Revisión

Genes in Alzheimer’s disease

J. Hoenicka [REV NEUROL 2006;42:302-305] PMID: 16538594 DOI: https://doi.org/10.33588/rn.4205.2005486

OPEN ACCESS

Volumen 42 | Number 05 | Nº of views of the article 14.762 | Nº of PDF downloads 1.674 | Article publication date 01/03/2006

Download PDF Castellano Citation Search in PubMed

Share in:

Go to another issue

ABSTRACT

INTRODUCTION Alzheimer’s disease (AD) is the most frequent degenerative dementia among the elderly population. Families that have an autosomal dominant pattern for AD constitute about 13% of early cases (£ 65 years) and less than 0.01% of the total number of patients. DEVELOPMENT. Molecular analysis of families with early onset AD has made it possible to identify mutations in three different genes that are responsible for the disease: the gene encoding for the amyloid precursor protein peptide (APP), and the presenilin 1 (PSEN1) and presenilin 2 (PSEN2) genes. Yet, these genes are involved in less than 5% of the total number of cases of AD. The remaining AD patients are mostly cases of late or familial onset, where the disease appears as a result of a complex interaction among environmental factors and individual predisposing genetic traits. A large number of molecular genetics studies have clearly implicated the APOE ε4 allele as a proven risk factor for the late form of AD in almost all the populations that have been studied.

CONCLUSIONS Although the APOE ε4 allele is the only proven genetic risk factor for the late form of the disease, genetic epidemiological studies suggest that other loci are also involved. KeywordsAmyloid precursor protein peptide Genetics Presenilin 2 CategoriesDemencia Neurodegeneración

FULL TEXT (solo disponible en lengua castellana / Only available in Spanish)

Acceso directo al último número

Último Podcast

Revisión

Genes in Alzheimer’s disease