Evidence map›Paper›PMID 40149496›Full record

ArticleGenes2025

Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.

Prevathe Poniah, Aswir Abdul Rashed, Julaina Abdul Jalil, Ernie Zuraida Ali

Abstract readScoping Review
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Prevathe PoniahInborn Errors of Metabolism and Genetics Unit, Nutrition, Metabolic and Cardiovascular Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, Setia Alam 41700, Selangor, Malaysia.
Aswir Abdul RashedNutrition Unit, Nutrition, Metabolic and Cardiovascular Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, Shah Alam 41700, Selangor, Malaysia.ORCID 0000-0002-2380-8171
Julaina Abdul JalilInborn Errors of Metabolism and Genetics Unit, Nutrition, Metabolic and Cardiovascular Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, Setia Alam 41700, Selangor, Malaysia.ORCID 0009-0009-7542-2922
Ernie Zuraida AliInborn Errors of Metabolism and Genetics Unit, Nutrition, Metabolic and Cardiovascular Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, Setia Alam 41700, Selangor, Malaysia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectivesBackground: Early-onset Alzheimer's disease (EOAD) is primarily inherited in an autosomal dominant pattern, with mutations in the

methodsFollowing the PRISMA-ScR guidelines, a systematic database search was conducted for studies published between 2016 and 2023. After screening 491 records, 36 studies from Asian cohorts and 40 from Western cohorts met the inclusion criteria.

resultsThe analysis revealed 127 unique mutations in the Asian population and 190 in the Western population. About 16.7% of Asian and 21.9% of Western studies covered both familial and sporadic AD, with consistent patterns across groups. Some mutations were shared between the populations and displayed similar clinical features, while others were population-specific.

conclusionsThese findings underscore the considerable variability in EOAD mutations and phenotypes, emphasizing the importance of genetic testing in younger patients to enhance diagnostic accuracy and guide treatment strategies effectively.

Indexed as

Alzheimer DiseaseAmyloid beta-Protein PrecursorAsian PeopleMutationPresenilin-1Presenilin-2Age of OnsetClinical RelevanceHumansWhite PeopleAmyloid beta-Protein PrecursorAPP protein, humanPresenilin-1Presenilin-2PSEN1 protein, humanPSEN2 protein, humanAPPclinicalearly-onset Alzheimer’s diseasemutationPSEN1PSEN2

Identifiers

PMID40149496
PMCPMC11942072

What Socratic holds

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LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.