{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T13:35:59Z","timestamp":1790429759286,"version":"4.1.0"},"reference-count":38,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"crossref","award":["R01 AG032990"],"award-info":[{"award-number":["R01 AG032990"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"crossref","award":["U01 AG046139"],"award-info":[{"award-number":["U01 AG046139"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"crossref","award":["R01 AG018023"],"award-info":[{"award-number":["R01 AG018023"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"crossref","award":["AG025711"],"award-info":[{"award-number":["AG025711"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"crossref","award":["AG017216"],"award-info":[{"award-number":["AG017216"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"crossref","award":["AG003949"],"award-info":[{"award-number":["AG003949"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000957","name":"Alzheimer's Association","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000957","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Alzheimer's Research UK"},{"DOI":"10.13039\/501100000319","name":"ARUK","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000319","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","neurobiologyofaging.org","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurobiology of Aging"],"published-print":{"date-parts":[[2016,1]]},"DOI":"10.1016\/j.neurobiolaging.2015.09.023","type":"journal-article","created":{"date-parts":[[2015,10,16]],"date-time":"2015-10-16T05:10:47Z","timestamp":1444972247000},"page":"38-44","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"special_numbering":"C","title":["Evaluating pathogenic dementia variants in posterior cortical atrophy"],"prefix":"10.1016","volume":"37","author":[{"given":"Minerva M.","family":"Carrasquillo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imelda","family":"Barber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah J.","family":"Lincoln","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa E.","family":"Murray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gamze Balci","family":"Camsari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qurat ul Ain.","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thuy","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gina D.","family":"Bisceglio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia E.","family":"Crook","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven G.","family":"Younkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis W.","family":"Dickson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bradley F.","family":"Boeve","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neill R.","family":"Graff-Radford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nil\u00fcfer","family":"Ertekin-Taner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib1","doi-asserted-by":"crossref","DOI":"10.1002\/0471142905.hg0720s76","article-title":"Predicting functional effect of human missense mutations using PolyPhen-2","author":"Adzhubei","year":"2013","journal-title":"Curr. Protoc. Hum. Genet"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib2","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1001\/archneur.1996.00550100020006","article-title":"Posterior cortical atrophy: neuropathological correlations","volume":"53","author":"Ala","year":"1996","journal-title":"Arch. Neurol."},{"issue":"Pt 10","key":"10.1016\/j.neurobiolaging.2015.09.023_bib3","doi-asserted-by":"crossref","first-page":"2636","DOI":"10.1093\/brain\/awm213","article-title":"Focal cortical presentations of Alzheimer's disease","volume":"130","author":"Alladi","year":"2007","journal-title":"Brain"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib4","doi-asserted-by":"crossref","first-page":"pdb ip71","DOI":"10.1101\/pdb.ip71","article-title":"Haploview: visualization and analysis of SNP genotype data","volume":"2009","author":"Barrett","year":"2009","journal-title":"Cold Spring Harb. Protoc."},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib5","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1001\/archneur.1988.00520310107024","article-title":"Posterior cortical atrophy","volume":"45","author":"Benson","year":"1988","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib6","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/j.jalz.2013.02.011","article-title":"Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation","volume":"10","author":"Carney","year":"2014","journal-title":"Alzheimers Dement."},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib7","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1001\/jamaneurol.2014.3308","article-title":"Posterior cortical atrophy as an extreme phenotype of GRN mutations","volume":"72","author":"Caroppo","year":"2015","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib8","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1212\/WNL.0000000000000335","article-title":"Late-onset Alzheimer disease genetic variants in posterior cortical atrophy and posterior AD","volume":"82","author":"Carrasquillo","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib9","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/S1474-4422(11)70289-7","article-title":"Posterior cortical atrophy","volume":"11","author":"Crutch","year":"2012","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib10","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1002\/humu.22117","article-title":"Locus-specific mutation databases for neurodegenerative brain diseases","volume":"33","author":"Cruts","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib11","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1097\/WAD.0b013e318231e449","article-title":"Long-standing prion dementia manifesting as posterior cortical atrophy","volume":"26","author":"Depaz","year":"2012","journal-title":"Alzheimer Dis. Assoc. Disord."},{"issue":"Pt 7","key":"10.1016\/j.neurobiolaging.2015.09.023_bib12","doi-asserted-by":"crossref","first-page":"2036","DOI":"10.1093\/brain\/awr130","article-title":"Similar amyloid-beta burden in posterior cortical atrophy and Alzheimer's disease","volume":"134","author":"de Souza","year":"2011","journal-title":"Brain"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib13","doi-asserted-by":"crossref","first-page":"545.e9","DOI":"10.1016\/j.neurobiolaging.2014.07.038","article-title":"Mutation analysis of patients with neurodegenerative disorders using NeuroX array","volume":"36","author":"Ghani","year":"2015","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib14","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/349704a0","article-title":"Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease","volume":"349","author":"Goate","year":"1991","journal-title":"Nature"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib15","doi-asserted-by":"crossref","first-page":"e68095","DOI":"10.1371\/journal.pone.0068095","article-title":"Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium","volume":"8","author":"Grove","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib16","doi-asserted-by":"crossref","first-page":"2656.e13","DOI":"10.1016\/j.neurobiolaging.2014.05.013","article-title":"A\u00a0nonsense mutation in PRNP associated with clinical Alzheimer's disease","volume":"35","author":"Guerreiro","year":"2014","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib17","first-page":"1569","article-title":"TREM2 and neurodegenerative disease","volume":"369","author":"Guerreiro","year":"2013","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib18","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1056\/NEJMoa1211103","article-title":"Variant of TREM2 associated with the risk of Alzheimer's disease","volume":"368","author":"Jonsson","year":"2013","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib19","doi-asserted-by":"crossref","first-page":"243ra86","DOI":"10.1126\/scitranslmed.3009093","article-title":"TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis","volume":"6","author":"Kleinberger","year":"2014","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib20","doi-asserted-by":"crossref","first-page":"1452","DOI":"10.1038\/ng.2802","article-title":"Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease","volume":"45","author":"Lambert","year":"2013","journal-title":"Nat. Genet."},{"issue":"Pt 3","key":"10.1016\/j.neurobiolaging.2015.09.023_bib21","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1093\/brain\/aws327","article-title":"Diverging patterns of amyloid deposition and hypometabolism in clinical variants of probable Alzheimer's disease","volume":"136","author":"Lehmann","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib22","doi-asserted-by":"crossref","first-page":"1605.e7","DOI":"10.1016\/j.neurobiolaging.2014.07.028","article-title":"NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases","volume":"36","author":"Nalls","year":"2015","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib23","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1001\/2013.jamaneurol.393","article-title":"Progranulin mutations as risk factors for Alzheimer disease","volume":"70","author":"Perry","year":"2013","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib24","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a tool set for whole-genome association and population-based linkage analyses","volume":"81","author":"Purcell","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib25","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1212\/01.WNL.0000140290.80962.BF","article-title":"Progressive posterior cortical dysfunction: a clinicopathologic series","volume":"63","author":"Renner","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib26","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1038\/376775a0","article-title":"Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene","volume":"376","author":"Rogaev","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib27","doi-asserted-by":"crossref","first-page":"1789","DOI":"10.1212\/WNL.0b013e31821cccad","article-title":"Distinct clinical and metabolic deficits in PCA and AD are not related to amyloid distribution","volume":"76","author":"Rosenbloom","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib28","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1016\/j.neurobiolaging.2013.08.004","article-title":"Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features","volume":"35","author":"Rossi","year":"2014","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib29","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1097\/WAD.0b013e318251d87c","article-title":"MR, (18)F-FDG, and (18)F-AV45 PET correlate with AD PSEN1 original phenotype","volume":"27","author":"Saint-Aubert","year":"2013","journal-title":"Alzheimer Dis. Assoc. Disord."},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib30","doi-asserted-by":"crossref","first-page":"2881.e1","DOI":"10.1016\/j.neurobiolaging.2014.06.002","article-title":"Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease","volume":"35","author":"Sassi","year":"2014","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib31","doi-asserted-by":"crossref","first-page":"1782","DOI":"10.1212\/WNL.0b013e31821ccc98","article-title":"CSF biomarkers in posterior cortical atrophy","volume":"76","author":"Seguin","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib32","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1038\/375754a0","article-title":"Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease","volume":"375","author":"Sherrington","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib33","doi-asserted-by":"crossref","first-page":"e61074","DOI":"10.1371\/journal.pone.0061074","article-title":"A\u00a0patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene","volume":"8","author":"Sitek","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib34","doi-asserted-by":"crossref","first-page":"1168","DOI":"10.1212\/01.WNL.0000140289.18472.15","article-title":"Clinical, genetic, and neuropathologic characteristics of posterior cortical atrophy","volume":"63","author":"Tang-Wai","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib35","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1097\/WAD.0000000000000052","article-title":"First report of PSEN2 mutation presenting as posterior cortical atrophy","volume":"9","author":"Tremolizzo","year":"2015","journal-title":"Alzheimer Dis. Assoc. Disord."},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib36","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1001\/archneur.1994.00540150063018","article-title":"Posterior cortical atrophy. Neuropathologic correlations","volume":"51","author":"Victoroff","year":"1994","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib37","first-page":"107","article-title":"C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic","volume":"1","author":"Wojtas","year":"2012","journal-title":"Am. J. Neurodegener. Dis."},{"key":"10.1016\/j.neurobiolaging.2015.09.023_bib38","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1146\/annurev-neuro-071013-014300","article-title":"Apolipoprotein E in Alzheimer's disease: an update","volume":"37","author":"Yu","year":"2014","journal-title":"Annu. Rev. Neurosci."}],"container-title":["Neurobiology of Aging"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0197458015004807?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0197458015004807?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,18]],"date-time":"2018-09-18T19:27:50Z","timestamp":1537298870000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0197458015004807"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1]]},"references-count":38,"alternative-id":["S0197458015004807"],"URL":"https:\/\/doi.org\/10.1016\/j.neurobiolaging.2015.09.023","relation":{},"ISSN":["0197-4580"],"issn-type":[{"value":"0197-4580","type":"print"}],"subject":[],"published":{"date-parts":[[2016,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Evaluating pathogenic dementia variants in posterior cortical atrophy","name":"articletitle","label":"Article Title"},{"value":"Neurobiology of Aging","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neurobiolaging.2015.09.023","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}