{"id":"https://openalex.org/W2043778784","doi":"https://doi.org/10.1016/j.jalz.2012.05.1793","title":"P4\u2010091: Follow\u2010up of the first American report of familial Alzheimer's disease","display_name":"P4\u2010091: Follow\u2010up of the first American report of familial Alzheimer's disease","publication_year":2012,"publication_date":"2012-07-01","ids":{"openalex":"https://openalex.org/W2043778784","doi":"https://doi.org/10.1016/j.jalz.2012.05.1793","mag":"2043778784"},"language":"en","primary_location":{"id":"doi:10.1016/j.jalz.2012.05.1793","doi":"https://doi.org/10.1016/j.jalz.2012.05.1793","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jalz.2012.05.1793","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1016/j.jalz.2012.05.1793","source":{"id":"https://openalex.org/S108427512","display_name":"Alzheimer s & Dementia","issn_l":"1552-5260","issn":["1552-5260","1552-5279"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-3","ki-jl-3","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"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":"Alzheimer's & Dementia","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1016/j.jalz.2012.05.1793","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5047929315","display_name":"Bernardino Francesco Ghetti","orcid":"https://orcid.org/0000-0002-1842-8019","observed_orcids":["https://orcid.org/0000-0002-1842-8019"]},"institutions":[{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bernardino Ghetti","raw_affiliation_strings":["Indiana University, School of Medicine, Indianapolis, Indiana, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana University, School of Medicine, Indianapolis, Indiana, United States","institution_ids":["https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012334998","display_name":"Jill R. Murrell","orcid":"https://orcid.org/0000-0002-1885-8385","observed_orcids":["https://orcid.org/0000-0002-1885-8385"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jill Murrell","raw_affiliation_strings":["Indiana University Indianapolis Indiana United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana University Indianapolis Indiana United States","institution_ids":["https://openalex.org/I4388446366"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083886913","display_name":"Robert A. Koeppe","orcid":"https://orcid.org/0000-0002-9514-5311","observed_orcids":["https://orcid.org/0000-0002-9514-5311"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Robert Koeppe","raw_affiliation_strings":["University of Michigan Ann Arbor Michigan United States","University of Michigan Ann Arbor, Michigan, United States#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Michigan Ann Arbor Michigan United States","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"University of Michigan Ann Arbor, Michigan, United States#TAB#","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109066416","display_name":"Sid Gilman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sid Gilman","raw_affiliation_strings":["University of Michigan Ann Arbor Michigan United States","University of Michigan Ann Arbor, Michigan, United States#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Michigan Ann Arbor Michigan United States","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"University of Michigan Ann Arbor, Michigan, United States#TAB#","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007688766","display_name":"John K. Fink","orcid":"https://orcid.org/0000-0002-8039-530X","observed_orcids":["https://orcid.org/0000-0002-8039-530X"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John Fink","raw_affiliation_strings":["University of Michigan Ann Arbor Michigan United States","University of Michigan Ann Arbor, Michigan, United States#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Michigan Ann Arbor Michigan United States","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"University of Michigan Ann Arbor, Michigan, United States#TAB#","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071651772","display_name":"Leticia Miravalle","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Leticia Miravalle","raw_affiliation_strings":["Indiana University Indianapolis Indiana United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana University Indianapolis Indiana United States","institution_ids":["https://openalex.org/I4388446366"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002817065","display_name":"Roger L. Albin","orcid":"https://orcid.org/0000-0002-0629-608X","observed_orcids":["https://orcid.org/0000-0002-0629-608X"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Roger Albin","raw_affiliation_strings":["University of Michigan Ann Arbor Michigan United States","University of Michigan Ann Arbor, Michigan, United States#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Michigan Ann Arbor Michigan United States","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"University of Michigan Ann Arbor, Michigan, United States#TAB#","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054119993","display_name":"Rub\u00e9n Vidal","orcid":"https://orcid.org/0000-0002-5803-3871","observed_orcids":["https://orcid.org/0000-0002-5803-3871"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ruben Vidal","raw_affiliation_strings":["Indiana University Indianapolis Indiana United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana University Indianapolis Indiana United States","institution_ids":["https://openalex.org/I4388446366"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5019373426","display_name":"Norman L. Foster","orcid":"https://orcid.org/0000-0002-9969-2160","observed_orcids":["https://orcid.org/0000-0002-9969-2160"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Norman Foster","raw_affiliation_strings":["University of Utah, Salt Lake City, Utah United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Utah, Salt Lake City, Utah United States","institution_ids":["https://openalex.org/I223532165"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4200,"currency":"USD","value_usd":4200},"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.15799374,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"8","issue":"4S_Part_18","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.9872999787330627,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T10086","display_name":"Alzheimer's disease research and treatments","score":0.9872999787330627,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.011800000444054604,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"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/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"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/familial-alzheimer-s-disease","display_name":"familial Alzheimer's disease","score":0.9879999756813049}],"concepts":[{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.574799656867981},{"id":"https://openalex.org/C68026918","wikidata":"https://www.wikidata.org/wiki/Q1970256","display_name":"Senile plaques","level":4,"score":0.5511602163314819},{"id":"https://openalex.org/C2781192897","wikidata":"https://www.wikidata.org/wiki/Q822050","display_name":"White matter","level":3,"score":0.523581862449646},{"id":"https://openalex.org/C2992333117","wikidata":"https://www.wikidata.org/wiki/Q130983","display_name":"Cerebellar cortex","level":3,"score":0.46625009179115295},{"id":"https://openalex.org/C2779652256","wikidata":"https://www.wikidata.org/wiki/Q130983","display_name":"Cerebellum","level":2,"score":0.46416428685188293},{"id":"https://openalex.org/C2781041448","wikidata":"https://www.wikidata.org/wiki/Q75839","display_name":"Cerebral cortex","level":2,"score":0.4434203505516052},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.4278098940849304},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.4196354150772095},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.41911664605140686},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.39098846912384033},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.33155667781829834},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.31374597549438477},{"id":"https://openalex.org/C143409427","wikidata":"https://www.wikidata.org/wiki/Q161238","display_name":"Magnetic resonance imaging","level":2,"score":0.20933392643928528},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1016/j.jalz.2012.05.1793","doi":"https://doi.org/10.1016/j.jalz.2012.05.1793","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jalz.2012.05.1793","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1016/j.jalz.2012.05.1793","source":{"id":"https://openalex.org/S108427512","display_name":"Alzheimer s & Dementia","issn_l":"1552-5260","issn":["1552-5260","1552-5279"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-3","ki-jl-3","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"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":"Alzheimer's & Dementia","raw_type":"journal-article"},{"id":"pmh:oai:deepblue.lib.umich.edu:2027.42/152832","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/2027.42/152832","pdf_url":"https://hdl.handle.net/2027.42/152832","source":{"id":"https://openalex.org/S4306400393","display_name":"Deep Blue (University of Michigan)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I27837315","host_organization_name":"University of Michigan","host_organization_lineage":["https://openalex.org/I27837315"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1016/j.jalz.2012.05.1793","doi":"https://doi.org/10.1016/j.jalz.2012.05.1793","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jalz.2012.05.1793","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1016/j.jalz.2012.05.1793","source":{"id":"https://openalex.org/S108427512","display_name":"Alzheimer s & Dementia","issn_l":"1552-5260","issn":["1552-5260","1552-5279"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-3","ki-jl-3","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"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":"Alzheimer's & Dementia","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.6100000143051147}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2043778784.pdf","grobid_xml":"https://content.openalex.org/works/W2043778784.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1586314367","https://openalex.org/W1970768054","https://openalex.org/W2042743269","https://openalex.org/W4233710322","https://openalex.org/W2397220074","https://openalex.org/W2053292479","https://openalex.org/W2801312068","https://openalex.org/W4415597515","https://openalex.org/W2010439816","https://openalex.org/W1970331959"],"abstract_inverted_index":{"Lowenberg":[0,281],"and":[1,45,104,109,134,173,185,202,220,250,257,263,282,284,306],"Waggoner":[2,283],"in":[3,20,49,113,138,189,199,208,217,253,291,304,308,318],"1934":[4],"reported":[5,303,321],"5":[6],"members":[7,35],"from":[8,155],"2":[9,156],"generations":[10],"of":[11,17,24,59,70,80,97,141,145,170,178,228,241,266,289,296],"a":[12,89,226],"Michigan":[13,71],"family":[14],"with":[15,164,271],"onset":[16],"dementia":[18],"early":[19],"the":[21,27,50,56,68,73,139,142,190,209,218,254,285,293,297,310,319],"4th":[22],"decade":[23,144],"life.":[25,146],"Although":[26],"published":[28],"pathology":[29],"appeared":[30],"to":[31,87,157,315],"indicate":[32],"AD,":[33],"affected":[34,63,95],"had":[36],"several":[37,232],"unusual":[38],"features,":[39],"including":[40,167],"unsteady":[41],"gait,":[42],"seizures,":[43],"spasticity,":[44],"extensive":[46],"neuritic":[47,184],"plaques":[48,188],"basal":[51],"ganglia,":[52],"raising":[53],"uncertainty":[54],"about":[55],"appropriate":[57],"classification":[58],"this":[60,98],"family.":[61,82],"Two":[62,94],"individuals":[64,84,130,320],"studied":[65,101],"clinically":[66],"at":[67],"University":[69],"during":[72],"1990s":[74],"were":[75,85,100,121,148,196,206],"identified":[76,161],"as":[77],"being":[78],"descendents":[79],"that":[81,237,316],"Both":[83],"found":[86],"have":[88],"PSEN1":[90,273],"gene":[91],"mutation":[92,272],"(I143T).":[93],"siblings":[96,180],"kindred":[99],"clinically,":[102],"neuroradiologically,":[103],"neuropathologically":[105],"using":[106,124,225],"established":[107],"protocols":[108],"procedures":[110],"typically":[111],"used":[112],"NIA-funded":[114],"Alzheimer's":[115,268],"disease":[116,152,269],"centers.":[117],"PET":[118,165],"imaging":[119],"studies":[120,177,224],"carried":[122],"out":[123],"18":[125],"F-2-fluoro-2-deoxy-D-glucose":[126],"(18":[127],"F-FDG).":[128],"Affected":[129],"presented":[131],"personality":[132],"changes":[133],"memory":[135],"loss":[136],"beginning":[137],"middle":[140],"fourth":[143],"Seizures":[147],"also":[149,197],"common.":[150],"The":[151,261,277],"duration":[153],"ranged":[154],"7":[158],"years.":[159],"We":[160],"metabolic":[162],"abnormalities":[163],"scanning":[166],"typical":[168],"pattern":[169],"temporoparietal":[171],"hypometabolism":[172],"cerebellar":[174,221],"hypometabolism.":[175],"Neuropathologic":[176],"both":[179],"revealed":[181,247],"numerous":[182],"A\u03b2-immunopositive":[183],"cotton":[186],"wool":[187],"cerebral":[191,219],"cortex.":[192],"Abundant":[193],"A\u03b2":[194,244],"deposits":[195,205],"present":[198],"subcortical":[200,210,259],"nuclei":[201],"cerebellum.":[203],"Amyloid":[204,213],"seen":[207,317],"white":[211],"matter.":[212],"angiopathy":[214],"was":[215],"severe":[216],"cortices.":[222],"Immunohistochemical":[223],"panel":[227],"antibodies":[229],"raised":[230],"against":[231],"amyloid":[233],"\u03b2":[234],"epitopes":[235],"suggest":[236],"there":[238],"is":[239],"deposition":[240],"truncated":[242],"amino-terminal":[243],"fragments.":[245],"Tau-immunostaining":[246],"neurofibrillary":[248],"tangles":[249],"neuropil":[251],"threads":[252],"neocortex,":[255],"hippocampus":[256],"some":[258],"nuclei.":[260],"clinical":[262,311],"neuropathologic":[264],"phenotypes":[265],"familial":[267],"association":[270],"I143T":[274],"are":[275,288],"described.":[276],"original":[278],"description":[279],"by":[280],"current":[286],"results":[287],"interest":[290],"defining":[292],"natural":[294],"history":[295],"disease.":[298],"In":[299],"two":[300],"families,":[301],"one":[302,307],"Belgium":[305],"Sweden,":[309],"phenotype":[312],"appears":[313],"similar":[314],"here.":[322]},"counts_by_year":[],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2016-06-24T00:00:00"}