Atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions (aFTLD-U) is neuropathologically characterized by aggregation of the FET family of proteins and clinically manifests as sporadic young-onset frontotemporal dementia. Here we describe a major risk locus on chr15q14 identified through a genome-wide association study in 59 pathologically confirmed aFTLD-U cases and 3,153 controls (lead single nucleotide polymorphism rs549846383, P = 5.85 × 10-21, odds ratio 26.
A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions
Wouter De Coster·Rosa Rademakers·Natalie Woodman·William P. Cheshire·Mojca Stražišar·Saskia Hutten·Marleen Van den Broeck·Nikhil B Ghayal·Elise Coopman·Anne Sieben·Charles L. White·David Wallon·F. Lebert·Tamar Gefen·Brittany N. Dugger·Bart De Vil·Masud Husain·Merel O. Mol·I. R. A. Mackenzie·Patrick Cras·Sebastiaan Engelborghs·Peter De Rijk·István Bódi·Tim De Pooter·Sarah Wynants·Glenda M. Halliday·Annie Hiniker·Joanna M. Biernacka·Rafaela Policarpo·Aivi T. Nguyen·Fahri Küçükali·EunRan Suh·Shelley L. Forrest·Julia Keith·Júlia Faura·Jochen Herms·David G. Muñoz·Serge Belliard·Gregory D. Jenkins·Marka van Blitterswijk·Jolien Schaeverbeke·Stephen J. Haggarty·Wolfgang Singer·Olaf Ansorge·Jin Lee-Way·Sara Alidadiani·Jeroen G J van Rooij·Zbigniew K. Wszolek·Mariely DeJesus-Hernandez·Kathy L. Newell·Manuela Neumann·Ronald C. Petersen·Elizabeth C. Finger·Dorothee Dormann·Margaret Flanagan·Andrew P. King·Edward B. Lee·Geert Joris·Clifton L. Dalgard·Bruce L. Miller·Lea T. Grinberg·Bernardino Ghetti·Anthony Batzler·William W. Seeley·Marla Gearing·Rik Vandenberghe·Dietmar R. Thal·Claire Troakes·Sandra Weintraub·Lee-Cyn Ang·Bradley F. Boeve·Carlos Cruchaga·Gaël Nicolas·Melissa E. Murray·Julie van der Zee·Oscar L. Lopez·Lorne Zinman·Owen A. Ross·Jonathan D. Rohrer·Ekaterina Rogaeva·Alexandra I. Soto-Beasley·Thomas Arzberger·Susana Boluda·John C. van Swieten·Jennifer L. Whitwell·Dennis W. Dickson·Jasper Van Dongen·Gabor G. Kovacs·Marsel M. Mesulam·Raphael J. Gibbs·Jean-Charles Lambert·Safa Al-Sarraj·Qinwen Mao·Vincent Deramecourt·Sonja W. Scholz·Neill R. Graff-Radford·Mathieu Vandenbulcke·Bryan J. Traynor·Rudolph Castellani·Matt Baker·Robert A. Rissman·Tammaryn Lashley·Vivianna M. Van Deerlin·Florent Marguet·Sigrun Roeber·Kristel Sleegers·Florence Pasquier·Keith A. Josephs·Jonathan Glass·Harro Seelaar·Gerard D. Schellenberg·Howard J. Rosen·Adam L. Boxer·Ryan J. Uitti·Nilüfer Ertekin-Taner·R. Ross Reichard·Maria C. Tartaglia·Thomas Kukar·Salvatore Spina·Alissa L. Nana·Julia Kofler·Cyril Pottier·Svenn D’Hert
