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55/100

✓ Peer-reviewed alzhub usefulness score 55 out of 100. Risk genes beyond APOE

Topic: Amyloid, tau and blood-test diagnosis

Autosomal-dominant Alzheimer disease (ADAD) is a genetic disorder caused by mutations in Amyloid Precursor Protein (APP) or Presenilin (PSEN) genes. Studies from families with ADAD have been critical to support the amyloid cascade hypothesis of Alzheimer disease (AD), the basis for the current development of amyloid-based disease-modifying therapies in sporadic AD (SAD). However, whether the pathological changes in APP processing in the CNS in ADAD are similar to those observed in SAD remains unclear.

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APA 7th

Pera, M., Alcolea, D., Sánchez-Valle, R., Guardia-Laguarta, C., Colom-Cadena, M., Badiola, N., et al. (2013). Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease. Acta neuropathologica. https://doi.org/10.1007/s00401-012-1062-9

Vancouver

Pera M, Alcolea D, Sánchez-Valle R, Guardia-Laguarta C, Colom-Cadena M, Badiola N, et al. Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease. Acta neuropathologica. 2013. doi:10.1007/s00401-012-1062-9. PMID: 23224319.

BibTeX

@article{pera2013-23224319,
  author  = {Pera, M. and Alcolea, D. and Sánchez-Valle, R. and Guardia-Laguarta, C. and Colom-Cadena, M. and Badiola, N. and Suárez-Calvet, M. and Lladó, A. and others},
  title   = {{Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease}},
  journal = {Acta neuropathologica},
  year    = {2013},
  doi     = {10.1007/s00401-012-1062-9},
  pmid    = {23224319},
  url     = {https://doi.org/10.1007/s00401-012-1062-9}
}

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Key findings

Studies from families with ADAD have been critical to support the amyloid cascade hypothesis of Alzheimer disease (AD), the basis for the current development of amyloid-based disease-modifying therapies in sporadic AD (SAD).
However, whether the pathological changes in APP processing in the CNS in ADAD are similar to those observed in SAD remains unclear.
In this study, we measured β-site APP-cleaving enzyme (BACE) protein levels and activity, APP and APP C-terminal fragments in brain samples from subjects with ADAD carrying APP or PSEN1 mutations (n = 18), patients with SAD (n = 27) and age-matched controls (n = 22).
We also measured sAPPβ and BACE protein levels, as well as BACE activity, in CSF from individuals carrying PSEN1 mutations (10 mutation carriers and 7 non-carrier controls), patients with SAD (n = 32) and age-matched controls (n = 11).

Why it matters

This study compared APP processing in the brain between autosomal-dominant and sporadic Alzheimer's disease and found distinct patterns. It is a brain tissue study and does not report any treatment, cure, or prevention for Alzheimer's disease.

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Study details

Participants18
Evidence strengthLow

How this study scored 55/100

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

Component	Points	Why
Journal tier	9 / 10	Tier 2 — leading specialty journal (Acta neuropathologica)
Journal's citation record	3 / 4	Acta Neuropathologica: journal h-index 287 (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	2013 — within 20 year(s) of the newest study here
Sample size	1 / 4	18 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 122 times (OpenAlex, 2026-10-10)
Citations per year	3 / 5	8.1 citations a year over 15 year(s) since 2013
Impact for its field and year	3 / 6	Cited 4.2× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	3 / 6	Cited by 14 other studies in this library
Still being cited	2 / 4	Cited 15 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	3 / 4	Last-listed author Alberto Lleó: h-index 92 (OpenAlex, whole career)
Institution's track record	1 / 3	Universitat de Barcelona: institution h-index 1,049 (OpenAlex)
Multi-centre collaboration	3 / 3	OpenAlex lists 11 institution(s) in 3 countries
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 23224319)
Free to read	2 / 2	Free to read
Total	55 / 100	—

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