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Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease
Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M et al.. Human molecular genetics, 1998-01-01
Topic: Amyloid, tau and blood-test diagnosis
Two closely related genes, the presenilins ( PS ), located at chromosomes 14q24.3 and 1q42.1, have been identified for autosomal dominant Alzheimer disease (AD) with onset age below 65 years (presenile AD). We performed a systematic mutation analysis of all coding and 5'-non-coding exons of PS -1 and PS -2 in a population-based epidemiological series of 101 unrelated familial and sporadic presenile AD cases. The familial cases included 10 patients of autosomal dominant AD families sampled for linkage analysis studies.
Key findings
- We performed a systematic mutation analysis of all coding and 5'-non-coding exons of PS -1 and PS -2 in a population-based epidemiological series of 101 unrelated familial and sporadic presenile AD cases.
- The familial cases included 10 patients of autosomal dominant AD families sampled for linkage analysis studies.
- In all patients mutations in the amyloid precursor protein gene ( APP ) had previously been excluded.
- Four different PS -1 missense mutations were identified in six familial cases, two of which where autosomal dominant cases.
Why it matters
Researchers screened both presenilin genes (PS-1 and PS-2) in 101 unrelated people with Alzheimer's that began before age 65, drawn from a population-based series in which APP gene mutations had already been ruled out. They found four different PS-1 mutations in six people, all from familial cases (two from families with a clear dominant inheritance pattern). The study measures how often these genes are involved in early-onset disease; it does not apply to typical late-onset Alzheimer's and offers no treatment.
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Study details
- Evidence strengthLow
How this study scored 50/100
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 (Human molecular genetics) |
| Journal's citation record | 3 / 4 | Human Molecular Genetics: journal h-index 356 (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 | 1998 — 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) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 6 / 7 | Cited 432 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 14.4 citations a year over 30 year(s) since 1998 |
| Impact for its field and year | 4 / 6 | Cited 18.3× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 21 other studies in this library |
| Still being cited | 2 / 4 | Cited 15 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 | 2 / 3 | University of Toronto: institution h-index 1,923 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 5 institution(s) in 4 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 9384602) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 50 / 100 | — |
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Read the original
- DOI: 10.1093/hmg/7.1.43
- PubMed: 9384602
- Original source →
- Free full text: Human Molecular Genetics →
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
Cruts, M., van Duijn, C. M., Backhovens, H., Van den Broeck, M., Wehnert, A., Serneels, S., et al. (1998). Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Human molecular genetics. https://doi.org/10.1093/hmg/7.1.43
Vancouver
Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, et al. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Human molecular genetics. 1998. doi:10.1093/hmg/7.1.43. PMID: 9384602.
BibTeX
@article{cruts1998-9384602,
author = {Cruts, M. and van Duijn, C. M. and Backhovens, H. and Van den Broeck, M. and Wehnert, A. and Serneels, S. and Sherrington, R. and Hutton, M. and others},
title = {{Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease}},
journal = {Human molecular genetics},
year = {1998},
doi = {10.1093/hmg/7.1.43},
pmid = {9384602},
url = {https://doi.org/10.1093/hmg/7.1.43}
}
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