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Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine
Irwin DJ, Cairns NJ, Grossman M, McMillan CT, Lee EB, Van Deerlin VM, Lee VM, Trojanowski JQ.. Acta neuropathologica, 2014-12-31
Topic: Brain proteins, microglia and lab models
Frontotemporal lobar degeneration (FTLD) comprises two main classes of neurodegenerative diseases characterized by neuronal/glial proteinaceous inclusions (i.e., proteinopathies) including tauopathies (i.e., FTLD-Tau) and TDP-43 proteinopathies (i.e., FTLD-TDP) while other very rare forms of FTLD are known such as FTLD with FUS pathology (FTLD-FUS). This review focuses mainly on FTLD-Tau and FLTD-TDP, which may present as several clinical syndromes: a behavioral/dysexecutive syndrome (behavioral variant frontotemporal dementia); language disorders (primary progressive aphasia variants); and motor disorders (amyotrophic lateral sclerosis, corticobasal syndrome, progressive supranuclear palsy syndrome). There is considerable heterogeneity in clinical presentations of underlying neuropathology and current clinical criteria do not reliably predict underlying proteinopathies ante-mortem.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Irwin, D. J., Cairns, N. J., Grossman, M., McMillan, C. T., Lee, E. B., Van Deerlin, V. M., et al. (2015). Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine. Acta neuropathologica. https://doi.org/10.1007/s00401-014-1380-1
Vancouver
Irwin DJ, Cairns NJ, Grossman M, McMillan CT, Lee EB, Van Deerlin VM, et al. Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine. Acta neuropathologica. 2015. doi:10.1007/s00401-014-1380-1. PMID: 25549971.
BibTeX
@article{irwin2015-25549971,
author = {Irwin, D. J. and Cairns, N. J. and Grossman, M. and McMillan, C. T. and Lee, E. B. and Van Deerlin, V. M. and Lee, V. M. and Trojanowski, J. Q.},
title = {{Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine}},
journal = {Acta neuropathologica},
year = {2015},
doi = {10.1007/s00401-014-1380-1},
pmid = {25549971},
url = {https://doi.org/10.1007/s00401-014-1380-1}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record names 8 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.
Key findings
- This review focuses mainly on FTLD-Tau and FLTD-TDP, which may present as several clinical syndromes: a behavioral/dysexecutive syndrome (behavioral variant frontotemporal dementia); language disorders (primary progressive aphasia variants); and motor disorders (amyotrophic lateral sclerosis, corticobasal syndrome, progressive supranuclear palsy syndrome).
- There is considerable heterogeneity in clinical presentations of underlying neuropathology and current clinical criteria do not reliably predict underlying proteinopathies ante-mortem.
- In contrast, molecular etiologies of hereditary FTLD are consistently associated with specific proteinopathies.
- These include MAPT mutations with FTLD-Tau and GRN, C9orf72, VCP and TARDBP with FTLD-TDP.
Why it matters
This review of frontotemporal lobar degeneration (FTLD) says the same underlying disease can appear as behavioural, language or motor syndromes, and that "current clinical criteria do not reliably predict underlying proteinopathies ante-mortem." The exception is hereditary FTLD: MAPT mutations are associated with FTLD-Tau, and GRN, C9orf72, VCP and TARDBP mutations with FTLD-TDP. It concerns FTLD, not Alzheimer's disease, and reports no treatment, cure or prevention.
Study details
- Evidence strengthLow
How this study scored 52/100
Published in a leading specialty journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Acta neuropathologica) |
| Journal's citation record | 3 / 4 | Acta Neuropathologica: journal h-index 287 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2015 — within 20 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 5 / 7 | Cited 266 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 20.5 citations a year over 13 year(s) since 2015 |
| Impact for its field and year | 4 / 6 | Cited 12.1× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 20 other studies in this library |
| Still being cited | 2 / 4 | Cited 48 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author John Q. Trojanowski: h-index 255 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Washington University in St. Louis: institution h-index 1,962 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 4 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 25549971) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 52 / 100 | — |
What each of these 20 components measures, and what this score is not →
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