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Assessing family history and approaches for identifying patients with dementia with diagnostically significant genetic findings
Theresa König, Sara Silvaieh, Tandis Parvizi, Raphael Wurm, Stella Goeschl, Elena Uhlik, Clemens V. Farr, Evelyn Berger–Sieczkowski et al.. Genetics in Medicine, 2025-07-03
Topic: Risk, prevention and care in population studies
A positive family history was reported in 42% of patients in the Alzheimer disease cohort, 48% of patients in the frontotemporal dementia cohort, and 34% in those with other dementia types. Of 51 patients with high-risk identified, 38 had complete genetic data with 38% carrying diagnostically significant variants, including APP, PSEN1, MAPT, PGRN, C9ORF72, and APOE4/4. Strict onset criteria (<60 years) missed 4 patients with APOE4/4 genotype and 1 with a C9ORF72 repeat expansion. Our findings emphasize the need for improved genetic testing infrastructure in memory clinics. The proposed classification enhanced diagnostic yield to 39%, compared with 20% in routine practice. However, overly strict criteria may miss important findings crucial with the emergence of new anti-amyloid therapies.
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APA 7th
König, T., Silvaieh, S., Parvizi, T., Wurm, R., Goeschl, S., Uhlik, E., et al. (2025). Assessing family history and approaches for identifying patients with dementia with diagnostically significant genetic findings. Genetics in Medicine. https://doi.org/10.1016/j.gim.2025.101517
Vancouver
König T, Silvaieh S, Parvizi T, Wurm R, Goeschl S, Uhlik E, et al. Assessing family history and approaches for identifying patients with dementia with diagnostically significant genetic findings. Genetics in Medicine. 2025. doi:10.1016/j.gim.2025.101517. PMID: 40621734.
BibTeX
@article{konig2025-40621734,
author = {König, Theresa and Silvaieh, Sara and Parvizi, Tandis and Wurm, Raphael and Goeschl, Stella and Uhlik, Elena and Farr, Clemens V. and Berger–Sieczkowski, Evelyn and others},
title = {{Assessing family history and approaches for identifying patients with dementia with diagnostically significant genetic findings}},
journal = {Genetics in Medicine},
year = {2025},
doi = {10.1016/j.gim.2025.101517},
pmid = {40621734},
url = {https://doi.org/10.1016/j.gim.2025.101517}
}
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
- A positive family history was reported in 42% of patients in the Alzheimer disease cohort, 48% of patients in the frontotemporal dementia cohort, and 34% in those with other dementia types.
- Of 51 patients with high-risk identified, 38 had complete genetic data with 38% carrying diagnostically significant variants, including APP, PSEN1, MAPT, PGRN, C9ORF72, and APOE4/4.
- Strict onset criteria (<60 years) missed 4 patients with APOE4/4 genotype and 1 with a C9ORF72 repeat expansion.
- Our findings emphasize the need for improved genetic testing infrastructure in memory clinics.
- The proposed classification enhanced diagnostic yield to 39%, compared with 20% in routine practice.
Why it matters
Among patients with dementia, a positive family history was common, and of 38 patients with complete genetic data, 38% carried diagnostically significant variants including APP, PSEN1, MAPT, PGRN, C9ORF72 and APOE4/4. The authors say improved genetic testing infrastructure is needed in memory clinics, and that overly strict onset criteria may miss findings important with the emergence of new anti-amyloid therapies.
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Study details
- Participants701
- Evidence strengthModerate
How this study scored 43/100
Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomized / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Genetics in Medicine) |
| Journal's citation record | 2 / 4 | Genetics in Medicine: journal h-index 204 (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 | 3 / 5 | Rated “moderate” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 4 / 5 | 2025 — within 3 year(s) of the newest study here |
| Sample size | 2 / 4 | 701 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 1 / 7 | Cited 4 times (OpenAlex, 2026-10-10) |
| Citations per year | 1 / 5 | 1.3 citations a year over 3 year(s) since 2025 |
| Impact for its field and year | 2 / 6 | Cited 2.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 1 / 4 | Cited 4 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 2 / 4 | Last-listed author Elisabeth Stögmann: h-index 31 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Medical University of Vienna: institution h-index 818 (OpenAlex) |
| Multicenter collaboration | 0 / 3 | OpenAlex lists 1 institution(s) in 1 country — scores zero (affiliation lists can be incomplete) |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 40621734) |
| Free to read | 2 / 2 | Free to read |
| Total | 43 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1016/j.gim.2025.101517
- PubMed: 40621734
- Original source →
- Free full text: Genetics in Medicine →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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