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Autosomal recessive causes likely in early-onset Alzheimer disease
Wingo TS, Lah JJ, Levey AI, Cutler DJ.. Archives of neurology, 2011-09-12
Topic: Amyloid, tau and blood-test diagnosis
Plain-language summary
Objectives To determine the genetic contribution to non-autosomal dominant early-onset Alzheimer disease (EOAD) (onset age ≤60 years) cases and identify the likely mechanism of inheritance in those cases. Design A liability threshold model of disease was used to estimate heritability of EOAD and late-onset Alzheimer disease (AD) using concordance for AD among parent-offspring pairs. Setting The Uniform Data Set, whose participants were collected from 32 US Alzheimer's Disease Centers, maintained by the National Alzheimer's Coordinating Center.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Wingo, T. S., Lah, J. J., Levey, A. I., & Cutler, D. J. (2012). Autosomal recessive causes likely in early-onset Alzheimer disease. Archives of neurology. https://doi.org/10.1001/archneurol.2011.221
Vancouver
Wingo TS, Lah JJ, Levey AI, Cutler DJ. Autosomal recessive causes likely in early-onset Alzheimer disease. Archives of neurology. 2012. doi:10.1001/archneurol.2011.221. PMID: 21911656.
BibTeX
@article{wingo2012-21911656,
author = {Wingo, T. S. and Lah, J. J. and Levey, A. I. and Cutler, D. J.},
title = {{Autosomal recessive causes likely in early-onset Alzheimer disease}},
journal = {Archives of neurology},
year = {2012},
doi = {10.1001/archneurol.2011.221},
pmid = {21911656},
url = {https://doi.org/10.1001/archneurol.2011.221}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
Key findings
- Design A liability threshold model of disease was used to estimate heritability of EOAD and late-onset Alzheimer disease (AD) using concordance for AD among parent-offspring pairs.
- Setting The Uniform Data Set, whose participants were collected from 32 US Alzheimer's Disease Centers, maintained by the National Alzheimer's Coordinating Center.
- Participants Individuals with probable AD and detailed parental history (n = 5370).
- Main outcome measures The concordance among relatives and heritability of EOAD and late-onset AD.
Why it matters
Using a liability threshold model in 5,370 people with probable Alzheimer's disease and parental history, this study estimated heritability and found autosomal recessive causes likely in early-onset cases. It is about inheritance patterns and offers no treatment, cure or prevention.
Study details
- Participants5,370
- Effect size69.8%; 64.6%; 75.0%
- Evidence strengthLow
How this study scored 54/100
Published in a peer-reviewed journal. Scored zero for study design and randomized / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Archives of neurology) |
| Journal's citation record | 3 / 4 | Archives of Neurology: journal h-index 353 (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 | 2012 — within 20 year(s) of the newest study here |
| Sample size | 3 / 4 | 5,370 participants |
| Effect reported | 2 / 3 | Effect reported as a number, without an interval or test |
| 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 | 5 / 7 | Cited 265 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 16.6 citations a year over 16 year(s) since 2012 |
| Impact for its field and year | 3 / 6 | Cited 3.7× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 13 other studies in this library |
| Still being cited | 3 / 4 | Cited 71 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Thomas S. Wingo: h-index 51 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Emory University: institution h-index 1,360 (OpenAlex) |
| Multicenter collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 21911656) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 54 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1001/archneurol.2011.221
- PubMed: 21911656
- 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).
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