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Influence of the amyloid precursor protein locus on dementia in Down syndrome
Margallo-Lana M, Morris CM, Gibson AM, Tan AL, Kay DW, Tyrer SP, Moore BP, Ballard CG.. Neurology, 2004-06-01
Topic: Brain proteins, microglia and lab models
Plain-language summary
Background The amyloid precursor protein (APP) locus on chromosome 21 influences the development of Alzheimer disease. Method The authors investigated the relationship between a tetranucleotide repeat on intron 7 of the APP gene and the age at onset of dementia in Down syndrome (DS). Results There was a 13-year difference in the age at onset of dementia in DS associated with the number of tetranucleotide repeat alleles in APP. Conclusion APP is an important locus predicting the age at onset of dementia in people with Down syndrome.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Margallo-Lana, M., Morris, C. M., Gibson, A. M., Tan, A. L., Kay, D. W., Tyrer, S. P., et al. (2004). Influence of the amyloid precursor protein locus on dementia in Down syndrome. Neurology. https://doi.org/10.1212/01.wnl.0000129275.13169.be
Vancouver
Margallo-Lana M, Morris CM, Gibson AM, Tan AL, Kay DW, Tyrer SP, et al. Influence of the amyloid precursor protein locus on dementia in Down syndrome. Neurology. 2004. doi:10.1212/01.wnl.0000129275.13169.be. PMID: 15184603.
BibTeX
@article{margallolana2004-15184603,
author = {Margallo-Lana, M. and Morris, C. M. and Gibson, A. M. and Tan, A. L. and Kay, D. W. and Tyrer, S. P. and Moore, B. P. and Ballard, C. G.},
title = {{Influence of the amyloid precursor protein locus on dementia in Down syndrome}},
journal = {Neurology},
year = {2004},
doi = {10.1212/01.wnl.0000129275.13169.be},
pmid = {15184603},
url = {https://doi.org/10.1212/01.wnl.0000129275.13169.be}
}
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 8 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
- Results There was a 13-year difference in the age at onset of dementia in DS associated with the number of tetranucleotide repeat alleles in APP.
Why it matters
In people with Down syndrome, the number of tetranucleotide repeat alleles in the APP gene was associated with a 13-year difference in the age at onset of dementia. The authors conclude that APP is an important locus predicting the age at onset of dementia in people with Down syndrome, but the study does not test a treatment or cure.
Study details
- Evidence strengthLow
Limitations
The abstract does not state how many people were studied, which matters for judging how reliable a 13-year age-difference estimate is.
How this study scored 43/100
Published in a leading specialty 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 | 9 / 10 | Tier 2 — leading specialty journal (Neurology) |
| Journal's citation record | 4 / 4 | Neurology: journal h-index 525 (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 | 2004 — 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) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 4 / 7 | Cited 43 times (OpenAlex, 2026-10-10) |
| Citations per year | 1 / 5 | 1.8 citations a year over 24 year(s) since 2004 |
| Impact for its field and year | 2 / 6 | Cited 1.6× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 8 other studies in this library |
| Still being cited | 1 / 4 | Cited 4 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Clive G. Ballard: h-index 141 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Newcastle University: institution h-index 932 (OpenAlex) |
| Multicenter collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 15184603) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 43 / 100 | — |
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