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47/100

✓ Peer-reviewed alzhub usefulness score 47 out of 100. Risk genes beyond APOE

Topic: Amyloid, tau and blood-test diagnosis

Clinical differential diagnosis of early-onset dementia (EOD) includes familial Alzheimer disease (FAD) and hereditary prion disease. In both disease entities, postmortem brain histopathological examination is essential for unambiguous diagnosis. Mutations in the genes encoding the presenilins (PS1 and PS2) and amyloid precursor protein (APP) are associated with FAD, whereas mutations in the prion protein (PrP) gene are associated with prion disease.

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APA 7th

Finckh, U., Müller-Thomsen, T., Mann, U., Eggers, C., Marksteiner, J., Meins, W., et al. (2000). High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. American journal of human genetics. https://doi.org/10.1086/302702

Vancouver

Finckh U, Müller-Thomsen T, Mann U, Eggers C, Marksteiner J, Meins W, et al. High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. American journal of human genetics. 2000. doi:10.1086/302702. PMID: 10631141.

BibTeX

@article{finckh2000-10631141,
  author  = {Finckh, U. and Müller-Thomsen, T. and Mann, U. and Eggers, C. and Marksteiner, J. and Meins, W. and Binetti, G. and Alberici, A. and others},
  title   = {{High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes}},
  journal = {American journal of human genetics},
  year    = {2000},
  doi     = {10.1086/302702},
  pmid    = {10631141},
  url     = {https://doi.org/10.1086/302702}
}

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Key findings

In both disease entities, postmortem brain histopathological examination is essential for unambiguous diagnosis.
Mutations in the genes encoding the presenilins (PS1 and PS2) and amyloid precursor protein (APP) are associated with FAD, whereas mutations in the prion protein (PrP) gene are associated with prion disease.
To investigate the proportion of EOD attributable to known genes, we prospectively (i.e., antemortem) screened these four genes for mutations by sequencing genomic PCR products from patients with EOD before age 60 years.
Family history for dementia was positive (PFH) in 16 patients, negative (NFH) in 17 patients, and unknown (UFH) in 3 patients.

Why it matters

Screening four genes in patients with early-onset dementia found a high prevalence of pathogenic mutations in presenilin, amyloid precursor protein, and prion protein genes. This is a diagnostic and genetic finding and does not provide a treatment, cure, or prevention for Alzheimer's disease.

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Study details

Participants16
Evidence strengthLow

How this study scored 47/100

Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it.

Component	Points	Why
Journal tier	7 / 10	Tier 3 — peer-reviewed journal (American journal of human genetics)
Journal's citation record	3 / 4	The American Journal of Human Genetics: journal h-index 385 (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	2000 — older than 20 years, still counted
Sample size	1 / 4	16 participants
Effect reported	0 / 3	No effect size reported — scores zero (not stated in the record — scored 0)
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	5 / 7	Cited 194 times (OpenAlex, 2026-10-10)
Citations per year	2 / 5	6.9 citations a year over 28 year(s) since 2000
Impact for its field and year	3 / 6	Cited 7.0× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	2 / 6	Cited by 9 other studies in this library
Still being cited	1 / 4	Cited 12 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	3 / 4	Last-listed author Andreas Gal: h-index 70 (OpenAlex, whole career)
Institution's track record	1 / 3	University of Zurich: institution h-index 1,220 (OpenAlex)
Multi-centre collaboration	2 / 3	OpenAlex lists 6 institution(s) in 4 countries
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 10631141)
Free to read	0 / 2	Behind a paywall — scores zero
Total	47 / 100	—

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