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Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder
St George-Hyslop PH, Haines JL, Farrer LA, Polinsky R, Van Broeckhoven C, Goate A, McLachlan DR, Orr H et al.. Nature, 1990-09-01
Topic: Amyloid, tau and blood-test diagnosis
Alzheimer's disease, a fatal neurodegenerative disorder of unknown aetiology, is usually considered to be a single disorder because of the general uniformity of the disease phenotype. Two recent genetic linkage studies revealed co-segregation of familial Alzheimer disease with the D21S1/S11 and D21S16 loci on chromosome 21. But two other studies, one of predominantly multiplex kindreds with a late age-of-onset, the other of a cadre of kindreds with a unique Volga German ethnic origin, found absence of linkage at least to D21S1/S11.
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APA 7th
St George-Hyslop, P. H., Haines, J. L., Farrer, L. A., Polinsky, R., Van Broeckhoven, C., Goate, A., et al. (1990). Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature. https://doi.org/10.1038/347194a0
Vancouver
St George-Hyslop PH, Haines JL, Farrer LA, Polinsky R, Van Broeckhoven C, Goate A, et al. Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature. 1990. doi:10.1038/347194a0. PMID: 2395471.
BibTeX
@article{stgeorgehyslop1990-2395471,
author = {St George-Hyslop, P. H. and Haines, J. L. and Farrer, L. A. and Polinsky, R. and Van Broeckhoven, C. and Goate, A. and McLachlan, D. R. and Orr, H. and others},
title = {{Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder}},
journal = {Nature},
year = {1990},
doi = {10.1038/347194a0},
pmid = {2395471},
url = {https://doi.org/10.1038/347194a0}
}
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Key findings
- Two recent genetic linkage studies revealed co-segregation of familial Alzheimer disease with the D21S1/S11 and D21S16 loci on chromosome 21.
- But two other studies, one of predominantly multiplex kindreds with a late age-of-onset, the other of a cadre of kindreds with a unique Volga German ethnic origin, found absence of linkage at least to D21S1/S11.
- So far it has not been possible to discern whether these conflicting reports reflect aetiological heterogeneity, differences in methods of pedigree selection, effects of confounding variables in the analysis (for example, diagnostic errors, assortative matings), or true non-replication.
- To resolve this issue, we have now examined the inheritance of five polymorphic DNA markers from the proximal long arm of chromosome 21 in a large unselected series of pedigrees with familial Alzheimer's disease.
Why it matters
Earlier family studies disagreed on whether inherited Alzheimer's disease tracks with markers on chromosome 21: two found that it did, while two others — in late-onset families and in families of Volga German origin — found it did not. To work out whether this meant different causes, different ways of choosing families, diagnostic errors or simple non-replication, the authors traced five DNA markers on chromosome 21 through a large unselected series of affected families, and concluded (per the title) that Alzheimer's "is not a single homogeneous disorder." It identifies marker regions, not a gene, and does not offer any treatment, prevention or individual risk test.
Study details
- Evidence strengthLow
How this study scored 55/100
Published in a top-tier 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 | 10 / 10 | Tier 1 — top-tier general journal (Nature) |
| Journal's citation record | 4 / 4 | Nature: journal h-index 1,841 (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 | 1990 — 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 | 6 / 7 | Cited 393 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 10.3 citations a year over 38 year(s) since 1990 |
| Impact for its field and year | 6 / 6 | Cited 49.9× 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 | 0 / 4 | Cited 2 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author John Hardy: h-index 205 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | Harvard University: institution h-index 3,235 (OpenAlex) |
| Multicenter collaboration | 3 / 3 | OpenAlex lists 23 institution(s) in 8 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 2395471) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 55 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1038/347194a0
- PubMed: 2395471
- Original source →
- Free full text: IRIS UNIMORE (University of Modena and Reggio Emilia) →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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