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New frontiers in Alzheimer's disease genetics
Tanzi RE, Bertram L.. Neuron, 2001-10-01
Topic: Amyloid, tau and blood-test diagnosis
Alzheimer's disease (AD) is a genetically complex disorder that accounts for the majority of dementia in the elderly population. Over 100 rare, highly penetrant mutations have been described in three genes (APP, PSEN1, PSEN2) for early-onset familial AD. In the more common late-onset form, a polymorphism in the apolipoprotein E gene has been associated with increased susceptibility.
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APA 7th
Tanzi, R. E., & Bertram, L. (2001). New frontiers in Alzheimer's disease genetics. Neuron. https://doi.org/10.1016/s0896-6273(01)00476-7
Vancouver
Tanzi RE, Bertram L. New frontiers in Alzheimer's disease genetics. Neuron. 2001. doi:10.1016/s0896-6273(01)00476-7. PMID: 11683989.
BibTeX
@article{tanzi2001-11683989,
author = {Tanzi, R. E. and Bertram, L.},
title = {{New frontiers in Alzheimer's disease genetics}},
journal = {Neuron},
year = {2001},
doi = {10.1016/s0896-6273(01)00476-7},
pmid = {11683989},
url = {https://doi.org/10.1016/s0896-6273(01)00476-7}
}
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Key findings
- Over 100 rare, highly penetrant mutations have been described in three genes (APP, PSEN1, PSEN2) for early-onset familial AD.
- In the more common late-onset form, a polymorphism in the apolipoprotein E gene has been associated with increased susceptibility.
- However, recent studies suggest that these four genes account for less than 30% of the genetic variance for AD and that more genetic factors remain to be identified.
- In this review, we present a brief history of AD genetics and preview some of the next frontiers in Alzheimer gene discovery primarily focusing on chromosomes 12, 10, and 9.
Why it matters
This review states that over 100 rare mutations in three genes cause early-onset familial Alzheimer's disease, that a polymorphism in the apolipoprotein E gene is associated with increased susceptibility to late-onset disease, and that these four genes account for less than 30% of the genetic variance. It summarizes genetic knowledge but does not report a treatment, cure, or prevention.
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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 (Neuron) |
| Journal's citation record | 4 / 4 | Neuron: journal h-index 689 (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 | 2001 — 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 464 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 17.2 citations a year over 27 year(s) since 2001 |
| Impact for its field and year | 5 / 6 | Cited 25.8× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 14 other studies in this library |
| Still being cited | 1 / 4 | Cited 9 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Lars Bertram: h-index 77 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | Harvard University: institution h-index 3,235 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 11683989) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 50 / 100 | — |
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