Home › Research › Risk genes beyond APOE
Associations between biomarkers and age in the presenilin 1 E280A autosomal dominant Alzheimer disease kindred: a cross-sectional study
Fleisher AS, Chen K, Quiroz YT, Jakimovich LJ, Gutierrez Gomez M, Langois CM, Langbaum JB, Roontiva A et al.. JAMA neurology, 2015-03-01
Topic: Amyloid, tau and blood-test diagnosis
Importance Age-associated changes in brain imaging and fluid biomarkers are characterized and compared in presenilin 1 (PSEN1)E280A mutation carriers and noncarriers from the world's largest known autosomal dominant Alzheimer disease (AD) kindred. Objective To characterize and compare age-associated changes in brain imaging and fluid biomarkers in PSEN1 E280A mutation carriers and noncarriers. Design, setting, and participants Cross-sectional measures of 18F-florbetapir positron emission tomography, 18F-fludeoxyglucose positron emission tomography, structural magnetic resonance imaging, cerebrospinal fluid (CSF), and plasma biomarkers of AD were assessed from 54 PSEN1 E280A kindred members (age range, 20-59 years).
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Fleisher, A. S., Chen, K., Quiroz, Y. T., Jakimovich, L. J., Gutierrez Gomez, M., Langois, C. M., et al. (2015). Associations between biomarkers and age in the presenilin 1 E280A autosomal dominant Alzheimer disease kindred: a cross-sectional study. JAMA neurology. https://doi.org/10.1001/jamaneurol.2014.3314
Vancouver
Fleisher AS, Chen K, Quiroz YT, Jakimovich LJ, Gutierrez Gomez M, Langois CM, et al. Associations between biomarkers and age in the presenilin 1 E280A autosomal dominant Alzheimer disease kindred: a cross-sectional study. JAMA neurology. 2015. doi:10.1001/jamaneurol.2014.3314. PMID: 25580592.
BibTeX
@article{fleisher2015-25580592,
author = {Fleisher, A. S. and Chen, K. and Quiroz, Y. T. and Jakimovich, L. J. and Gutierrez Gomez, M. and Langois, C. M. and Langbaum, J. B. and Roontiva, A. and others},
title = {{Associations between biomarkers and age in the presenilin 1 E280A autosomal dominant Alzheimer disease kindred: a cross-sectional study}},
journal = {JAMA neurology},
year = {2015},
doi = {10.1001/jamaneurol.2014.3314},
pmid = {25580592},
url = {https://doi.org/10.1001/jamaneurol.2014.3314}
}
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
- Objective To characterize and compare age-associated changes in brain imaging and fluid biomarkers in PSEN1 E280A mutation carriers and noncarriers.
- Design, setting, and participants Cross-sectional measures of 18F-florbetapir positron emission tomography, 18F-fludeoxyglucose positron emission tomography, structural magnetic resonance imaging, cerebrospinal fluid (CSF), and plasma biomarkers of AD were assessed from 54 PSEN1 E280A kindred members (age range, 20-59 years).
- Main outcomes and measures We used brain mapping algorithms to compare regional cerebral metabolic rates for glucose and gray matter volumes in cognitively unimpaired mutation carriers and noncarriers.
- We used regression analyses to characterize associations between age and the mean cortical to pontine 18F-florbetapir standard uptake value ratios, precuneus cerebral metabolic rates for glucose, hippocampal gray matter volume, CSF Aβ1-42, total tau and phosphorylated tau181, and plasma Aβ measurements.
Why it matters
In this cross-sectional study of 54 members of a single family with the PSEN1 E280A mutation, researchers compared age-related changes in brain imaging and fluid biomarkers between mutation carriers and noncarriers. Because the study only measured biomarkers at one point in time, it cannot show whether these markers predict or cause later cognitive decline.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Study designcross-sectional
- Evidence strengthLow
How this study scored 56/100
Published in a leading specialty journal, and it is a snapshot of people at one point in time. Scored zero for sample size, effect reported, studied in people and randomized / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (JAMA neurology) |
| Journal's citation record | 2 / 4 | JAMA Neurology: journal h-index 235 (OpenAlex, 2026-10-29) |
| Study design | 4 / 12 | A snapshot of people at one point in time |
| 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 | 2015 — 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) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 5 / 7 | Cited 178 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 13.7 citations a year over 13 year(s) since 2015 |
| Impact for its field and year | 4 / 6 | Cited 14.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 19 other studies in this library |
| Still being cited | 2 / 4 | Cited 33 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Eric M. Reiman: h-index 151 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | Harvard University: institution h-index 3,235 (OpenAlex) |
| Multicenter collaboration | 3 / 3 | OpenAlex lists 11 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 25580592) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 56 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1001/jamaneurol.2014.3314
- PubMed: 25580592
- Original source →
- Free full text: PubMed Central →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Related
Studies in the library that share something with this one. The line above each title says what.
Studies this one cites
Referenced by this study and also in the alzhub library, so you can read them here. Showing 12 of 22.
Later studies that cite this one
19 studies in the alzhub library list this one in their references. Showing the 8 highest-scoring.
Related studies in Risk genes beyond APOE
Also tagged “cerebrospinal”
820 studies in the library carry the topic tag “cerebrospinal”; these are this study's neighbours in a fixed, alphabetical-by-hash tour of them, not the closest in content. All 820 tagged studies.