| Title |
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
|
|---|---|
| Published in |
Acta Neuropathologica, May 2010
|
| DOI | 10.1007/s00401-010-0698-6 |
| Pubmed ID | |
| Authors |
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 |
| 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. |
Mendeley readers
The data shown below were compiled from readership statistics for 206 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | <1% |
| Czechia | 1 | <1% |
| United Kingdom | 1 | <1% |
| Brazil | 1 | <1% |
| Spain | 1 | <1% |
| Belgium | 1 | <1% |
| Japan | 1 | <1% |
| Philippines | 1 | <1% |
| Unknown | 197 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 49 | 24% |
| Researcher | 45 | 22% |
| Student > Master | 18 | 9% |
| Professor | 11 | 5% |
| Student > Doctoral Student | 10 | 5% |
| Other | 41 | 20% |
| Unknown | 32 | 16% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 59 | 29% |
| Neuroscience | 38 | 18% |
| Agricultural and Biological Sciences | 32 | 16% |
| Biochemistry, Genetics and Molecular Biology | 17 | 8% |
| Psychology | 8 | 4% |
| Other | 13 | 6% |
| Unknown | 39 | 19% |
Attention Score in Context
This research output has an Altmetric Attention Score of 5. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 15 September 2012.
All research outputs
#5,850,115
of 22,678,224 outputs
Outputs from Acta Neuropathologica
#1,215
of 2,358 outputs
Outputs of similar age
#27,714
of 94,201 outputs
Outputs of similar age from Acta Neuropathologica
#5
of 14 outputs
Altmetric has tracked 22,678,224 research outputs across all sources so far. This one has received more attention than most of these and is in the 73rd percentile.
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We're also able to compare this research output to 14 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 64% of its contemporaries.