{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T11:10:24Z","timestamp":1787915424737,"version":"build-2784847793"},"reference-count":37,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4948,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2000,1]]},"DOI":"10.1086\/302702","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:41Z","timestamp":1027709261000},"page":"110-117","source":"Crossref","is-referenced-by-count":135,"title":["High Prevalence of Pathogenic Mutations in Patients with Early-Onset Dementia Detected by Sequence Analyses of Four Different Genes"],"prefix":"10.1016","volume":"66","author":[{"given":"Ulrich","family":"Finckh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomas","family":"M\u00fcller-Thomsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Mann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Eggers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josef","family":"Marksteiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Meins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuliano","family":"Binetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Alberici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Hock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger M.","family":"Nitsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Gal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/302702_bib1","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1002\/ana.410440624","article-title":"Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism","volume":"44","author":"Aldudo","year":"1998","journal-title":"Ann Neurol"},{"key":"10.1086\/302702_bib2","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1212\/WNL.47.3.734","article-title":"Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Str\u00e4ussler-Scheinker disease (PrP-P102L mutation)","volume":"47","author":"Barbanti","year":"1996","journal-title":"Neurology"},{"key":"10.1086\/302702_bib3","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1002\/ana.410400619","article-title":"Wide range in age of onset for chromosome 1-related familial Alzheimer's disease","volume":"40","author":"Bird","year":"1996","journal-title":"Ann Neurol"},{"key":"10.1086\/302702_bib4","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1093\/hmg\/7.1.43","article-title":"Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease","volume":"7","author":"Cruts","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302702_bib5","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1086\/302200","article-title":"The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease","volume":"64","author":"Dermaut","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302702_bib6","first-page":"223","article-title":"Mixed features of Alzheimer disease and Creutzfeldt-Jakob disease in a family with a presenilin 1 mutation in chromosome 14","volume":"3","author":"El Hachimi","year":"1996","journal-title":"Amyloid Int J Exp Clin Invest"},{"key":"10.1086\/302702_bib7","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1002\/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E","article-title":"Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1","volume":"12","author":"Finckh","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1086\/302702_bib8","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/0022-3956(75)90026-6","article-title":"\u201cMini-mental state:\u201d a practical method for grading the cognitive state of patients for the clinician","volume":"12","author":"Folstein","year":"1975","journal-title":"J Psychiatr Res"},{"key":"10.1086\/302702_bib9","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1093\/brain\/120.3.491","article-title":"Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene: pedigree but not mutation specific age at onset provides evidence for a further genetic factor","volume":"120","author":"Fox","year":"1997","journal-title":"Brain"},{"key":"10.1086\/302702_bib10","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1212\/WNL.48.5_Suppl_6.2S","article-title":"Differential diagnosis of Alzheimer's disease","volume":"48","author":"Geldmacher","year":"1997","journal-title":"Neurology"},{"key":"10.1086\/302702_bib11","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1073\/pnas.93.2.744","article-title":"Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles: the phenotype of the stop codon 145 mutation in PRNP","volume":"93","author":"Ghetti","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/302702_bib12","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/349704a0","article-title":"Segregation of a missense mutation in the amyloid protein precursor gene with familial Alzheimer's disease","volume":"349","author":"Goate","year":"1991","journal-title":"Nature"},{"key":"10.1086\/302702_bib13","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1126\/science.1439789","article-title":"Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism","volume":"258","author":"Goldfarb","year":"1992","journal-title":"Science"},{"key":"10.1086\/302702_bib14","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1111\/j.1750-3639.1995.tb00596.x","article-title":"The original Gerstmann-Straussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype","volume":"5","author":"Hainfellner","year":"1995","journal-title":"Brain Pathol"},{"key":"10.1086\/302702_bib15","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1007\/s004010050870","article-title":"Coexistence of Alzheimer-type neuropathology in Creutzfeldt-Jakob disease","volume":"96","author":"Hainfellner","year":"1998","journal-title":"Acta Neuropathol (Berl)"},{"key":"10.1086\/302702_bib16","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1002\/ana.410360307","article-title":"Chromosome 14-encoded Alzheimer's disease: genetic and clinicopathological description","volume":"36","author":"Haltia","year":"1994","journal-title":"Ann Neurol"},{"key":"10.1086\/302702_bib17","doi-asserted-by":"crossref","first-page":"1358","DOI":"10.1016\/S0140-6736(05)60749-0","article-title":"Discordant Gerstmann-Str\u00e4ussler-Scheinker disease in monozygotic twins","volume":"352","author":"Hamasaki","year":"1998","journal-title":"Lancet"},{"key":"10.1086\/302702_bib18","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1126\/science.282.5391.1075","article-title":"Genetic classification of primary neurodegenerative disease","volume":"282","author":"Hardy","year":"1998","journal-title":"Science"},{"key":"10.1086\/302702_bib19","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/338342a0","article-title":"Linkage of a prion protein missense variant to Gerstmann-Straussler syndrome","volume":"338","author":"Hsiao","year":"1989","journal-title":"Nature"},{"key":"10.1086\/302702_bib20","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s004060050028","article-title":"Early-onset Alzheimer's disease due to mutations of the presenilin-1 gene on chromosome 14: a 7-year follow-up of a patient with a mutation at codon 139","volume":"248","author":"Hull","year":"1998","journal-title":"Eur Arch Psychiatry Clin Neurosci"},{"key":"10.1086\/302702_bib21","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/S0022-510X(98)00219-6","article-title":"Familial Alzheimer's disease genes in Japanese","volume":"160","author":"Kamimura","year":"1998","journal-title":"J Neurol Sci"},{"key":"10.1086\/302702_bib22","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1006\/bbrc.1993.1447","article-title":"An amber mutation of prion protein in Gerstmann-Straussler syndrome with mutant PrP plaques","volume":"192","author":"Kitamoto","year":"1993","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/302702_bib23","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1089\/dna.1986.5.315","article-title":"Molecular cloning of a human prion protein cDNA","volume":"5","author":"Kretzschmar","year":"1986","journal-title":"DNA"},{"key":"10.1086\/302702_bib24","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1126\/science.7638622","article-title":"Candidate gene for the chromosome 1 familial Alzheimer's disease locus","volume":"269","author":"Levy-Lahad","year":"1995","journal-title":"Science"},{"key":"10.1086\/302702_bib25","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1002\/ana.410440617","article-title":"The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease","volume":"44","author":"Mattila","year":"1998","journal-title":"Ann Neurol"},{"key":"10.1086\/302702_bib26","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1212\/WNL.35.4.453","article-title":"Heterogeneity in dementia of the Alzheimer type: evidence of subgroups","volume":"35","author":"Mayeux","year":"1985","journal-title":"Neurology"},{"key":"10.1086\/302702_bib27","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1212\/WNL.34.7.939","article-title":"Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA group under the auspices of Department of HHS task force on Alzheimer's disease","volume":"34","author":"McKhann","year":"1984","journal-title":"Neurology"},{"key":"10.1086\/302702_bib28","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1212\/WNL.41.4.479","article-title":"The Consortium to Establish a Registry for Alzheimer's Disease (CERAD)","volume":"41","author":"Mirra","year":"1991","journal-title":"Neurology"},{"key":"10.1086\/302702_bib29","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1038\/5526","article-title":"Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex","volume":"5","author":"Nishimura","year":"1999","journal-title":"Nat Med"},{"key":"10.1086\/302702_bib30","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1002\/ana.410420203","article-title":"Familial spongiform encephalopathy associated with a novel prion protein gene mutation","volume":"42","author":"Nitrini","year":"1997","journal-title":"Ann Neurol"},{"key":"10.1086\/302702_bib31","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0140-6736(89)91713-3","article-title":"Insertion in prion protein gene in familial Creutzfeldt-Jakob disease","volume":"1","author":"Owen","year":"1989","journal-title":"Lancet"},{"key":"10.1086\/302702_bib32","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1093\/hmg\/2.5.541","article-title":"Deletions in the prion protein gene are not associated with CJD","volume":"2","author":"Palmer","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302702_bib33","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1002\/ajmg.1320600104","article-title":"SSCP analysis and sequencing of the human prion protein gene (PRNP) detects two different 24 bp deletions in an atypical Alzheimer's disease family","volume":"60","author":"Perry","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1086\/302702_bib34","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":"10.1086\/302702_bib35","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1093\/hmg\/5.7.985","article-title":"Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant","volume":"5","author":"Sherrington","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302702_bib36","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1038\/375754a0","article-title":"Cloning a gene bearing missense mutations in early-onset familial Alzheimer's disease","volume":"375","author":"Sherrington","year":"1995","journal-title":"Nature"},{"key":"10.1086\/302702_bib37","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/S0169-328X(96)00251-3","article-title":"Gerstmann-Straussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129","volume":"44","author":"Young","year":"1997","journal-title":"Brain Res Mol Brain Res"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970762237X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970762237X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T17:21:32Z","timestamp":1555003292000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292970762237X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,1]]},"references-count":37,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2000,1]]}},"alternative-id":["S000292970762237X"],"URL":"https:\/\/doi.org\/10.1086\/302702","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2000,1]]}}}