136807322","https://openalex.org/W7099083798","https://openalex.org/W2002851525","https://openalex.org/W4409870234","https://openalex.org/W1982968882","https://openalex.org/W2109003387","https://openalex.org/W2424265109","https://openalex.org/W1931689468","https://openalex.org/W4389066553"],"abstract_inverted_index":{"The":[0,15,59,184],"pathogenesis":[1],"of":[2,29,49,54,67,117,126,160,173,178,198,228],"dementia":[3,211],"associated":[4,165,212],"with":[5,150,154,166,213],"Fabry":[6,132,214],"disease":[7],"was":[8,17,99,120],"examined":[9],"neuropathologically":[10],"in":[11,37,69,78,87,103,142,186,200],"an":[12],"autopsy":[13],"case.":[14],"patient":[16],"a":[18,88],"47-year-old":[19],"computer":[20],"programmer":[21],"who":[22],"developed":[23],"renal":[24],"failure":[25],"at":[26],"the":[27,55,70,104,127,174,201,210],"age":[28],"36,":[30],"necessitating":[31],"peritoneal":[32],"dialysis,":[33],"and":[34,45,73,92,110,147,171,216,226,232],"thereafter":[35],"suffered":[36],"succession":[38],"episodic":[39],"pulmonary":[40],"congestion,":[41],"bradyacusia,":[42],"heart":[43,234],"failure,":[44],"dementia,":[46],"before":[47],"dying":[48],"acute":[50],"myocardial":[51],"infarction.":[52],"MRI":[53],"brain":[56],"demonstrated":[57],"leuko-araiosis.":[58],"CNS":[60],"parenchyma":[61],"showed":[62],"widespread":[63,155,224],"segmental":[64],"hydropic":[65,196],"swelling":[66,98,197],"axons":[68,199],"bilateral":[71,202],"cerebral":[72,203],"cerebellar":[74],"deep":[75,204],"white":[76,205],"matter":[77,206],"addition":[79],"to":[80,84,131,194],"neuronal":[81],"ballooning":[82],"due":[83,130,193],"glycolipid":[85,140],"storage":[86],"few":[89],"restricted":[90],"nuclei":[91],"multiple":[93],"tiny":[94],"lacunae.":[95],"Hydropic":[96],"axonal":[97],"also":[100],"sparsely":[101],"distributed":[102],"pyramidal":[105],"tract,":[106],"pedunculus":[107],"cerebellaris":[108],"superior":[109],"brachium":[111],"colliculi":[112],"inferioris,":[113],"but":[114],"wallerian":[115],"degeneration":[116],"these":[118],"tracts":[119],"absent.":[121],"Additional":[122],"features":[123],"included":[124],"angiopathy":[125],"subarachnoidal":[128,230],"arteries":[129,231],"disease,":[133,215],"such":[134],"as":[135],"medial":[136,161],"thickening":[137,170],"resulting":[138,222],"from":[139,223],"deposition":[141],"smooth":[143],"muscle":[144],"cells":[145],"(SMCs)":[146],"adventitial":[148],"fibrosis":[149],"lymphocytic":[151],"infiltration,":[152],"together":[153],"subtotal":[156],"or":[157],"total":[158],"replacement":[159],"SMCs":[162],"by":[163,220],"fibrosis,":[164],"prominent":[167],"intimal":[168],"fibrous":[169],"undulation":[172],"internal":[175],"elastic":[176],"membrane":[177],"medium-sized":[179,229],"(1000-100":[180],"microm":[181],"diameter)":[182],"arteries.":[183],"findings":[185],"this":[187],"case":[188],"suggest":[189],"that":[190],"axonopathic":[191],"leukoencephalopathy":[192],"multisegmental":[195],"is":[207],"responsible":[208],"for":[209],"may":[217],"be":[218],"caused":[219],"ischemia":[221],"narrowing":[225],"stiffening":[227],"progressive":[233],"failure.":[235]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":9},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":5},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":5}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
