Alzheimer Hastalarında Psen1 Geni Mutasyon Taraması ve Apoe Genotiplendirmesi

Abstract

Dementia means that the increasing losses of anamnesis, thinking and judgment skills with the passing of time. Alzheimer s Disease (AD) which is the most common dementia reason in elderly population, is a neurodegenerative disease and mostly appears as a combination of genetic and environmental factors. Early onset familial Alzheimer s Disease (EOAD) is rare and shows autosomal dominant Mendelian inheritance. The most common form of Alzheimer s Disease is late onset sporadic Alzheimer s Disease (LOAD) which is multifactorial, so it is more complex.The presence of missense mutations in PSEN1 gene is responsible for agressive progression of early onset familial Alzheimer s Disease. It is not clear that the role of PSEN1 on the most of LOAD case except the contributions to familial EOAD.