Article
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration.
Acta neuropathologica - 1 Jul 2010
Urwin Hazel, Josephs Keith A, Rohrer Jonathan D, Mackenzie Ian R, Neumann Manuela, Authier Astrid, Seelaar Harro, Van Swieten John C, Brown Jeremy M, Johannsen Peter, Nielsen Jorgen E, Holm Ida E, Dickson Dennis W, Rademakers Rosa, Graff-Radford Neill R, Parisi Joseph E, Petersen Ronald C, Hatanpaa Kimmo J, White Charles L, Weiner Myron F, Geser Felix, Van Deerlin Vivianna M, Trojanowski John Q, Miller Bruce L, Seeley William W, van der Zee Julie, Kumar-Singh Samir, Engelborghs Sebastiaan, De Deyn Peter P, Van Broeckhoven Christine, Bigio Eileen H, Deng Han-Xiang, Halliday Glenda M, Kril Jillian J, Munoz David G, Mann David M, Pickering-Brown Stuart M, Doodeman Valerie, Adamson Gary, Ghazi-Noori Shabnam, Fisher Elizabeth M C, Holton Janice L, Revesz Tamas, Rossor Martin N, Collinge John, Mead Simon, Isaacs Adrian M
Abstract excerpt
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 these cases in terms of neuropathology, genetics, demographics and clinical data. 92% (34/37) had fused in sarcoma (FUS) protein pathology, indicating that FTLD-FUS is an important FTLD subtype. This...
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