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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-44434

Urwin, H; Josephs, K A; Rohrer, J D; Mackenzie, I R A; Neumann, M; Authier, A; Seelaar, H; Van Swieten, J C; Brown, J M; Johannsen, P; Nielsen, J E; Holm, I E; Dickson, D W; Rademakers, R; Graff-Radford, N R; Parisi, J E; Petersen, R C; Hatanpaa, K J; White, C L; Weiner, M F; Geser, F; Van Deerlin, V M; Trojanowski, J Q; Miller, B L; Seeley, W W; van der Zee, J; Kumar-Singh, S; Engelborghs, S; De Deyn, P P; Van Broeckhoven, C; Bigio, E H; Deng, H X; Halliday, G M; Kril, J J; Munoz, D G; Mann, D M; Pickering-Brown, S M; Doodeman, V; Adamson, G; Ghazi-Noori, S; Fisher, E M C; Holton, J L; Revesz, T; Rossor, M N; Collinge, J; Mead, S; Isaacs, A M (2010). FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathologica, 120(1):33-41.

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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.


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Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Institute of Neuropathology
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Deposited On:03 Feb 2011 19:21
Last Modified:27 Nov 2013 20:01
Free access at:PubMed ID. An embargo period may apply.
Publisher DOI:10.1007/s00401-010-0698-6
PubMed ID:20490813

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