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APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerrière A, Vital A, Dumanchin C, Feuillette S et al.. Nature genetics, 2005-12-20
Topic: Amyloid, tau and blood-test diagnosis
We report duplication of the APP locus on chromosome 21 in five families with autosomal dominant early-onset Alzheimer disease (ADEOAD) and cerebral amyloid angiopathy (CAA). Among these families, the duplicated segments had a minimal size ranging from 0.58 to 6.37 Mb. Brains from individuals with APP duplication showed abundant parenchymal and vascular deposits of amyloid-beta peptides.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Rovelet-Lecrux, A., Hannequin, D., Raux, G., Le Meur, N., Laquerrière, A., Vital, A., et al. (2006). APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nature genetics. https://doi.org/10.1038/ng1718
Vancouver
Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerrière A, Vital A, et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nature genetics. 2006. doi:10.1038/ng1718. PMID: 16369530.
BibTeX
@article{roveletlecrux2006-16369530,
author = {Rovelet-Lecrux, A. and Hannequin, D. and Raux, G. and Le Meur, N. and Laquerrière, A. and Vital, A. and Dumanchin, C. and Feuillette, S. and others},
title = {{APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy}},
journal = {Nature genetics},
year = {2006},
doi = {10.1038/ng1718},
pmid = {16369530},
url = {https://doi.org/10.1038/ng1718}
}
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Key findings
- Among these families, the duplicated segments had a minimal size ranging from 0.58 to 6.37 Mb.
- Brains from individuals with APP duplication showed abundant parenchymal and vascular deposits of amyloid-beta peptides.
- Duplication of the APP locus, resulting in accumulation of amyloid-beta peptides, causes ADEOAD with CAA.
Why it matters
This study found duplication of the APP locus in five families with autosomal dominant early-onset Alzheimer's disease and cerebral amyloid angiopathy, with brains showing abundant amyloid-beta deposits in tissue and vessels. It identifies a genetic cause of a rare inherited form of the disease rather than a treatment, cure or prevention.
Study details
- Evidence strengthLow
How this study scored 58/100
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 (Nature genetics) |
| Journal's citation record | 4 / 4 | Nature Genetics: journal h-index 776 (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 | 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 | 7 / 7 | Cited 1,254 times (OpenAlex, 2026-10-10) |
| Citations per year | 5 / 5 | 57.0 citations a year over 22 year(s) since 2006 |
| Impact for its field and year | 5 / 6 | Cited 39.9× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 4 / 6 | Cited by 72 other studies in this library |
| Still being cited | 3 / 4 | Cited 100 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Dominique Campion: h-index 88 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Inserm: institution h-index 1,988 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 8 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 16369530) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 58 / 100 | — |
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