{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T12:48:06Z","timestamp":1778676486675,"version":"3.51.4"},"reference-count":57,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"DFG; German Research Foundation)","award":["FOR2290"],"award-info":[{"award-number":["FOR2290"]}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurobiology of Aging"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1016\/j.neurobiolaging.2019.08.034","type":"journal-article","created":{"date-parts":[[2019,9,20]],"date-time":"2019-09-20T18:38:12Z","timestamp":1569004692000},"page":"241.e5-241.e11","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"special_numbering":"C","title":["Identification of a rare presenilin 1 single amino acid deletion mutation (F175del) with unusual amyloid-\u03b2 processing effects"],"prefix":"10.1016","volume":"84","author":[{"given":"Jonathan","family":"V\u00f6glein","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Willem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Trambauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonja","family":"Sch\u00f6necker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianne","family":"Dieterich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saskia","family":"Biskup","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camilla","family":"Giudici","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathrin","family":"Utz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timo","family":"Oberstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9247-2843","authenticated-orcid":false,"given":"Matthias","family":"Brendel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Axel","family":"Rominger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8857-5383","authenticated-orcid":false,"given":"Adrian","family":"Danek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harald","family":"Steiner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Haass","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5092-4306","authenticated-orcid":false,"given":"Johannes","family":"Levin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/alzrt59","article-title":"Autosomal-dominant Alzheimer's disease: a review and proposal for the prevention of Alzheimer's disease","volume":"3","author":"Bateman","year":"2011","journal-title":"Alzheimers Res. Ther."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib2","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/j.jalz.2016.01.012","article-title":"Molecular genetics of early-onset Alzheimer's disease revisited","volume":"12","author":"Cacace","year":"2016","journal-title":"Alzheimers Dement"},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib3","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1038\/360672a0","article-title":"Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production","volume":"360","author":"Citron","year":"1992","journal-title":"Nature"},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib4","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/nm0197-67","article-title":"Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice","volume":"3","author":"Citron","year":"1997","journal-title":"Nat. Med."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib5","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1159\/000057901","article-title":"F175S change and a novel polymorphism in presenilin-1 gene in late-onset familial Alzheimer's disease","volume":"47","author":"Colacicco","year":"2002","journal-title":"Eur. Neurol."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib6","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1038\/nm0498-452","article-title":"A\u00a0variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1","volume":"4","author":"Crook","year":"1998","journal-title":"Nat. Med."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib7","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.2019.08.034_bib8","doi-asserted-by":"crossref","first-page":"a006304","DOI":"10.1101\/cshperspect.a006304","article-title":"Presenilins and \u03b3-secretase: structure, function, and role in Alzheimer disease","volume":"2","author":"De Strooper","year":"2012","journal-title":"Cold Spring Harbor Perspect. Med."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib9","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/humu.22981","article-title":"HGVS recommendations for the description of sequence variants: 2016 update","volume":"37","author":"den Dunnen","year":"2016","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib10","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1016\/S1474-4422(14)70090-0","article-title":"Advancing research diagnostic criteria for Alzheimer's disease: the IWG-2 criteria","volume":"13","author":"Dubois","year":"2014","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib11","doi-asserted-by":"crossref","first-page":"8666","DOI":"10.1073\/pnas.132277899","article-title":"Presenilin and nicastrin regulate each other and determine amyloid beta-peptide production via complex formation","volume":"99","author":"Edbauer","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U S A."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib12","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.\u00a0Psychiatr. Res."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib13","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.15252\/embj.201694151","article-title":"Substrate recruitment of gamma-secretase and mechanism of clinical presenilin mutations revealed by photoaffinity mapping","volume":"35","author":"Fukumori","year":"2016","journal-title":"EMBO J."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib14","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1080\/14737175.2017.1243469","article-title":"Treatment of epilepsy in patients with Alzheimer's disease","volume":"17","author":"Giorgi","year":"2017","journal-title":"Expert Rev. Neurotherapeutics"},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib15","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.neurobiolaging.2008.06.012","article-title":"Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP","volume":"31","author":"Guerreiro","year":"2010","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib16","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.neulet.2009.10.055","article-title":"A\u00a0novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease","volume":"468","author":"Guo","year":"2010","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib17","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0304-3940(01)02254-6","article-title":"A\u00a0novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies","volume":"313","author":"Houlden","year":"2001","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib18","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1097\/WNF.0000000000000215","article-title":"Reversible Pisa syndrome induced by rivastigmine in a patient with early-onset Alzheimer disease","volume":"40","author":"Hsu","year":"2017","journal-title":"Clin. Neuropharmacol."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib19","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.lpm.2008.08.007","article-title":"[Relation between pisa syndrome and choline esterase inhibitors in a cohort of Alzheimer's disease patients]","volume":"38","author":"Huvent-Grelle","year":"2009","journal-title":"Presse Med."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib20","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1002\/ana.20393","article-title":"A\u00a0mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease","volume":"57","author":"Ishikawa","year":"2005","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib21","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1111\/j.1468-1331.2007.01857.x","article-title":"A\u00a0novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease","volume":"14","author":"Knight","year":"2007","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib22","doi-asserted-by":"crossref","first-page":"458","DOI":"10.15252\/emmm.201505952","article-title":"Generation and deposition of Abeta43 by the virtually inactive presenilin-1 L435F mutant contradicts the presenilin loss-of-function hypothesis of Alzheimer's disease","volume":"8","author":"Kretner","year":"2016","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib23","doi-asserted-by":"crossref","first-page":"2222","DOI":"10.1016\/S0140-6736(00)02412-0","article-title":"Relation between cholinesterase inhibitor and pisa syndrome","volume":"355","author":"Kwak","year":"2000","journal-title":"Lancet (London, England)"},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib24","doi-asserted-by":"crossref","first-page":"35352","DOI":"10.1074\/jbc.M507217200","article-title":"A\u00a0nine-transmembrane domain topology for presenilin 1","volume":"280","author":"Laudon","year":"2005","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib25","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.nbd.2017.04.020","article-title":"Deletion of exons 9 and 10 of the presenilin 1 gene in a patient with early-onset Alzheimer disease generates longer amyloid seeds","volume":"104","author":"Le Guennec","year":"2017","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib26","doi-asserted-by":"crossref","first-page":"19236","DOI":"10.1074\/jbc.C200148200","article-title":"Presenilin 1 is required for maturation and cell surface accumulation of nicastrin","volume":"277","author":"Leem","year":"2002","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib27","doi-asserted-by":"crossref","first-page":"15056","DOI":"10.1038\/nrdp.2015.56","article-title":"Alzheimer's disease","volume":"1","author":"Masters","year":"2015","journal-title":"Nat. Rev. Dis. Primers"},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib28","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.jalz.2011.03.005","article-title":"The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease","volume":"7","author":"McKhann","year":"2011","journal-title":"Alzheimers Dement"},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib29","doi-asserted-by":"crossref","first-page":"8025","DOI":"10.1073\/pnas.112686799","article-title":"Presenilin-1 mutations of leucine 166 equally affect the generation of the notch and APP intracellular domains independent of their effect on A\u03b2(42) production","volume":"99","author":"Moehlmann","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib30","doi-asserted-by":"crossref","first-page":"463","DOI":"10.3389\/fphys.2014.00463","article-title":"Molecular mechanism of the intramembrane cleavage of the \u03b2-carboxyl terminal fragment of amyloid precursor protein by \u03b3-secretase","volume":"5","author":"Morishima-Kawashima","year":"2014","journal-title":"Front. Physiol."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib31","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/S1474-4422(12)70307-1","article-title":"A\u00a0presenilin 1 mutation in the first case of Alzheimer's disease","volume":"12","author":"Muller","year":"2013","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib32","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.celrep.2012.11.028","article-title":"Gamma-secretase modulators and presenilin 1 mutants act differently on presenilin\/gamma-secretase function to cleave Abeta42 and Abeta43","volume":"3","author":"Okochi","year":"2013","journal-title":"Cell Rep."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib33","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1074\/jbc.M708754200","article-title":"Generation of Abeta38 and Abeta42 is independently and differentially affected by familial Alzheimer disease-associated presenilin mutations and gamma-secretase modulation","volume":"283","author":"Page","year":"2008","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib34","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1136\/jmg.2005.033456","article-title":"Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update","volume":"42","author":"Raux","year":"2005","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib35","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/s40478-016-0294-7","article-title":"Deposition of C-terminally truncated A\u03b2 species A\u03b237 and A\u03b239 in Alzheimer\u2019s disease and transgenic mouse models","volume":"4","author":"Reinert","year":"2016","journal-title":"Acta Neuropathol. Commun."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib36","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1006\/geno.1996.4523","article-title":"Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease","volume":"40","author":"Rogaev","year":"1997","journal-title":"Genomics"},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib37","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1016\/j.jalz.2014.06.005","article-title":"A\u00a0presenilin 1 mutation in the first case of Alzheimer's disease: revisited","volume":"10","author":"Rupp","year":"2014","journal-title":"Alzheimers Dement"},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib38","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1136\/jnnp.55.10.967","article-title":"Atrophy of medial temporal lobes on MRI in \u201cprobable\u201d Alzheimer's disease and normal ageing: diagnostic value and neuropsychological correlates","volume":"55","author":"Scheltens","year":"1992","journal-title":"J.\u00a0Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib39","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1038\/nm0896-864","article-title":"Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in\u00a0vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease","volume":"2","author":"Scheuner","year":"1996","journal-title":"Nat. Med."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib40","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1159\/000357774","article-title":"The extension of the German CERAD neuropsychological assessment battery with tests assessing subcortical, executive and frontal functions improves accuracy in dementia diagnosis","volume":"4","author":"Schmid","year":"2014","journal-title":"Dement Geriatr. Cogn. Dis. Extra"},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib41","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.2019.08.034_bib42","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1002\/1531-8249(200101)49:1<125::AID-ANA21>3.0.CO;2-1","article-title":"Variable phenotype of Alzheimer's disease with spastic paraparesis","volume":"49","author":"Smith","year":"2001","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib43","doi-asserted-by":"crossref","first-page":"7233","DOI":"10.1074\/jbc.M007183200","article-title":"A\u00a0pathogenic presenilin-1 deletion causes aberrant Abeta 42 production in the absence of congophilic amyloid plaques","volume":"276","author":"Steiner","year":"2001","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib44","doi-asserted-by":"crossref","first-page":"29627","DOI":"10.1074\/jbc.R800010200","article-title":"Intramembrane proteolysis by gamma-secretase","volume":"283","author":"Steiner","year":"2008","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib45","doi-asserted-by":"crossref","first-page":"292","DOI":"10.15698\/cst2018.11.162","article-title":"Making the final cut: pathogenic amyloid-\u03b2 peptide generation by \u03b3-secretase","volume":"2","author":"Steiner","year":"2018","journal-title":"Cell Stress."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib46","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1126\/science.8191290","article-title":"An increased percentage of long amyloid beta protein secreted by familial amyloid beta protein precursor (beta APP717) mutants","volume":"264","author":"Suzuki","year":"1994","journal-title":"Science (New York, NY)"},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib47","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/j.cell.2017.07.004","article-title":"Alzheimer's-causing mutations shift Abeta length by destabilizing gamma-secretase-Abetan interactions","volume":"170","author":"Szaruga","year":"2017","journal-title":"Cell"},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib48","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1016\/S1474-4422(16)30229-0","article-title":"Neurological manifestations of autosomal dominant familial Alzheimer's disease: a comparison of the published literature with the dominantly inherited Alzheimer Network observational study (DIAN-OBS)","volume":"15","author":"Tang","year":"2016","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib49","doi-asserted-by":"crossref","first-page":"28415","DOI":"10.1074\/jbc.272.45.28415","article-title":"Evidence that levels of presenilins (PS1 and PS2) are coordinately regulated by competition for limiting cellular factors","volume":"272","author":"Thinakaran","year":"1997","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib50","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.neulet.2013.03.056","article-title":"Previously not recognized deletion in presenilin-1 (p.Leu174del.) in a patient with early-onset familial Alzheimer's disease","volume":"544","author":"Tiedt","year":"2013","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib51","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/bs.mie.2016.10.013","article-title":"Analyzing amyloid-beta peptide modulation profiles and binding sites of gamma-secretase modulators","volume":"584","author":"Trambauer","year":"2017","journal-title":"Methods Enzymol."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib52","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1111\/j.1600-0404.2005.00388.x","article-title":"Pisa syndrome in a cohort of Alzheimer's disease patients","volume":"111","author":"Vanacore","year":"2005","journal-title":"Acta Neurol. Scand."},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib53","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1212\/WNL.54.5.1103","article-title":"Variant Alzheimer's disease with spastic paraparesis: clinical characterization","volume":"54","author":"Verkkoniemi","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib54","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.neurobiolaging.2018.11.022","article-title":"Seizures as an early symptom of autosomal dominant Alzheimer's disease","volume":"76","author":"V\u00f6glein","year":"2019","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib55","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1093\/brain\/awz050","article-title":"Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer\u2019s disease","volume":"142","author":"V\u00f6glein","year":"2019","journal-title":"Brain"},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib56","series-title":"Manual for the Wechsler Memory Scale\u2014Revised","author":"Wechsler","year":"1981"},{"key":"10.1016\/j.neurobiolaging.2019.08.034_bib57","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1002\/elps.1150180332","article-title":"Improved electrophoretic separation and immunoblotting of beta-amyloid (A beta) peptides 1-40, 1-42, and 1-43","volume":"18","author":"Wiltfang","year":"1997","journal-title":"Electrophoresis"}],"container-title":["Neurobiology of Aging"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0197458019303203?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0197458019303203?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T11:33:50Z","timestamp":1759318430000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0197458019303203"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12]]},"references-count":57,"alternative-id":["S0197458019303203"],"URL":"https:\/\/doi.org\/10.1016\/j.neurobiolaging.2019.08.034","relation":{},"ISSN":["0197-4580"],"issn-type":[{"value":"0197-4580","type":"print"}],"subject":[],"published":{"date-parts":[[2019,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of a rare presenilin 1 single amino acid deletion mutation (F175del) with unusual amyloid-\u03b2 processing effects","name":"articletitle","label":"Article Title"},{"value":"Neurobiology of Aging","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neurobiolaging.2019.08.034","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}