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Defining the spectrum of frontotemporal dementias associated with TARDBP mutations
Caroppo P, Camuzat A, Guillot-Noel L, Thomas-Antérion C, Couratier P, Wong TH, Teichmann M, Golfier V et al.. Neurology. Genetics, 2016-05-26
Topic: Brain proteins, microglia and lab models
Objectives We describe the largest series of patients with TARDBP mutations presenting with frontotemporal dementia (FTD) and review the cases in the literature to precisely characterize FTD diseases associated with this genotype. Methods The phenotypic characteristics of 29 TARDBP patients, including 10 new French and Dutch cases and 19 reviewed from the literature, were evaluated. Results The most frequent phenotype was a behavioral variant frontotemporal dementia (bvFTD), but a significant proportion (40%) of our patients had semantic (svFTD) or nonfluent variants (nfvFTD) at onset; and svFTD was significantly more frequent in TARDBP carriers than in other FTD genotypes (p Conclusions This study enlarges the phenotypic spectrum of TARDBP and will have important clinical implications: (1) FTD can be the only clinical manifestation of TARDBP mutations; (2) Initial language or semantic disorders might be indicative of a specific genotype; (3) Mutations should be searched in all FTD phenotypes after exclusion of major genes, even in the absence of ALS in the proband or in family history; (4) reduced penetrance and clinical variability should be considered to deliver appropriate genetic counseling.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Caroppo, P., Camuzat, A., Guillot-Noel, L., Thomas-Antérion, C., Couratier, P., Wong, T. H., et al. (2016). Defining the spectrum of frontotemporal dementias associated with TARDBP mutations. Neurology. Genetics. https://doi.org/10.1212/nxg.0000000000000080
Vancouver
Caroppo P, Camuzat A, Guillot-Noel L, Thomas-Antérion C, Couratier P, Wong TH, et al. Defining the spectrum of frontotemporal dementias associated with TARDBP mutations. Neurology. Genetics. 2016. doi:10.1212/nxg.0000000000000080. PMID: 27280171.
BibTeX
@article{caroppo2016-27280171,
author = {Caroppo, P. and Camuzat, A. and Guillot-Noel, L. and Thomas-Antérion, C. and Couratier, P. and Wong, T. H. and Teichmann, M. and Golfier, V. and others},
title = {{Defining the spectrum of frontotemporal dementias associated with TARDBP mutations}},
journal = {Neurology. Genetics},
year = {2016},
doi = {10.1212/nxg.0000000000000080},
pmid = {27280171},
url = {https://doi.org/10.1212/nxg.0000000000000080}
}
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's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
Key findings
- Objectives We describe the largest series of patients with TARDBP mutations presenting with frontotemporal dementia (FTD) and review the cases in the literature to precisely characterize FTD diseases associated with this genotype.
- Results The most frequent phenotype was a behavioral variant frontotemporal dementia (bvFTD), but a significant proportion (40%) of our patients had semantic (svFTD) or nonfluent variants (nfvFTD) at onset; and svFTD was significantly more frequent in TARDBP carriers than in other FTD genotypes (p < 0.001).
Why it matters
This study described 29 patients with TARDBP mutations who had frontotemporal dementia and found that behavioral variant was most frequent, with 40% having semantic or nonfluent variants at onset. It concerns genetic characterization of frontotemporal dementia, not the treatment, cure, or prevention of Alzheimer's disease.
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Study details
- Evidence strengthLow
How this study scored 43/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomized / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Neurology. Genetics) |
| Journal's citation record | 0 / 4 | Neurology Genetics: journal h-index 53 (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 | 2016 — 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) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 4 / 7 | Cited 64 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 5.3 citations a year over 12 year(s) since 2016 |
| Impact for its field and year | 3 / 6 | Cited 3.2× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 4 other studies in this library |
| Still being cited | 1 / 4 | Cited 8 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Isabelle Le Ber: h-index 73 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | Centre National de la Recherche Scientifique: institution h-index 2,511 (OpenAlex) |
| Multicenter collaboration | 2 / 3 | OpenAlex lists 9 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 27280171) |
| Free to read | 2 / 2 | Free to read |
| Total | 43 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1212/nxg.0000000000000080
- PubMed: 27280171
- Original source →
- Free full text: Neurology Genetics →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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