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Phenotype associated with APP duplication in five families
Cabrejo L, Guyant-Maréchal L, Laquerrière A, Vercelletto M, De la Fournière F, Thomas-Antérion C, Verny C, Letournel F et al.. Brain : a journal of neurology, 2006-09-07
Topic: Brain proteins, microglia and lab models
Different duplications of the APP locus have been identified in five families with autosomal dominant early onset Alzheimer's disease (ADEOAD) and Abeta-related cerebral amyloid angiopathy (CAA). This study describes the phenotype of this new entity. Clinical, neuropsychological, imagery and neuropathological data were reviewed.
Key findings
- This study describes the phenotype of this new entity.
- Clinical, neuropsychological, imagery and neuropathological data were reviewed.
- The phenotype was not dependent on the size of the duplication and there was no clinical feature of Down's syndrome.
- Dementia was observed in all cases; intracerebral haemorrhage (ICH) was reported in 6 (26%) and seizures occurred in 12 (57%) of 21 patients.
Why it matters
This study describes the phenotype associated with APP duplication in five families with autosomal dominant early onset Alzheimer's disease and Abeta-related cerebral amyloid angiopathy, finding dementia in all cases. It is descriptive research on a genetic form of disease and does not provide a treatment, cure, or prevention.
Study details
- Participants21
- Evidence strengthLow
How this study scored 57/100
Published in a leading specialty journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Brain : a journal of neurology) |
| Journal's citation record | 4 / 4 | Brain: journal h-index 503 (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 | 2006 — older than 20 years, still counted |
| Sample size | 1 / 4 | 21 participants |
| 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 (participant count stated) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 6 / 7 | Cited 344 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 15.6 citations a year over 22 year(s) since 2006 |
| Impact for its field and year | 3 / 6 | Cited 6.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 22 other studies in this library |
| Still being cited | 2 / 4 | Cited 27 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Didier Hannequin: h-index 85 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | Centre National de la Recherche Scientifique: institution h-index 2,511 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 13 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 16959815) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 57 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
May need a subscription OpenAlex found no free copy of the full text (checked 6 Feb 1020), so the publisher may charge for it. The PubMed abstract is free.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
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.
APA 7th
Cabrejo, L., Guyant-Maréchal, L., Laquerrière, A., Vercelletto, M., De la Fournière, F., Thomas-Antérion, C., et al. (2006). Phenotype associated with APP duplication in five families. Brain : a journal of neurology. https://doi.org/10.1093/brain/awl237
Vancouver
Cabrejo L, Guyant-Maréchal L, Laquerrière A, Vercelletto M, De la Fournière F, Thomas-Antérion C, et al. Phenotype associated with APP duplication in five families. Brain : a journal of neurology. 2006. doi:10.1093/brain/awl237. PMID: 16959815.
BibTeX
@article{cabrejo2006-16959815,
author = {Cabrejo, L. and Guyant-Maréchal, L. and Laquerrière, A. and Vercelletto, M. and De la Fournière, F. and Thomas-Antérion, C. and Verny, C. and Letournel, F. and others},
title = {{Phenotype associated with APP duplication in five families}},
journal = {Brain : a journal of neurology},
year = {2006},
doi = {10.1093/brain/awl237},
pmid = {16959815},
url = {https://doi.org/10.1093/brain/awl237}
}
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