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APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy
Sleegers K, Brouwers N, Gijselinck I, Theuns J, Goossens D, Wauters J, Del-Favero J, Cruts M et al.. Brain : a journal of neurology, 2006-08-18
Topic: Amyloid, tau and blood-test diagnosis
We assessed the impact of amyloid precursor protein (APP) gene locus duplications in early onset Alzheimer's disease in a Dutch population-based sample. Using real-time PCR and an in-house-developed multiplex amplicon quantification assay, we identified a genomic APP duplication in 1 out of 10 multigenerational families segregating early onset Alzheimer's disease. In this family, cerebral amyloid angiopathy (CAA) coincided with this disease.
Key findings
- Using real-time PCR and an in-house-developed multiplex amplicon quantification assay, we identified a genomic APP duplication in 1 out of 10 multigenerational families segregating early onset Alzheimer's disease.
- In this family, cerebral amyloid angiopathy (CAA) coincided with this disease.
- The duplicated genomic region included no other genes than APP and extended maximally over 0.7 Mb.
- In a sample of 65 familial early onset patients, we observed the same APP genomic duplication in one patient (1.7%), while in 36 isolated patients duplications in the APP locus were absent.
Why it matters
This study found a genomic duplication of the APP gene in 1 of 10 multigenerational families with early onset Alzheimer's disease and in one of 65 familial early onset patients, with cerebral amyloid angiopathy in that family. It identifies a genetic cause in rare families and does not report a treatment, cure, or prevention.
Study details
- Effect size1.7%
- Evidence strengthLow
How this study scored 54/100
Published in a leading specialty journal. Scored zero for study design, sample size, 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 (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 | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 2 / 3 | Effect reported as a number, without an interval or test |
| 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 | 6 / 7 | Cited 409 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 18.6 citations a year over 22 year(s) since 2006 |
| Impact for its field and year | 4 / 6 | Cited 12.2× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 24 other studies in this library |
| Still being cited | 3 / 4 | Cited 57 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Christine Van Broeckhoven: h-index 140 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Erasmus MC: institution h-index 1,321 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 16921174) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 54 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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
Sleegers, K., Brouwers, N., Gijselinck, I., Theuns, J., Goossens, D., Wauters, J., et al. (2006). APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy. Brain : a journal of neurology. https://doi.org/10.1093/brain/awl203
Vancouver
Sleegers K, Brouwers N, Gijselinck I, Theuns J, Goossens D, Wauters J, et al. APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy. Brain : a journal of neurology. 2006. doi:10.1093/brain/awl203. PMID: 16921174.
BibTeX
@article{sleegers2006-16921174,
author = {Sleegers, K. and Brouwers, N. and Gijselinck, I. and Theuns, J. and Goossens, D. and Wauters, J. and Del-Favero, J. and Cruts, M. and others},
title = {{APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy}},
journal = {Brain : a journal of neurology},
year = {2006},
doi = {10.1093/brain/awl203},
pmid = {16921174},
url = {https://doi.org/10.1093/brain/awl203}
}
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