The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
Open accessAbstract
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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Cites
Amyloid oligomers exacerbate tau pathology in a mouse model of tauopathy
Selenica, M.-L. B., Brownlow, M., Jimenez, J. P., Lee, D. C., Pena, G., Dickey, C. A., Gordon, M. N., & Morgan, D. (2013) · Neurodegenerative Diseases · doi:10.1159/000337230 · Cited by 10,359
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
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Self-citationAssociation of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
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Self-citationMutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
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Self-citationMutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
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Self-citationPhosphorylated TDP‐43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
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Self-citationClinical, genetic and pathological heterogeneity of frontotemporal dementia: A review
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Self-citationBehavioural-variant frontotemporal dementia: diagnosis, clinical staging, and management
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Metadata
- Authors
- The FReJA Consortium, 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., Dickson, D. W., Rademakers, R., Graff-Radford, N. R., Parisi, J. E., Petersen, R. C., Hatanpaa, K. J., White III, 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.
- Venue
- Acta Neuropathologica
- Published
- 2010-05-20
- Volume
- 120
- Issue
- 1
- Pages
- 33-41
- ISSN
- 0001-6322 (ISSN-L)
- 1432-0533
- OpenAlex
- W2137807688
- Cited by
- 248
- References
- 9
- FWCI
- 17.19
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- The FReJA Consortium, 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., Dickson, D. W., Rademakers, R., Graff-Radford, N. R., Parisi, J. E., Petersen, R. C., Hatanpaa, K. J., . . . Isaacs, A. M. (2010). FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathologica. https://doi.org/10.1007/s00401-010-0698-6
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