Acta Neuropathol (2010) 120:33–41 DOI 10.1007/s00401-010-0698-6 O R I G I N A L P A P E R FUS pathology deﬁnes the majority of tau- and TDP-43-negative frontotemporal lobar degeneration Hazel Urwin • Keith A. Josephs • Jonathan D. Rohrer • Ian R. Mackenzie • Manuela Neumann • Astrid Authier • Harro Seelaar • John C. Van Swieten • Jeremy M. Brown • Peter Johannsen • Jorgen E. Nielsen • Ida E. Holm • The FReJA Consortium • Dennis W. Dickson • Rosa Rademakers • Neill R. Graff-Radford • Joseph E. Parisi • Ronald C. Petersen • Kimmo J. Hatanpaa • Charles L. White III • Myron F. Weiner • Felix Geser • Vivianna M. Van Deerlin • John Q. Trojanowski • Bruce L. Miller • William W. Seeley • Julie van der Zee • Samir Kumar-Singh • Sebastiaan Engelborghs • Peter P. De Deyn • Christine Van Broeckhoven • Eileen H. Bigio • Han-Xiang Deng • Glenda M. Halliday • Jillian J. Kril • David G. Munoz • David M. Mann • Stuart M. Pickering-Brown • Valerie Doodeman • Gary Adamson • Shabnam Ghazi-Noori • Elizabeth M. C. Fisher • Janice L. Holton • Tamas Revesz • Martin N. Rossor • John Collinge • Simon Mead • Adrian M. Isaacs Received: 11 January 2010 / Revised: 20 April 2010 / Accepted: 8 May 2010 / Published online: 20 May 2010 The Author(s) 2010. This article is published with open access at Springerlink.com Abstract Through an international consortium, we have collected 37 tau- and TAR DNA-binding protein 43 (TDP- 43)-negative frontotemporal lobar degeneration (FTLD) cases, and present here the ﬁrst comprehensive analysis of Members of the FReJA consortium are listed in the Appendix. H. Urwin A. Authier G. Adamson S. Ghazi-Noori J. Collinge S. Mead A. M. Isaacs (&) MRC Prion Unit, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK e-mail: a.isaacs@prion.ucl.ac.uk J. D. Rohrer M. N. Rossor Dementia Research Centre, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK E. M. C. Fisher J. Collinge Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK J. L. Holton T. Revesz Department of Neuropathology, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK K. A. Josephs (&) R. C. Petersen Department of Neurology, Mayo Clinic, Rochester, MN, USA e-mail: Josephs.Keith@mayo.edu J. E. Parisi Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA these cases in terms of neuropathology, genetics, demo- graphics and clinical data. 92% (34/37) had fused in sarcoma (FUS) protein pathology, indicating that FTLD-FUS is an important FTLD subtype. This FTLD-FUS collection speciﬁcally focussed on aFTLD-U cases, one of three recently deﬁned subtypes of FTLD-FUS. The aFTLD-U subtype of I. R. Mackenzie Department of Pathology and Laboratory Medicine, Vancouver General Hospital, University of British Columbia, Vancouver, BC, Canada M. Neumann Institute of Neuropathology, University Hospital of Zurich, Zurich, Switzerland H. Seelaar J. C. Van Swieten Department of Neurology, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands J. M. Brown Department of Neurology, Addenbrooke’s Hospital, Cambridge, UK P. Johannsen J. E. Nielsen Memory Disorders Research Unit, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark J. E. Nielsen Department of Cellular and Molecular Medicine, Section of Neurogenetics, The Panum Institute, University of Copenhagen, Copenhagen, Denmark 123