{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Valentino RR"],"funding":["Brain Research UK","NIA NIH HHS","Medical Research Council","NIDCD NIH HHS","NINDS NIH HHS","Wellcome Trust"],"pubmed_abstract":["<h4>Background</h4>Pick's 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 <i>MAPT</i> gene. The <i>MAPT</i> 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 <i>MAPT</i> H2 and risk of PiD.<h4>Methods</h"],"journal":["medRxiv : the preprint server for health sciences"],"pagination":["2023.04.17.23288471"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10168402"],"repository":["biostudies-literature"],"pubmed_title":["Creating the Pick's disease International Consortium: Association study of &lt;i&gt;MAPT&lt;/i&gt; H2 haplotype with risk of Pick's disease."],"pmcid":["PMC10168402"],"funding_grant_id":["R01 NS078086","K24 AG053435","R01 AG077444","U54 NS110435","U01 AG057195","P30 AG062677","RF1 NS120992","P30 AG019610","RF1 NS118584","R01 DC014942","K08 AG052648","P30 AG072958","U19 AG063911","U01 NS100620","P30 AG010124","P30 AG062421","P30 AG066546","P01 AG003949","UG3 NS104095","RF1 NS112153","P30 AG066511","220582/Z/20/Z","R01 AG037491","K08 AG065463","P01 AG066597","220258/Z/20/Z","U19 AG071754","R01 NS089757","MR/J009482/1","P30 AG010133","P01 AG019724","U01 AG006786","P30 AG072980","220258","P01 AG017586","U24 NS072026","P30 AG066462","P30 AG072977","MR/T046015/1","P50 AG023501","U54 NS100693","R01 DC008552","R01 NS075075","P30 AG072979","P30 AG013854","R01 NS112153","MR/M023664/1","R01 NS109260","P50 NS072187","MR/M008525/1","R01 AG062566","202021-32"],"pubmed_authors":["DeTure M","Suh E","Roncaroli F","Hodges JR","Revesz T","Neumann M","Spina S","Wolk DA","Newell KL","Finger EC","Pinol-Ripoll G","Keith JL","Irwin DJ","Whitwell J","Sieben AA","Pahwa R","Hardy JA","Tamvaka N","Kwok JB","Giaccone G","Heckman MG","Roemer SF","Scotton WJ","Ghetti B","Cras PP","Duara R","Lyons KE","MacKenzie IR","Redding-Ochoa J","White CL","Seihean D","Balasa M","Sarraj SA","Grossman M","Prokop S","Lee EB","Seeley WW","Kovacs GG","Morris HR","Nalls MA","Christopher EA","Lashley T","Van Deerlin VM","Mechawar N","Piguet O","Nacmias B","Teich AF","Richardson A","Vitale D","Koga S","Gelpi E","Nagra RM","Boeve BF","Robinson AC","Miller B","Weintraub S","Nennesmo I","Chang K","Murray ME","de Eugenio Huelamo RM","Grinberg LT","Borrego-Ecija S","Attems J","Knopman DS","Rowe JB","Black SE","Troakes C","Arzberger T","McLean C","Graff C","Green O","Duyckaerts C","Soto-Beasley AI","Wang SJ","Jaunmuktane Z","Turbant-Leclere S","Beach TG","Warner TT","Dickson DW","Connors TR","Schlereth A","Rademakers R","Shoai M","Trojanowski JQ","Le Ber I","Graff-Radford NR","Wszolek ZK","Dooley PM","Sanz-Cartagena P","Molina-Porcel L","Singh P","Walton RL","Aldecoa I","Morris CM","Josephs KA","De Vil BB","Rohrer JD","Mok K","Cykowski MD","Macpherson HL","De Deyn PPPP","Masellis M","Petersen RC","Flanagan ME","Jones M","Bodi I","Snowden J","Ang LC","Riehl J","Allinson K","Roeber S","Halliday GM","Oakley DH","Leskinen SP","Martinez-Carrasco A","Goldman JE","Kril JJ","Bigio EH","Gefen T","Flowers XE","Gascon-Bayarri J","Blauwendraat C","Rogalski EJ","Parisi JE","Gearing M","Valentino RR","Troncoso JC","Baker MC","Real R","Frosch MP","Cunha C","Carvalho A","Ervin JF","Singleton AB","Ross OA","Thomas AJ","Serrano GE","King A","Evers BM","Heaps AC","Sanchez-Valle R"],"additional_accession":[]},"is_claimable":false,"name":"Creating the Pick's disease International Consortium: Association study of &lt;i&gt;MAPT&lt;/i&gt; H2 haplotype with risk of Pick's disease.","description":"<h4>Background</h4>Pick's 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 <i>MAPT</i> gene. The <i>MAPT</i> 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 <i>MAPT</i> H2 and risk of PiD.<h4>Methods</h","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Apr","modification":"2026-04-08T15:57:31.613Z","creation":"2025-04-06T00:49:08.784Z"},"accession":"S-EPMC10168402","cross_references":{"pubmed":["37163045"],"doi":["10.1101/2023.04.17.23288471"]}}