{"id":"https://openalex.org/W199744283","doi":null,"title":"Genetic Screening in Alzheimer's Disease","display_name":"Genetic Screening in Alzheimer's Disease","publication_year":2000,"publication_date":"2000-04-01","ids":{"openalex":"https://openalex.org/W199744283","mag":"199744283"},"language":"en","primary_location":{"id":"pmh:oai:repository.library.georgetown.edu:10822/508735","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/10822/508735","pdf_url":null,"source":{"id":"https://openalex.org/S4306402467","display_name":"DigitalGeorgetown (Georgetown University Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210145449","host_organization_name":"Center for Security and Emerging Technology","host_organization_lineage":["https://openalex.org/I4210145449"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"215928","raw_type":null},"volume":null,"type":"article","indexed_in":[],"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/A5050004777","display_name":"Rudolph E. Tanzi","orcid":"https://orcid.org/0000-0002-7032-1454","observed_orcids":["https://orcid.org/0000-0002-7032-1454"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rudolph E. Tanzi","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-7032-1454","affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5006645872","display_name":"Deborah Blacker","orcid":"https://orcid.org/0000-0001-6107-7376","observed_orcids":["https://orcid.org/0000-0001-6107-7376"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Deborah Blacker","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.02042084,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"24","issue":"1","first_page":"58","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":0.8413000106811523,"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":0.8413000106811523,"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":0.15539999306201935,"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":0.00019999999494757503,"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/alzheimer-s-disease","display_name":"Alzheimer's disease","score":0.9959999918937683},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.8600000143051147},{"id":"https://openalex.org/keywords/genetic-screening","display_name":"genetic screening","score":0.6499999761581421},{"id":"https://openalex.org/keywords/amyloid-precursor-protein","display_name":"amyloid precursor protein","score":0.6790000200271606},{"id":"https://openalex.org/keywords/presenilin-1","display_name":"presenilin 1","score":0.8830000162124634},{"id":"https://openalex.org/keywords/psen2","display_name":"presenilin 2","score":0.972000002861023},{"id":"https://openalex.org/keywords/apolipoprotein-e","display_name":"apolipoprotein E","score":0.9539999961853027},{"id":"https://openalex.org/keywords/early-onset-alzheimer-s-disease","display_name":"early-onset Alzheimer's disease","score":0.7799999713897705},{"id":"https://openalex.org/keywords/late-onset-alzheimer-s-disease","display_name":"late-onset Alzheimer's disease","score":0.9959999918937683},{"id":"https://openalex.org/keywords/genetic-risk-factors","display_name":"genetic risk factors","score":0.6389999985694885},{"id":"https://openalex.org/keywords/mild-cognitive-impairment","display_name":"mild cognitive impairment","score":0.6970000267028809},{"id":"https://openalex.org/keywords/dementia","display_name":"dementia","score":0.4309999942779541},{"id":"https://openalex.org/keywords/genetic-profiling","display_name":"genetic profiling","score":0.5260000228881836},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.640999972820282},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.4440000057220459},{"id":"https://openalex.org/keywords/genetic-prediction","display_name":"genetic prediction","score":0.47600001096725464}],"concepts":[{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.7018002867698669},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.660545825958252},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.5821881294250488},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.5141530632972717},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.49819111824035645},{"id":"https://openalex.org/C134534832","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Predictive testing","level":3,"score":0.4449571371078491},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4248763620853424},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.36567121744155884},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.27016347646713257},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.1649438440799713},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:repository.library.georgetown.edu:10822/508735","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/10822/508735","pdf_url":null,"source":{"id":"https://openalex.org/S4306402467","display_name":"DigitalGeorgetown (Georgetown University Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210145449","host_organization_name":"Center for Security and Emerging Technology","host_organization_lineage":["https://openalex.org/I4210145449"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"215928","raw_type":null},{"id":"mag:199744283","doi":null,"is_oa":false,"landing_page_url":"https://www.questia.com/library/journal/1P3-54977545/genetic-screening-in-alzheimer-s-disease","pdf_url":null,"source":{"id":"https://openalex.org/S4306511226","display_name":"Generations","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Generations","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9763000011444092}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.6800000071525574}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2064640561","https://openalex.org/W59132852","https://openalex.org/W2325281004","https://openalex.org/W2079863304","https://openalex.org/W2065994295","https://openalex.org/W2093732841","https://openalex.org/W1858258953","https://openalex.org/W150418346","https://openalex.org/W2135441011","https://openalex.org/W1970456993"],"abstract_inverted_index":{"Current":[0],"usefulness-and":[1],"limits-as":[2],"well":[3],"as":[4,10,151,190,309,572],"future":[5,145],"prospects":[6,146],"for":[7,26,59,66,93,138,141,147,156,354,508,555,561,591],"genetic":[8,54,89,111,123,139,149,255,489],"profiling":[9,150],"a":[11,20,41,152,170,216,415,421,492,573,586],"component":[12,153],"of":[13,30,43,88,98,108,113,120,128,154,180,230,273,295,335,359,391,398,423,426,450,452,472,498,581],"prevention":[14],"and":[15,51,79,116,131,143,173,289,337,501,531,553],"treatment.":[16],"Alzheimer's":[17,114,142,167,193,242,288,312,331,418,475,478,510,556],"disease":[18,115,168,221,225,275,313,419,511,601],"is":[19,56,63,169,441,479,512,558],"progressive":[21],"neurode--":[22],"generative":[23],"disorder":[24],"responsible":[25],"the":[27,33,37,49,109,118,121,126,211,224,263,274,293,296,310,333,437,468,496,547,562,569,593,600],"vast":[28],"majority":[29],"dementia":[31],"in":[32,68,73,82,233,243,322,325,381,420,436,463,495],"elderly":[34],"population.":[35],"Over":[36],"past":[38],"two":[39,86,582],"decades":[40],"number":[42],"genes":[44,235],"have":[45,319,460,544,585],"been":[46,252,320,373,461],"associated":[47,253],"with":[48,75,218,254,281,285,386,446,483],"disease,":[50,194],"consequently,":[52],"limited":[53,99],"testing":[55,62,140],"now":[57],"marketed":[58,92],"it.":[60],"Genetic":[61,271],"potentially":[64],"useful":[65],"diagnosis":[67],"demented":[69],"patients,":[70],"early":[71,80,191,240,286,473,484],"detection":[72],"those":[74,363],"mild":[76],"cognitive":[77],"impairment,":[78],"prediction":[81],"asymptomatic":[83],"individuals.":[84],"Currently,":[85],"types":[87],"tests":[90],"are":[91,97,236],"Alzheimer's.":[94],"However,":[95],"both":[96],"value.":[100,133],"In":[101,465,564],"this":[102,157,323,370],"review,":[103],"we":[104],"present":[105],"an":[106,219,387,447],"overview":[107],"complex":[110,172],"profile":[112,471],"discuss":[117],"utility":[119],"available":[122],"tests,":[124],"including":[125],"limits":[127],"their":[129],"diagnostic":[130],"predictive":[132],"We":[134],"also":[135],"provide":[136],"recommendations":[137],"consider":[144],"performing":[148],"treatment":[155],"highly":[158],"prevalent":[159],"neurological":[160],"disorder.":[161,175],"THE":[162],"GENETICS":[163],"OP":[164],"ALZHEIMER'S":[165],"DISEASE":[166],"genetically":[171,480],"heterogeneous":[174],"The":[176,341,432,504,519],"roughly":[177,227,326],"five":[178,457],"percent":[179,229,358],"it":[181],"that":[182,201,488,546],"develops":[183],"prior":[184],"to":[185,189,209,226,238,292,356,375,393,413,443,467],"age":[186,249,366,397,449],"60,":[187,250],"referred":[188],"onset":[192,241,287,389,434,451,474],"often":[195],"displays":[196],"autosomal-dominant":[197,220],"inheritance,":[198],"which":[199],"means":[200],"only":[202,456],"one":[203],"mutant":[204],"allele":[205,549,571],"need":[206],"be":[207],"inherited":[208],"develop":[210],"trait":[212],"or":[213],"disease.":[214,563],"Thus,":[215],"parent":[217],"will":[222],"transmit":[223],"50":[228],"offspring.":[231],"Defects":[232],"three":[234,523],"known":[237],"cause":[239],"families,":[244,385],"Late-onset":[245],"Alzheimer's,":[246],"developing":[247],"beyond":[248],"has":[251,372,522],"risk":[256,552,590],"factors":[257,490],"rather":[258],"than":[259,378,383],"causative":[260],"genes,":[261],"notably":[262],"apolipoprotein":[264,513],"E":[265,514],"gene":[266,301,324,344,371,507,521],"(APOE)":[267,515],"on":[268,302,349,408,516],"chromosome":[269,303,350,409,517],"19.":[270,518],"studies":[272,486,543],"originally":[276],"used":[277],"relatively":[278,469],"rare":[279],"families":[280,328,425],"several":[282],"generations":[283],"afflicted":[284],"eventually":[290],"led":[291],"identification":[294],"amyloid":[297],"precursor":[298],"protein":[299],"(APP)":[300],"21":[304],"(Goate":[305],"et":[306,534,538,577,603],"al.,":[307,535,539,578],"1991)":[308],"first":[311],"gene.":[314],"Six":[315],"different":[316,458],"pathogenic":[317],"mutations":[318,380,459],"found":[321],"twentyfive":[327],"worldwide,":[329],"causing":[330,417],"between":[332],"ages":[334],"39":[336],"67":[338],"(Tanzi,":[339,430],"1999).":[340,431],"second":[342],"early-onset":[343,360],"identified":[345],"was":[346,404,411],"presenilin-I":[347],"(PSENI)":[348],"14.":[351],"PSENI":[352],"accounts":[353],"up":[355],"40":[357],"cases,":[361],"especially":[362],"occurring":[364],"before":[365],"So.":[367],"To":[368,454],"date,":[369,455],"reported":[374,462],"contain":[376,414],"more":[377,382],"seventy":[379],"iro":[384],"age-of":[388,433],"range":[390,435],"23":[392],"64":[394],"years":[395],"(average":[396],"onset,":[399],"45).":[400],"Shortly":[401],"after":[402],"PSEm":[403],"identified,":[405],"presenilin-a":[406],"(PSEN2)":[407],"r":[410],"discovered":[412],"mutation":[416],"series":[422],"related":[424],"Volga":[427,438],"German":[428,439],"descent":[429],"patients":[440],"44":[442],"85":[444],"years,":[445],"average":[448],"52.":[453],"PSEN2.":[464],"contrast":[466],"simple":[470],"genetics,":[476],"late-onset":[477,499,509],"very":[481],"complex,":[482],"epidemiological":[485],"showing":[487],"play":[491],"significant":[493],"role":[494],"etiology":[497],"(Blacker":[500],"Tanzi,":[502],"1998).":[503],"most":[505],"well-established":[506],"APOE":[520],"major":[524],"alleles":[525,584],"(variant":[526],"forms),":[527],"designated":[528],"epsilon-a,":[529],"3,":[530],"4":[532],"(Saunders":[533],"1993;":[536],"Strittmatter":[537],"1993).":[540],"Numerous":[541],"population-based":[542],"documented":[545],"APOE-4":[548,583],"confers":[550],"increased":[551,589],"susceptibility":[554],"but":[557],"not":[559],"determinative":[560],"contrast,":[565],"weaker":[566],"evidence":[567],"implicates":[568],"APOE-a":[570],"protective":[574],"factor":[575],"(Farrer":[576],"r997).":[579],"Carriers":[580],"five-to-eight":[587],"fold":[588],"getting":[592],"disease;":[594],"however,":[595],"many":[596],"such":[597],"people":[598],"escape":[599],"(Breitner":[602],"al.":[604],"\u2026":[605]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2016-06-24T00:00:00"}
