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Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.

Neurobiology of aging - 1 Aug 2012

Lohmann Ebba, Guerreiro Rita J, Erginel-Unaltuna Nihan, Gurunlian Nicole, Bilgic Basar, Gurvit Hakan, Hanagasi Hasmet A, Luu Nga, Emre Murat, Singleton Andrew

Abstract excerpt

In order to assess the frequency of mutations in the known Alzheimer's disease causative genes in Turkish dementia patients we screened amyloid precursor protein (APP), PSEN1 and PSEN2 for mutations in a cohort of 98 Turkish dementia families. Six families were found to carry PSEN1 mutations (p.H163R, p.P264L, and p.H214Y) or variants suggested to cause the disease (p.L134R, p.L262V, and p.A396T). In 4 other...

Topics

Aged
Dementia
Female
Genetic Markers
Genetic Predisposition to Disease
Genetic Variation
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide
Presenilin-1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prevalence

Risk Factors

Turkey

Source

Open in PubMed Open full text

Identifiers

PMID: 22503161
DOI: 10.1016/j.neurobiolaging.2012.02.020
PMCID: PMC4669567

Genes

PSEN1
PSEN2
APP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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