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Slowly progressive behavioral frontotemporal dementia with C9orf72 mutation. Case report and review of the literature
Llamas-Velasco S, García-Redondo A, Herrero-San Martín A, Puertas Martín V, González-Sánchez M, Pérez-Martínez DA, Villarejo-Galende A.. Neurocase, 2018-01-22
Topic: Brain proteins, microglia and lab models
We present a 86-year-old woman without relevant medical history and two brothers who died by dementia, who started at 55 years with depression and personality changes with ongoing worsening (>30 years) and functional decline. Screening dementia blood test and brain magnetic resonance imaging did not show results that pointed to a secondary cause. The patient met the diagnostic criteria for possible behavioral frontotemporal dementia with a slow progression (bvFTD-SP), suggesting a benign variant. A genetic study confirmed a C9ORF72 hexanucleotide expansion, making this the sixth case mentioned in the literature. We review and discuss the other cases described previously.
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APA 7th
Llamas-Velasco, S., García-Redondo, A., Herrero-San Martín, A., Puertas Martín, V., González-Sánchez, M., Pérez-Martínez, D. A., et al. (2018). Slowly progressive behavioral frontotemporal dementia with C9orf72 mutation. Case report and review of the literature. Neurocase. https://doi.org/10.1080/13554794.2018.1428353
Vancouver
Llamas-Velasco S, García-Redondo A, Herrero-San Martín A, Puertas Martín V, González-Sánchez M, Pérez-Martínez DA, et al. Slowly progressive behavioral frontotemporal dementia with C9orf72 mutation. Case report and review of the literature. Neurocase. 2018. doi:10.1080/13554794.2018.1428353. PMID: 29355451.
BibTeX
@article{llamasvelasco2018-29355451,
author = {Llamas-Velasco, S. and García-Redondo, A. and Herrero-San Martín, A. and Puertas Martín, V. and González-Sánchez, M. and Pérez-Martínez, D. A. and Villarejo-Galende, A.},
title = {{Slowly progressive behavioral frontotemporal dementia with C9orf72 mutation. Case report and review of the literature}},
journal = {Neurocase},
year = {2018},
doi = {10.1080/13554794.2018.1428353},
pmid = {29355451},
url = {https://doi.org/10.1080/13554794.2018.1428353}
}
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 7 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
- Screening dementia blood test and brain magnetic resonance imaging did not show results that pointed to a secondary cause.
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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 and randomised / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record and multi-centre collaboration, so those were left out: it earned 25 of the 58 points we could judge it on, which is 43 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Neurocase) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| 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 | 2 / 5 | 2018 — within 10 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 | 3 / 3 | Studied in people (pubmed indexes it as a clinical or observational study) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 29355451) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 25 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 25 of the 58 points we could judge it on is 43 out of 100. |
| Total | 43 / 100 | — |
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