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FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration.

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration.

Authors :
Urwin, Hazel
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
FReJA Consortium
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 MC
Holton, Janice L
Revesz, Tamas
Rossor, Martin N
Collinge, John
Mead, Simon
Isaacs, Adrian M
Urwin, Hazel
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
FReJA Consortium
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 MC
Holton, Janice L
Revesz, Tamas
Rossor, Martin N
Collinge, John
Mead, Simon
Isaacs, Adrian M
Source :
Acta neuropathologica; vol 120, iss 1, 33-41; 0001-6322
Publication Year :
2010

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 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 FTLD-FUS collection specifically focussed on aFTLD-U cases, one of three recently defined subtypes of FTLD-FUS. The aFTLD-U subtype of FTLD-FUS is characterised clinically by behavioural variant frontotemporal dementia (bvFTD) and has a particularly young age of onset with a mean of 41 years. Further, this subtype had a high prevalence of psychotic symptoms (36% of cases) and low prevalence of motor symptoms (3% of cases). We did not find FUS mutations in any aFTLD-U case. To date, the only subtype of cases reported to have ubiquitin-positive but tau-, TDP-43- and FUS-negative pathology, termed FTLD-UPS, is the result of charged multivesicular body protein 2B gene (CHMP2B) mutation. We identified three FTLD-UPS cases, which are negative for CHMP2B mutation, suggesting that the full complement of FTLD pathologies is yet to be elucidated.

Details

Database :
OAIster
Journal :
Acta neuropathologica; vol 120, iss 1, 33-41; 0001-6322
Notes :
application/pdf, Acta neuropathologica vol 120, iss 1, 33-41 0001-6322
Publication Type :
Electronic Resource
Accession number :
edsoai.on1367439778
Document Type :
Electronic Resource