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FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
- Source :
- Urwin , H , Josephs , KA , Rohrer , JD , Mackenzie , IR , Neumann , M , Authier , A , Seelaar , H , van Swieten , J C , Brown , JM , Johannsen , P , Nielsen , JE , Holm , IE , Dickson , DW , Rademakers , R , Graff-Radford , NR , Parisi , JE , Petersen , RC , Hatanpaa , KJ , White , CL , Weiner , MF , Geser , F , Van Deerlin , VM , Trojanowski , JQ , Miller , BL , Seeley , WW , Zee , JA , Kumar-Singh , S , Engelborghs , S , de Deyn , PP , van Broeckhoven , C , Bigio , EH , Deng , HX , Halliday , GM , Kril , JJ , Munoz , DG , Mann , DM , Pickering-Brown , SM , Doodeman , V , Adamson , G , Ghazi-Noori , S , Fisher , EMC , Holton , JL , Revesz , T , Rossor , MN , Collinge , J , Mead , S & Isaacs , AM 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
- 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 , KA , Rohrer , JD , Mackenzie , IR , Neumann , M , Authier , A , Seelaar , H , van Swieten , J C , Brown , JM , Johannsen , P , Nielsen , JE , Holm , IE , Dickson , DW , Rademakers , R , Graff-Radford , NR , Parisi , JE , Petersen , RC , Hatanpaa , KJ , White , CL , Weiner , MF , Geser , F , Van Deerlin , VM , Trojanowski , JQ , Miller , BL , Seeley , WW , Zee , JA , Kumar-Singh , S , Engelborghs , S , de Deyn , PP , van Broeckhoven , C , Bigio , EH , Deng , HX , Halliday , GM , Kril , JJ , Munoz , DG , Mann , DM , Pickering-Brown , SM , Doodeman , V , Adamson , G , Ghazi-Noori , S , Fisher , EMC , Holton , JL , Revesz , T , Rossor , MN , Collinge , J , Mead , S & Isaacs , AM 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 :
- application/pdf, und
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1313618485
- Document Type :
- Electronic Resource