Journal
ACTA NEUROPATHOLOGICA
Volume 120, Issue 1, Pages 33-41Publisher
SPRINGER
DOI: 10.1007/s00401-010-0698-6
Keywords
FTLD; FUS; FTLD-UPS; Frontotemporal; FTD
Categories
Funding
- Department of Health's NIHR Biomedical Research Centres
- Medical Research Council, UK
- National Institute on Aging, National Institutes of Health [P30 AG012300, P30 AG13854, P50 AG16574, AG10124, AG17546]
- National Center for Research Resources, National Institutes of Health [UL1RR024982]
- National Institutes of Health [NIH NS65782-01 J]
- FWO-V
- network of the Belgian Science Policy Office (BELSPO) [IAP P6/43]
- Winspear Family Center for Research on the Neuropathology of Alzheimer Disease
- McCune Foundation
- Medical Research Council [MC_U123160657, G0601846, G0801306, G0701441, MC_U123182015] Funding Source: researchfish
- MRC [MC_U123182015, G0601846, G0701441, MC_U123160657, G0801306] Funding Source: UKRI
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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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