FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Standard
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. / 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, Jørgen Erik; 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 M C; Holton, Janice L; Revesz, Tamas; Rossor, Martin N; Collinge, John; Mead, Simon; Isaacs, Adrian M.
I: Acta Neuropathologica, Bind 120, Nr. 1, 2010, s. 33-41.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
TY - JOUR
T1 - FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
AU - Urwin, Hazel
AU - Josephs, Keith A
AU - Rohrer, Jonathan D
AU - Mackenzie, Ian R
AU - Neumann, Manuela
AU - Authier, Astrid
AU - Seelaar, Harro
AU - Van Swieten, John C
AU - Brown, Jeremy M
AU - Johannsen, Peter
AU - Nielsen, Jørgen Erik
AU - Holm, Ida E
AU - FReJA Consortium
AU - Dickson, Dennis W
AU - Rademakers, Rosa
AU - Graff-Radford, Neill R
AU - Parisi, Joseph E
AU - Petersen, Ronald C
AU - Hatanpaa, Kimmo J
AU - White, Charles L
AU - Weiner, Myron F
AU - Geser, Felix
AU - Van Deerlin, Vivianna M
AU - Trojanowski, John Q
AU - Miller, Bruce L
AU - Seeley, William W
AU - van der Zee, Julie
AU - Kumar-Singh, Samir
AU - Engelborghs, Sebastiaan
AU - De Deyn, Peter P
AU - Van Broeckhoven, Christine
AU - Bigio, Eileen H
AU - Deng, Han-Xiang
AU - Halliday, Glenda M
AU - Kril, Jillian J
AU - Munoz, David G
AU - Mann, David M
AU - Pickering-Brown, Stuart M
AU - Doodeman, Valerie
AU - Adamson, Gary
AU - Ghazi-Noori, Shabnam
AU - Fisher, Elizabeth M C
AU - Holton, Janice L
AU - Revesz, Tamas
AU - Rossor, Martin N
AU - Collinge, John
AU - Mead, Simon
AU - Isaacs, Adrian M
PY - 2010
Y1 - 2010
N2 - 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.
AB - 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.
U2 - 10.1007/s00401-010-0698-6
DO - 10.1007/s00401-010-0698-6
M3 - Journal article
C2 - 20490813
VL - 120
SP - 33
EP - 41
JO - Acta Neuropathologica
JF - Acta Neuropathologica
SN - 0001-6322
IS - 1
ER -
ID: 20970336