Home › Research › Risk genes beyond APOE
Early-onset familial Alzheimer's disease (EOFAD)
Liyong Wu, Pedro Rosa-Neto, Ging-Yuek R Hsiung, A Dessa Sadovnick, Mario Masellis, Sandra E Black, Jianping Jia, Serge Gauthier. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 2012-07
Topic: Genetics and APOE
Early-onset familial Alzheimer's disease (EOFAD) is a condition characterized by early onset dementia (age at onset < 65 years) and a positive family history for dementia. To date, 230 mutations in presenilin (PS1, PS2) and amyloid precursor protein (APP) genes have been identified in EOFAD. The mutations within these three genes (PS1/PS2/APP) affect a common pathogenic pathway in APP synthesis and proteolysis, which lead to excessive production of amyloid β. Compared with sporadic Alzheimer's disease (AD), EOFAD has some distinctive features including early age at onset, positive familial history, a variety of non-cognitive neurological symptoms and signs, and a more aggressive course. There is marked phenotypic heterogeneity among different mutations of EOFAD. Studies in presymptomatic mutation carriers reveal biomarkers abnormalities. EOFAD diagnosis is based on clinical and family history, neurological symptoms and examination, biomarker features, as well as genotyping in some cases. New therapeutic agents targeting amyloid formation may benefit EOFAD individuals.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Wu, L., Rosa-Neto, P., Hsiung, G.-Y. R., Sadovnick, A. D., Masellis, M., Black, S. E., et al. (2012). Early-onset familial Alzheimer's disease (EOFAD). The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. https://doi.org/10.1017/s0317167100013949
Vancouver
Wu L, Rosa-Neto P, Hsiung G.-YR, Sadovnick AD, Masellis M, Black SE, et al. Early-onset familial Alzheimer's disease (EOFAD). The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. 2012. doi:10.1017/s0317167100013949. PMID: 22728850.
BibTeX
@article{wu2012-22728850,
author = {Wu, Liyong and Rosa-Neto, Pedro and Hsiung, Ging-Yuek R and Sadovnick, A Dessa and Masellis, Mario and Black, Sandra E and Jia, Jianping and Gauthier, Serge},
title = {{Early-onset familial Alzheimer's disease (EOFAD)}},
journal = {The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques},
year = {2012},
doi = {10.1017/s0317167100013949},
pmid = {22728850},
url = {https://doi.org/10.1017/s0317167100013949}
}
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 8 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
- Compared with sporadic Alzheimer's disease (AD), EOFAD has some distinctive features including early age at onset, positive familial history, a variety of non-cognitive neurological symptoms and signs, and a more aggressive course.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Evidence strengthLow
How this study scored 38/100
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. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record, multi-centre collaboration and free to read, so those were left out: it earned 21 of the 56 points we could judge it on, which is 38 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| 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 | 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 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 22728850) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 21 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 21 of the 56 points we could judge it on is 38 out of 100. |
| Total | 38 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
Free copy unknown: no free-copy check has an answer for this record yet. That does not mean it is paywalled.
Related studies in Risk genes beyond APOE
Also tagged “presenilin”
343 studies in the library carry the topic tag “presenilin”; these are this study's neighbours in a fixed, alphabetical-by-hash tour of them, not the closest in content. All 343 tagged studies.