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56/100

✓ Peer-reviewed alzhub usefulness score 56 out of 100. Risk genes beyond APOE

Topic: Amyloid, tau and blood-test diagnosis

Plain-language summary

Objective To assess seizure frequency in a large French cohort of autosomal dominant early-onset Alzheimer disease (ADEOAD) and to determine possible correlations with causative mutations. Methods A national multicentric study was performed in patients with ADEOAD harboring a pathogenic mutation within PSEN1, PSEN2, APP, or a duplication of APP, and a minimal follow-up of 5 years. Clinical, EEG, and imaging data were systematically recorded.

Cite this study APA, Vancouver, BibTeX · download .bib or .ris

APA 7th

Zarea, A., Charbonnier, C., Rovelet-Lecrux, A., Nicolas, G., Rousseau, S., Borden, A., et al. (2016). Seizures in dominantly inherited Alzheimer disease. Neurology. https://doi.org/10.1212/wnl.0000000000003048

Vancouver

Zarea A, Charbonnier C, Rovelet-Lecrux A, Nicolas G, Rousseau S, Borden A, et al. Seizures in dominantly inherited Alzheimer disease. Neurology. 2016. doi:10.1212/wnl.0000000000003048. PMID: 27466472.

BibTeX

@article{zarea2016-27466472,
  author  = {Zarea, A. and Charbonnier, C. and Rovelet-Lecrux, A. and Nicolas, G. and Rousseau, S. and Borden, A. and Pariente, J. and Le Ber, I. and others},
  title   = {{Seizures in dominantly inherited Alzheimer disease}},
  journal = {Neurology},
  year    = {2016},
  doi     = {10.1212/wnl.0000000000003048},
  pmid    = {27466472},
  url     = {https://doi.org/10.1212/wnl.0000000000003048}
}

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How to read this study

Design: our record does not state a study design, so check the methods section of the original before weighing the result.
Size: the record lists 132 participants. Ask whether that is enough for the question, and who they were.
Effect: the record reports “47.7%; 19.1%; 10.8%”. A statistically significant result can still be small in daily life.

What the evidence grade means here

This page is graded moderate. alzhub.org assigns the grade automatically from keywords in the abstract, not from reading the paper. Moderate means the abstract mentions a cohort, case-control or longitudinal design. It can add at most 5 of the 100 points in the study score, and it is a label about design, not a verdict on whether the findings are true.

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Key findings

Methods A national multicentric study was performed in patients with ADEOAD harboring a pathogenic mutation within PSEN1, PSEN2, APP, or a duplication of APP, and a minimal follow-up of 5 years.
Clinical, EEG, and imaging data were systematically recorded.
Results We included 132 patients from 77 families: 94 PSEN1 mutation carriers (MCs), 16 APP duplication carriers, 15 APP MCs, and 7 PSEN2 MCs.
Seizure frequency was 47.7% after a mean follow-up of 8.4 years (range 5-25).

Why it matters

In a large French cohort of people with dominantly inherited early-onset Alzheimer's disease, seizures occurred in 47.7% of patients after an average follow-up of 8.4 years. This describes how common seizures are in these inherited forms of the disease and does not test any treatment, cure, or prevention.

New to this subject? Start with our plain-English guide: Genetics →

Study details

Participants132
Effect size47.7%; 19.1%; 10.8%
Evidence strengthModerate

How this study scored 56/100

Published in a leading specialty journal. Scored zero for study design and randomized / blinded because the record does not state it.

Component	Points	Why
Journal tier	9 / 10	Tier 2 — leading specialty journal (Neurology)
Journal's citation record	4 / 4	Neurology: journal h-index 525 (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	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	1 / 5	2016 — within 20 year(s) of the newest study here
Sample size	2 / 4	132 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 109 times (OpenAlex, 2026-10-10)
Citations per year	3 / 5	9.1 citations a year over 12 year(s) since 2016
Impact for its field and year	3 / 6	Cited 5.5× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	1 / 6	Cited by 2 other studies in this library
Still being cited	2 / 4	Cited 31 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	2 / 4	Last-listed author Karl Mondon: h-index 24 (OpenAlex, whole career)
Institution's track record	2 / 3	Inserm: institution h-index 1,988 (OpenAlex)
Multicenter collaboration	2 / 3	OpenAlex lists 4 institution(s) in 1 country
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 27466472)
Free to read	0 / 2	Behind a paywall — scores zero
Total	56 / 100	—

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