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Genetic dissection of Alzheimer disease, a heterogeneous disorder
Schellenberg GD.. Proceedings of the National Academy of Sciences of the United States of America, 1995-09-01
Topic: Amyloid, tau and blood-test diagnosis
Plain-language summary
The genetics of Alzheimer disease (AD) are complex and not completely understood. Mutations in the amyloid precursor protein gene (APP) can cause early-onset autosomal dominant AD. In vitro studies indicate that cells expressing mutant APPs overproduce pathogenic forms of the A beta peptide, the major component of AD amyloid.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Schellenberg, G. D. (1995). Genetic dissection of Alzheimer disease, a heterogeneous disorder. Proceedings of the National Academy of Sciences of the United States of America. https://doi.org/10.1073/pnas.92.19.8552
Vancouver
Schellenberg GD. Genetic dissection of Alzheimer disease, a heterogeneous disorder. Proceedings of the National Academy of Sciences of the United States of America. 1995. doi:10.1073/pnas.92.19.8552. PMID: 7567974.
BibTeX
@article{schellenberg1995-7567974,
author = {Schellenberg, G. D.},
title = {{Genetic dissection of Alzheimer disease, a heterogeneous disorder}},
journal = {Proceedings of the National Academy of Sciences of the United States of America},
year = {1995},
doi = {10.1073/pnas.92.19.8552},
pmid = {7567974},
url = {https://doi.org/10.1073/pnas.92.19.8552}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
Key findings
- Mutations in the amyloid precursor protein gene (APP) can cause early-onset autosomal dominant AD.
- In vitro studies indicate that cells expressing mutant APPs overproduce pathogenic forms of the A beta peptide, the major component of AD amyloid.
- However, mutations in the APP gene are responsible for 5% or less of all early-onset familial AD.
- A locus on chromosome 14 is responsible for AD in other early-onset AD families and represents the most severe form of the disease in terms of age of onset and rate of decline.
Why it matters
This review of Alzheimer's genetics notes that APP mutations cause early-onset autosomal dominant disease but account for 5% or less of all early-onset familial cases, with a chromosome 14 locus responsible for other families. It is a genetic overview and does not itself provide a treatment, cure, or prevention.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Evidence strengthLow
How this study scored 42/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomized / blinded because the record does not state it. We have no data on institution's track record, so that was left out: it earned 41 of the 97 points we could judge it on, which is 42 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Proceedings of the National Academy of Sciences of the United States of America) |
| Journal's citation record | 4 / 4 | Proceedings of the National Academy of Sciences: journal h-index 1,167 (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 | 1995 — 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 | 5 / 7 | Cited 178 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 5.4 citations a year over 33 year(s) since 1995 |
| Impact for its field and year | 4 / 6 | Cited 14.4× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 4 other studies in this library |
| Still being cited | 0 / 4 | Cited 0 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Gerard D. Schellenberg: h-index 94 (OpenAlex, whole career) |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multicenter collaboration | 0 / 3 | OpenAlex lists 0 institution(s) in 0 countries — scores zero (affiliation lists can be incomplete) |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 7567974) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 41 / 97 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 41 of the 97 points we could judge it on is 42 out of 100. |
| Total | 42 / 100 | — |
What each of these 20 components measures, and what this score is not →
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