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Article

[Two kindreds with familial Alzheimer's disease--analysis of the APP717 mutation and the mutated genes for the prion protein].

Nihon Ronen Igakkai zasshi. Japanese journal of geriatrics - 1 Jun 1992

Nagano K, Miki T, Yoshioka K, Katsumi D, Katsuya T, Takeda M, Ikeda M, Tanabe H, Nishimura T, Sakai Y

Abstract excerpt

Numerous Caucasian familial Alzheimer's disease (FAD) pedigrees have been described in the literature, while only 21 Japanese FAD families have been reported to date. Here we report the clinical findings and the result of molecular genetic analysis of 4 patients from two FAD kindreds, OS-2 and OS-3. The proband in OS-2 family has developed loss of recent memory and place disorientation age at 43. A brain CT...

Topics

Adult
Alzheimer Disease
Amyloid beta-Protein Precursor
Codon
Family Health
Female
Genes
Humans
Male
Middle Aged
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

PrPSc Proteins

Prions

Source

Identifiers

PMID: 1356166
DOI: 10.3143/geriatrics.29.509

Genes

APP
GSS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1356166-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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[Two kindreds with familial Alzheimer's disease--analysis of the APP717 mutation and the mutated genes for the prion protein].PMID 1356166Read ↗

[Molecular genetic analysis of sporadic Alzheimer's disease].Semantic proximity Read ↗

[Affected siblings with Alzheimer's disease had missense mutation of codon 717 in amyloid precursor protein gene].Semantic proximity Read ↗

[Mutation analysis of amyloid precursor protein in early-onset familial Alzheimer's disease].Semantic proximity Read ↗

Clinical comparison of Alzheimer's disease in pedigrees with the codon 717 Val-->Ile mutation in the amyloid precursor protein gene.Semantic proximity Read ↗

Amyloid precursor protein mutation causes Alzheimer's disease in a Swedish family.Semantic proximity Read ↗

Early-onset Alzheimer's disease in two Iranian families: a genetic study.Semantic proximity Read ↗

Phenotypical difference of amyloid precursor protein (APP) V717L mutation in Japanese family.Semantic proximity Read ↗

Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene.Semantic proximity Read ↗

[Screening for mutations of the precursor of beta-amyloid protein in early forms of Alzheimer disease. French Study Group of Alzheimer Disease].Semantic proximity Read ↗

The 717Val----Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups.Semantic proximity Read ↗

No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.Semantic proximity Read ↗

APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease.Semantic proximity Read ↗

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