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31/100

✓ Peer-reviewed alzhub usefulness score 31 out of 100. Risk genes beyond APOE

Topic: Amyloid, tau and blood-test diagnosis

Plain-language summary

Genetic linkage studies suggest that Alzheimer's disease (AD) is genetically heterogeneous and that in several early onset families the disease locus is close to the amyloid precursor protein (APP) gene on chromosome 21. Recently, several mutations of APP gene have been described. We screened 100 sporadic and familial cases of early onset AD in order to determine the frequency of two of these mutations, APP 717 Val-->Ile and APP 713 Ala-->Val. The patients included fulfilled NINCDS-ADRDA criteria of probable AD and their age of onset was 60 or lower. Seventy-five cases were sporadic and 25 were familial with at least one first or second degree affected relative. None of our cases presented the mutations. Combined results allow to presume that the APP 717 Val-->Ile mutation accounts for less than 0.8% of all early onset AD, and 3.8 +/- 2.8% of familial cases. While the pathogenic effect of the APP 717 Val-->Ile mutation is established, this is not the case for the APP 713 Ala-->Val mutation. Searching for the APP 717 mutations in early-onset AD is fully justified, taking into account its consequences for genetic counselling.

What this study adds

Evidence grade: Low

This is a trial. French researchers screened 100 people with early-onset Alzheimer's, seventy-five sporadic and 25 familial, for two mutations in the amyloid precursor protein gene, APP 717 Val-->Ile and APP 713 Ala-->Val. Reported effect size: 0.8%; 2.8%.

Taken from this record’s own fields, not from reading the paper. The grade is assigned from the abstract’s wording; what that means.

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

APA 7th

[Screening for mutations of the precursor of beta-amyloid protein in early forms of Alzheimer disease. French Study Group of Alzheimer Disease]. (1993). Revue neurologique.

Vancouver

[Screening for mutations of the precursor of beta-amyloid protein in early forms of Alzheimer disease. French Study Group of Alzheimer Disease]. Revue neurologique. 1993. PMID: 8023065.

BibTeX

@article{study1993-8023065,
  title   = {{[Screening for mutations of the precursor of beta-amyloid protein in early forms of Alzheimer disease. French Study Group of Alzheimer Disease]}},
  journal = {Revue neurologique},
  year    = {1993},
  pmid    = {8023065}
}

Built from the record alzhub holds for this paper, not looked up. This record has no authors, DOI, so the citation leaves them out. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.

How to read this study

Design: this is a trial. Participants are assigned to a treatment or a comparison, so the key questions are who was enrolled, whether the comparison group got a placebo or nothing, how long people were followed, and whether the result is on a measure that matters to patients or on a biomarker. Open-label and small trials can overstate benefit.
Size: the record gives no participant count. Look for one in the original before trusting a pattern.
Effect: the record reports “0.8%; 2.8%”. A statistically significant result can still be small in daily life.

What the evidence grade means here

This page is graded low. alzhub.org assigns the grade automatically from keywords in the abstract, not from reading the paper. Low means the abstract matched neither pattern. It is the default label, and it does not mean the work is poor; many sound lab and imaging papers land here. 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

Genetic linkage studies suggest that Alzheimer's disease (AD) is genetically heterogeneous and that in several early onset families the disease locus is close to the amyloid precursor protein (APP) gene on chromosome 21.
Combined results allow to presume that the APP 717 Val-->Ile mutation accounts for less than 0.8% of all early onset AD, and 3.8 +/- 2.8% of familial cases.

Why it matters

French researchers screened 100 people with early-onset Alzheimer's, seventy-five sporadic and 25 familial, for two mutations in the amyloid precursor protein gene, APP 717 Val-->Ile and APP 713 Ala-->Val. None of the patients carried either mutation, and combined data suggested the 717 mutation accounts for less than 0.8% of early-onset cases. The authors still consider testing for it justified because of its importance for genetic counselling.

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

Study details

Study designclinical trial
Effect size0.8%; 2.8%
Evidence strengthLow

How this study scored 31/100

Published in a peer-reviewed journal. Scored zero for study design, sample size and randomized / blinded because the record does not state it. We have no data on journal's citation record, senior author's track record and institution's track record, so those were left out: it earned 28 of the 89 points we could judge it on, which is 31 out of 100.

Component	Points	Why
Journal tier	7 / 10	Tier 3 — peer-reviewed journal (Revue neurologique)
Journal's citation record	— / 4	No journal record from OpenAlex — left out of this score
Study design	0 / 12	Design recorded as “clinical trial”, which our rubric does not rank (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	1993 — older than 20 years, still counted
Sample size	0 / 4	Participant count not stated — scores zero (not stated in the record — scored 0)
Effect reported	2 / 3	Effect reported as a number, without an interval or test
Studied in people	3 / 3	Studied in people (pubmed indexes it as a clinical or observational study)
Randomized / blinded	0 / 2	No randomization or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	0 / 7	Cited 0 times (OpenAlex, 2026-10-10)
Citations per year	0 / 5	0.0 citations a year over 35 year(s) since 1993
Impact for its field and year	0 / 6	Cited 0.0× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	0 / 6	No other study in this library cites it
Still being cited	0 / 4	Cited 0 times in 2024–2026 (2026 still in progress; OpenAlex)
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
Multicenter collaboration	2 / 3	PubMed indexes it as a multicentre study
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 8023065)
Free to read	0 / 2	Behind a paywall — scores zero
Points	28 / 89	Scored on 17 of 20 parts. We have no data for the rest, so they are left out: 28 of the 89 points we could judge it on is 31 out of 100.
Total	31 / 100	—

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