Genetic heterogeneity in Alzheimer disease and implications for treatment strategies
Ringman JM, Goate A, Masters CL, Cairns NJ, Danek A, Graff-Radford N, Ghetti B, Morris JC et al.. Current neurology and neuroscience reports, 2014-11-01
Topic: Amyloid, tau and blood-test diagnosis
Since the original publication describing the illness in 1907, the genetic understanding of Alzheimer's disease (AD) has advanced such that it is now clear that it is a genetically heterogeneous condition, the subtypes of which may not uniformly respond to a given intervention. It is therefore critical to characterize the clinical and preclinical stages of AD subtypes, including the rare autosomal dominant forms caused by known mutations in the PSEN1, APP, and PSEN2 genes that are being studied in the Dominantly Inherited Alzheimer Network study and its associated secondary prevention trial. Similar efforts are occurring in an extended Colombian family with a PSEN1 mutation, in APOE ε4 homozygotes, and in Down syndrome. Despite commonalities in the mechanisms producing the AD phenotype, there are also differences that reflect specific genetic origins. Treatment modalities should be chosen and trials designed with these differences in mind. Ideally, the varying pathological cascades involved in the different subtypes of AD should be defined so that both areas of overlap and of distinct differences can be taken into account. At the very least, clinical trials should determine the influence of known genetic factors in post hoc analyses.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Ringman, J. M., Goate, A., Masters, C. L., Cairns, N. J., Danek, A., Graff-Radford, N., et al. (2014). Genetic heterogeneity in Alzheimer disease and implications for treatment strategies. Current neurology and neuroscience reports. https://doi.org/10.1007/s11910-014-0499-8
Vancouver
Ringman JM, Goate A, Masters CL, Cairns NJ, Danek A, Graff-Radford N, et al. Genetic heterogeneity in Alzheimer disease and implications for treatment strategies. Current neurology and neuroscience reports. 2014. doi:10.1007/s11910-014-0499-8. PMID: 25217249.
BibTeX
@article{ringman2014-25217249,
author = {Ringman, J. M. and Goate, A. and Masters, C. L. and Cairns, N. J. and Danek, A. and Graff-Radford, N. and Ghetti, B. and Morris, J. C. and others},
title = {{Genetic heterogeneity in Alzheimer disease and implications for treatment strategies}},
journal = {Current neurology and neuroscience reports},
year = {2014},
doi = {10.1007/s11910-014-0499-8},
pmid = {25217249},
url = {https://doi.org/10.1007/s11910-014-0499-8}
}
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.
Key findings
- Similar efforts are occurring in an extended Colombian family with a PSEN1 mutation, in APOE ε4 homozygotes, and in Down syndrome.
- Despite commonalities in the mechanisms producing the AD phenotype, there are also differences that reflect specific genetic origins.
- Treatment modalities should be chosen and trials designed with these differences in mind.
- Ideally, the varying pathological cascades involved in the different subtypes of AD should be defined so that both areas of overlap and of distinct differences can be taken into account.
- At the very least, clinical trials should determine the influence of known genetic factors in post hoc analyses.
Why it matters
This review argues that Alzheimer disease is genetically heterogeneous, so subtypes may not respond the same way to a given treatment. It recommends that trials account for genetic differences but reports no treatment or prevention result itself.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Evidence strengthLow
How this study scored 45/100
Published in a peer-reviewed 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 | 7 / 10 | Tier 3 — peer-reviewed journal (Current neurology and neuroscience reports) |
| Journal's citation record | 1 / 4 | Current Neurology and Neuroscience Reports: journal h-index 124 (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 | 2014 — within 20 year(s) of the newest study here |
| 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 | 4 / 7 | Cited 97 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 6.9 citations a year over 14 year(s) since 2014 |
| Impact for its field and year | 3 / 6 | Cited 3.7× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 5 other studies in this library |
| Still being cited | 2 / 4 | Cited 25 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author John C. Morris: h-index 209 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Washington University in St. Louis: institution h-index 1,962 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 9 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 25217249) |
| Free to read | 2 / 2 | Free to read |
| Total | 45 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1007/s11910-014-0499-8
- PubMed: 25217249
- Original source →
- Free full text: Current Neurology and Neuroscience Reports →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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