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Genetics of Alzheimer disease
Bekris LM, Yu CE, Bird TD, Tsuang DW.. Journal of geriatric psychiatry and neurology, 2010-12-01
Topic: Amyloid, tau and blood-test diagnosis
Alzheimer disease (AD) is the most common causes of neurodegenerative disorder in the elderly individuals. Clinically, patients initially present with short-term memory loss, subsequently followed by executive dysfunction, confusion, agitation, and behavioral disturbances. Three causative genes have been associated with autosomal dominant familial AD (APP, PSEN1, and PSEN2) and 1 genetic risk factor (APOEε4 allele).
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Bekris, L. M., Yu, C. E., Bird, T. D., & Tsuang, D. W. (2010). Genetics of Alzheimer disease. Journal of geriatric psychiatry and neurology. https://doi.org/10.1177/0891988710383571
Vancouver
Bekris LM, Yu CE, Bird TD, Tsuang DW. Genetics of Alzheimer disease. Journal of geriatric psychiatry and neurology. 2010. doi:10.1177/0891988710383571. PMID: 21045163.
BibTeX
@article{bekris2010-21045163,
author = {Bekris, L. M. and Yu, C. E. and Bird, T. D. and Tsuang, D. W.},
title = {{Genetics of Alzheimer disease}},
journal = {Journal of geriatric psychiatry and neurology},
year = {2010},
doi = {10.1177/0891988710383571},
pmid = {21045163},
url = {https://doi.org/10.1177/0891988710383571}
}
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Key findings
- Clinically, patients initially present with short-term memory loss, subsequently followed by executive dysfunction, confusion, agitation, and behavioral disturbances.
- Three causative genes have been associated with autosomal dominant familial AD (APP, PSEN1, and PSEN2) and 1 genetic risk factor (APOEε4 allele).
- Identification of these genes has led to a number of animal models that have been useful to study the pathogenesis underlying AD.
- In this article, we provide an overview of the clinical and genetic features of AD.
Why it matters
This review summarizes that mutations in three genes (APP, PSEN1, and PSEN2) cause autosomal dominant familial Alzheimer's disease, and the APOEε4 allele is a genetic risk factor. It provides an overview of the genetics but does not report a new treatment or cure.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Evidence strengthLow
How this study scored 53/100
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 (Journal of geriatric psychiatry and neurology) |
| Journal's citation record | 1 / 4 | Journal of Geriatric Psychiatry and Neurology: journal h-index 105 (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 | 2010 — 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 | 7 / 7 | Cited 1,028 times (OpenAlex, 2026-10-10) |
| Citations per year | 5 / 5 | 57.1 citations a year over 18 year(s) since 2010 |
| Impact for its field and year | 5 / 6 | Cited 25.4× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 4 / 6 | Cited by 33 other studies in this library |
| Still being cited | 3 / 4 | Cited 187 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Debby W. Tsuang: h-index 70 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | University of Washington: institution h-index 3,540 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 21045163) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 53 / 100 | — |
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