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Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2
Jayadev S, Leverenz JB, Steinbart E, Stahl J, Klunk W, Yu CE, Bird TD.. Brain : a journal of neurology, 2010-04-01
Topic: Amyloid, tau and blood-test diagnosis
Mutations in presenilin 2 are rare causes of early onset familial Alzheimer's disease. Eighteen presenilin 2 mutations have been reported, although not all have been confirmed pathogenic. Much remains to be learned about the range of phenotypes associated with these mutations.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Jayadev, S., Leverenz, J. B., Steinbart, E., Stahl, J., Klunk, W., Yu, C. E., et al. (2010). Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. Brain : a journal of neurology. https://doi.org/10.1093/brain/awq033
Vancouver
Jayadev S, Leverenz JB, Steinbart E, Stahl J, Klunk W, Yu CE, et al. Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. Brain : a journal of neurology. 2010. doi:10.1093/brain/awq033. PMID: 20375137.
BibTeX
@article{jayadev2010-20375137,
author = {Jayadev, S. and Leverenz, J. B. and Steinbart, E. and Stahl, J. and Klunk, W. and Yu, C. E. and Bird, T. D.},
title = {{Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2}},
journal = {Brain : a journal of neurology},
year = {2010},
doi = {10.1093/brain/awq033},
pmid = {20375137},
url = {https://doi.org/10.1093/brain/awq033}
}
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 names 7 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.
Key findings
- Eighteen presenilin 2 mutations have been reported, although not all have been confirmed pathogenic.
- Much remains to be learned about the range of phenotypes associated with these mutations.
- We have analysed our unique collection of 146 affected cases in 11 Volga German families, 101 who are likely to have the same N141I mutation in presenilin 2 (54 genotyped confirmed).
- We have also assessed the detailed neuropathologic findings in 18 autopsies from these families and reviewed the world's literature on other presenilin 2 mutations; presenting a novel mutation that is predicted to lead to a premature truncation codon.
Why it matters
This analysis of 146 affected cases in 11 Volga German families, plus 18 autopsies, examined the phenotypes and genotypes associated with presenilin 2 mutations, including the N141I mutation. It describes a rare inherited form of early onset familial Alzheimer's disease and does not report a treatment or cure.
Study details
- Participants64
- Evidence strengthLow
How this study scored 55/100
Published in a leading specialty journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Brain : a journal of neurology) |
| Journal's citation record | 4 / 4 | Brain: journal h-index 503 (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 | 1 / 4 | 64 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) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 5 / 7 | Cited 250 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 13.9 citations a year over 18 year(s) since 2010 |
| Impact for its field and year | 4 / 6 | Cited 9.0× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 15 other studies in this library |
| Still being cited | 2 / 4 | Cited 37 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Thomas D. Bird: h-index 89 (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 3 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 20375137) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 55 / 100 | — |
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