Back to Search
Start Over
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
- Source :
- Urwin , H , Josephs , K A , Rohrer , J D , Mackenzie , I R , Neumann , M , Authier , A , Seelaar , H , Van Swieten , J C , Brown , J M , Johannsen , P , Nielsen , J E , Holm , I E , FReJA Consortium , 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 , vol. 120 , no. 1 , pp. 33-41 .
- Publication Year :
- 2010
-
Abstract
- Udgivelsesdato: 2010-Jul<br />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 :
- Urwin , H , Josephs , K A , Rohrer , J D , Mackenzie , I R , Neumann , M , Authier , A , Seelaar , H , Van Swieten , J C , Brown , J M , Johannsen , P , Nielsen , J E , Holm , I E , FReJA Consortium , 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 , vol. 120 , no. 1 , pp. 33-41 .
- Notes :
- English
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.ocn842758008
- Document Type :
- Electronic Resource