{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"medRxiv"}],"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T12:07:19Z","timestamp":1768565239337,"version":"3.49.0"},"posted":{"date-parts":[[2023,4,24]]},"group-title":"Neurology","reference-count":31,"publisher":"openRxiv","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2023,4,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>\n                    Pick\u2019s disease (PiD) is a rare and predominantly sporadic form of frontotemporal dementia that is classified as a primary tauopathy. PiD is pathologically defined by argyrophilic inclusion Pick bodies and ballooned neurons in the frontal and temporal brain lobes. PiD is characterised by the presence of Pick bodies which are formed from aggregated, hyperphosphorylated, 3-repeat tau proteins, encoded by the\n                    <jats:italic>MAPT<\/jats:italic>\n                    gene. The\n                    <jats:italic>MAPT<\/jats:italic>\n                    H2 haplotype has consistently been associated with a decreased disease risk of the 4-repeat tauopathies of progressive supranuclear palsy and corticobasal degeneration, however its role in susceptibility to PiD is unclear. The primary aim of this study was to evaluate the association between\n                    <jats:italic>MAPT<\/jats:italic>\n                    H2 and risk of PiD.\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>\n                    We established the Pick\u2019s disease International Consortium (PIC) and collected 338 (60.7% male) pathologically confirmed PiD brains from 39 sites worldwide. 1,312 neurologically healthy clinical controls were recruited from Mayo Clinic Jacksonville, FL (N=881) or Rochester, MN (N=431). For the primary analysis, subjects were directly genotyped for\n                    <jats:italic>MAPT<\/jats:italic>\n                    H1-H2 haplotype-defining variant rs8070723. In secondary analysis, we genotyped and constructed the six-variant\n                    <jats:italic>MAPT<\/jats:italic>\n                    H1 subhaplotypes (rs1467967, rs242557, rs3785883, rs2471738, rs8070723, and rs7521).\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Findings<\/jats:title>\n                  <jats:p>\n                    Our primary analysis found that the\n                    <jats:italic>MAPT<\/jats:italic>\n                    H2 haplotype was associated with increased risk of PiD (OR: 1.35, 95% CI: 1.12-1.64 P=0.002). In secondary analysis involving H1 subhaplotypes, a protective association with PiD was observed for the H1f haplotype (0.0% vs. 1.2%, P=0.049), with a similar trend noted for H1b (OR: 0.76, 95% CI: 0.58-1.00, P=0.051). The 4-repeat tauopathy risk haplotype\n                    <jats:italic>MAPT<\/jats:italic>\n                    H1c was not associated with PiD susceptibility (OR: 0.93, 95% CI: 0.70-1.25, P=0.65).\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Interpretation<\/jats:title>\n                  <jats:p>\n                    The PIC represents the first opportunity to perform relatively large-scale studies to enhance our understanding of the pathobiology of PiD. This study demonstrates that in contrast to its protective role in 4R tauopathies, the\n                    <jats:italic>MAPT<\/jats:italic>\n                    H2 haplotype is associated with an increased risk of PiD. This finding is critical in directing isoform-related therapeutics for tauopathies.\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Funding<\/jats:title>\n                  <jats:p>See funding section<\/jats:p>\n                <\/jats:sec>","DOI":"10.1101\/2023.04.17.23288471","type":"posted-content","created":{"date-parts":[[2023,4,24]],"date-time":"2023-04-24T18:25:13Z","timestamp":1682360713000},"source":"Crossref","is-referenced-by-count":2,"title":["Creating the Pick\u2019s disease International Consortium: Association study of\n                  <i>MAPT<\/i>\n                  H2 haplotype with risk of Pick\u2019s disease"],"prefix":"10.64898","author":[{"given":"Rebecca R","family":"Valentino","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William J","family":"Scotton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanu F","family":"Roemer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tammaryn","family":"Lashley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael G","family":"Heckman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Shoai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandro","family":"Martinez-Carrasco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Tamvaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald L","family":"Walton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew C","family":"Baker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannah L","family":"Macpherson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8117-742X","authenticated-orcid":false,"given":"Raquel","family":"Real","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra I","family":"Soto-Beasley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kin","family":"Mok","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamas","family":"Revesz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6195-6995","authenticated-orcid":false,"given":"Thomas T","family":"Warner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zane","family":"Jaunmuktane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4153-8187","authenticated-orcid":false,"given":"Bradley F","family":"Boeve","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth A","family":"Christopher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"DeTure","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8060-6309","authenticated-orcid":false,"given":"Ranjan","family":"Duara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neill R","family":"Graff-Radford","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keith A","family":"Josephs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David S","family":"Knopman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8868-9700","authenticated-orcid":false,"given":"Shunsuke","family":"Koga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7379-2545","authenticated-orcid":false,"given":"Melissa E","family":"Murray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly E","family":"Lyons","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajesh","family":"Pahwa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph E","family":"Parisi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald C","family":"Petersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Whitwell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lea T","family":"Grinberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce","family":"Miller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Athena","family":"Schlereth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William W","family":"Seeley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"Spina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murray","family":"Grossman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J","family":"Irwin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4589-1180","authenticated-orcid":false,"given":"Edward B","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"EunRan","family":"Suh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John Q","family":"Trojanowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivianna M","family":"Van Deerlin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David A","family":"Wolk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theresa R","family":"Connors","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick M","family":"Dooley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew P","family":"Frosch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6998-9510","authenticated-orcid":false,"given":"Derek H","family":"Oakley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iban","family":"Aldecoa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mircea","family":"Balasa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen","family":"Gelpi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergi","family":"Borrego-\u00c9cija","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa Maria","family":"de Eugenio Hu\u00e9lamo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jordi","family":"Gascon-Bayarri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raquel","family":"S\u00e1nchez-Valle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pilar","family":"Sanz-Cartagena","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerard","family":"Pi\u00f1ol-Ripoll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Molina-Porcel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eileen H","family":"Bigio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret E","family":"Flanagan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamar","family":"Gefen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6472-1363","authenticated-orcid":false,"given":"Emily J","family":"Rogalski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Weintraub","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javier","family":"Redding-Ochoa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koping","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan C","family":"Troncoso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"Prokop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathy L","family":"Newell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernardino","family":"Ghetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew","family":"Jones","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Richardson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2208-7728","authenticated-orcid":false,"given":"Andrew C","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federico","family":"Roncaroli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Snowden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kieren","family":"Allinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Green","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7216-8679","authenticated-orcid":false,"given":"James B","family":"Rowe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Poonam","family":"Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas G","family":"Beach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geidy E","family":"Serrano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xena E","family":"Flowers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James E","family":"Goldman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allison C","family":"Heaps","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra P","family":"Leskinen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1916-8490","authenticated-orcid":false,"given":"Andrew F","family":"Teich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra E","family":"Black","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia L","family":"Keith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Masellis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Istvan","family":"Bodi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"King","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Safa-Al","family":"Sarraj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Troakes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0422-8398","authenticated-orcid":false,"given":"Glenda M","family":"Halliday","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John R","family":"Hodges","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jillian J","family":"Kril","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John B","family":"Kwok","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6696-1440","authenticated-orcid":false,"given":"Olivier","family":"Piguet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marla","family":"Gearing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Arzberger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sigrun","family":"Roeber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Attems","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3749-0993","authenticated-orcid":false,"given":"Christopher M","family":"Morris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6667-9533","authenticated-orcid":false,"given":"Alan J","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bret M.","family":"Evers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3870-2804","authenticated-orcid":false,"given":"Charles L","family":"White","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naguib","family":"Mechawar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne A","family":"Sieben","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick P","family":"Cras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bart B","family":"De Vil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter Paul P.P.","family":"De Deyn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles","family":"Duyckaerts","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle Le","family":"Ber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danielle","family":"Seihean","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabrina","family":"Turbant-Leclere","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian R","family":"MacKenzie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catriona","family":"McLean","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew D","family":"Cykowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John F","family":"Ervin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shih-Hsiu J","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9949-2951","authenticated-orcid":false,"given":"Caroline","family":"Graff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inger","family":"Nennesmo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rashed M","family":"Nagra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Riehl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabor G","family":"Kovacs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgio","family":"Giaccone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benedetta","family":"Nacmias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Neumann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lee-Cyn","family":"Ang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth C","family":"Finger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelis","family":"Blauwendraat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mike A","family":"Nalls","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew B","family":"Singleton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Vitale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Cunha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agostinho","family":"Carvalho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zbigniew K","family":"Wszolek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5473-3774","authenticated-orcid":false,"given":"Huw R","family":"Morris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4049-0863","authenticated-orcid":false,"given":"Rosa","family":"Rademakers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John A","family":"Hardy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7189-7917","authenticated-orcid":false,"given":"Dennis W","family":"Dickson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan D","family":"Rohrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Owen A","family":"Ross","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"54368","reference":[{"issue":"9","key":"2023042614102114000_2023.04.17.23288471v1.1","doi-asserted-by":"crossref","first-page":"2697","DOI":"10.1007\/s00415-020-09927-9","article-title":"Pick\u2019s disease: clinicopathologic characterization of 21 cases","volume":"267","year":"2020","journal-title":"Journal of neurology"},{"key":"2023042614102114000_2023.04.17.23288471v1.2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24559"},{"key":"2023042614102114000_2023.04.17.23288471v1.3","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318207b1ce"},{"key":"2023042614102114000_2023.04.17.23288471v1.4","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr198"},{"issue":"24","key":"2023042614102114000_2023.04.17.23288471v1.5","doi-asserted-by":"crossref","first-page":"e3190","DOI":"10.1212\/WNL.0000000000010948","article-title":"Longitudinal anatomic, functional, and molecular characterization of Pick disease phenotypes","volume":"95","year":"2020","journal-title":"Neurology"},{"key":"2023042614102114000_2023.04.17.23288471v1.6","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-009-0493-4"},{"key":"2023042614102114000_2023.04.17.23288471v1.7","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.11.1803"},{"key":"2023042614102114000_2023.04.17.23288471v1.8","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-011-9589-0"},{"key":"2023042614102114000_2023.04.17.23288471v1.9","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(89)90210-9"},{"key":"2023042614102114000_2023.04.17.23288471v1.10","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.11.4051"},{"issue":"11","key":"2023042614102114000_2023.04.17.23288471v1.11","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1097\/NEN.0000000000000248","article-title":"A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease","volume":"74","year":"2015","journal-title":"J Neuropathol Exp Neurol"},{"key":"2023042614102114000_2023.04.17.23288471v1.12","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh591"},{"key":"2023042614102114000_2023.04.17.23288471v1.13","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1223"},{"key":"2023042614102114000_2023.04.17.23288471v1.14","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh147"},{"issue":"13","key":"2023042614102114000_2023.04.17.23288471v1.15","doi-asserted-by":"crossref","first-page":"e1755","DOI":"10.1212\/WNL.0000000000011649","article-title":"Association of Mitochondrial DNA Genomic Variation With Risk of Pick Disease","volume":"96","year":"2021","journal-title":"Neurology"},{"key":"2023042614102114000_2023.04.17.23288471v1.16","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.4.711"},{"key":"2023042614102114000_2023.04.17.23288471v1.17","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.12.1702"},{"key":"2023042614102114000_2023.04.17.23288471v1.18","doi-asserted-by":"crossref","first-page":"7247","DOI":"10.1038\/ncomms8247","article-title":"Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy","volume":"6","year":"2015","journal-title":"Nature Communications"},{"key":"2023042614102114000_2023.04.17.23288471v1.19","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.3.443"},{"key":"2023042614102114000_2023.04.17.23288471v1.20","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(00)01785-7"},{"issue":"1","key":"2023042614102114000_2023.04.17.23288471v1.21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/alzrt231","article-title":"Clinicopathologic assessment and imaging of tauopathies in neurodegenerative dementias","volume":"6","year":"2014","journal-title":"Alzheimer\u2019s research & therapy"},{"key":"2023042614102114000_2023.04.17.23288471v1.22","doi-asserted-by":"publisher","DOI":"10.1111\/BPA.12842"},{"key":"2023042614102114000_2023.04.17.23288471v1.23","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.031377"},{"issue":"4","key":"2023042614102114000_2023.04.17.23288471v1.24","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/alzrt268","article-title":"Association of MAPT haplotypes with Alzheimer\u2019s disease risk and MAPT brain gene expression levels","volume":"6","year":"2014","journal-title":"Alzheimer\u2019s research & therapy"},{"key":"2023042614102114000_2023.04.17.23288471v1.25","doi-asserted-by":"crossref","unstructured":"Heckman MG , Brennan RR , Labb\u00e9 C , Soto AI , Koga S , DeTure MA , et al. Association of MAPT Subhaplotypes With Risk of Progressive Supranuclear Palsy and Severity of Tau Pathology. JAMA Neurology. 2019.","DOI":"10.1001\/jamaneurol.2019.0250"},{"key":"2023042614102114000_2023.04.17.23288471v1.26","doi-asserted-by":"publisher","DOI":"10.1086\/338688"},{"key":"2023042614102114000_2023.04.17.23288471v1.27","doi-asserted-by":"publisher","DOI":"10.1038\/31508"},{"key":"2023042614102114000_2023.04.17.23288471v1.28","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-13-458"},{"key":"2023042614102114000_2023.04.17.23288471v1.29","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2006.10.018"},{"issue":"7","key":"2023042614102114000_2023.04.17.23288471v1.30","doi-asserted-by":"crossref","first-page":"e0157452","DOI":"10.1371\/journal.pone.0157452","article-title":"The Role of MAPT Haplotype H2 and Isoform 1N\/4R in Parkinsonism of Older Adults","volume":"11","year":"2016","journal-title":"PLoS One"},{"key":"2023042614102114000_2023.04.17.23288471v1.31","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(19)30320-5"}],"container-title":[],"original-title":[],"link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/2023.04.17.23288471","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T19:31:53Z","timestamp":1768505513000},"score":1,"resource":{"primary":{"URL":"http:\/\/medrxiv.org\/lookup\/doi\/10.1101\/2023.04.17.23288471"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,24]]},"references-count":31,"URL":"https:\/\/doi.org\/10.1101\/2023.04.17.23288471","relation":{},"subject":[],"published":{"date-parts":[[2023,4,24]]},"subtype":"preprint"}}