Home › Research › Risk genes beyond APOE
Pathogenic variants in the Longitudinal Early-onset Alzheimer's Disease Study cohort
Kelly N H Nudelman, Trever Jackson, Malia Rumbaugh, Ani Eloyan, Marco Abreu, Jeffrey L Dage, Casey Snoddy, Kelley M Faber et al.. Alzheimer's & dementia : the journal of the Alzheimer's Association, 2023-10-06
Topic: Genetics and APOE
Previously reported pathogenic variants in the six genes were identified in 1.35% of EOAD (3/223) and 6.58% of EOnonAD (5/76). No genes showed enrichment for carriers of rare functional variants in LEADS cases. Results suggest that LEADS is enriched for novel genetic causative variants, as previously reported variants are not observed in most cases. HIGHLIGHTS: Sequencing identified eight cognitively impaired pathogenic variant carriers. Pathogenic variants were identified in PSEN1, GRN, MAPT, and C9ORF72. Rare variants were not enriched in APP, PSEN1/2, GRN, and MAPT. The Longitudinal Early-onset Alzheimer's Disease Study (LEADS) is a key resource for early-onset Alzheimer's genetic research.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Nudelman, K. N. H., Jackson, T., Rumbaugh, M., Eloyan, A., Abreu, M., Dage, J. L., et al. (2023). Pathogenic variants in the Longitudinal Early-onset Alzheimer's Disease Study cohort. Alzheimer's & dementia : the journal of the Alzheimer's Association. https://doi.org/10.1002/alz.13482
Vancouver
Nudelman KNH, Jackson T, Rumbaugh M, Eloyan A, Abreu M, Dage JL, et al. Pathogenic variants in the Longitudinal Early-onset Alzheimer's Disease Study cohort. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2023. doi:10.1002/alz.13482. PMID: 37801072.
BibTeX
@article{nudelman2023-37801072,
author = {Nudelman, Kelly N H and Jackson, Trever and Rumbaugh, Malia and Eloyan, Ani and Abreu, Marco and Dage, Jeffrey L and Snoddy, Casey and Faber, Kelley M and others},
title = {{Pathogenic variants in the Longitudinal Early-onset Alzheimer's Disease Study cohort}},
journal = {Alzheimer's \& dementia : the journal of the Alzheimer's Association},
year = {2023},
doi = {10.1002/alz.13482},
pmid = {37801072},
url = {https://doi.org/10.1002/alz.13482}
}
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
- Previously reported pathogenic variants in the six genes were identified in 1.35% of EOAD (3/223) and 6.58% of EOnonAD (5/76).
- No genes showed enrichment for carriers of rare functional variants in LEADS cases.
- Results suggest that LEADS is enriched for novel genetic causative variants, as previously reported variants are not observed in most cases.
- HIGHLIGHTS: Sequencing identified eight cognitively impaired pathogenic variant carriers.
- Pathogenic variants were identified in PSEN1, GRN, MAPT, and C9ORF72.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Study designlongitudinal study
- Participants299
- Effect size1.35%; 6.58%
- Evidence strengthModerate
How this study scored 73/100
Published in a leading specialty journal, and it is a longitudinal study following the same people over time. Scored zero for 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 41 of the 56 points we could judge it on, which is 73 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Alzheimer's & dementia : the journal of the Alzheimer's Association) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| Study design | 7 / 12 | A longitudinal study following the same people over time |
| Strength of evidence | 3 / 5 | Rated “moderate” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 3 / 5 | 2023 — within 6 year(s) of the newest study here |
| Sample size | 2 / 4 | 299 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) |
| 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 37801072) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 41 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 41 of the 56 points we could judge it on is 73 out of 100. |
| Total | 73 / 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 “genetics”
346 studies in the library carry the topic tag “genetics”; these are this study's neighbours in a fixed, alphabetical-by-hash tour of them, not the closest in content. All 346 tagged studies.