Genetics of the dementias

Open Access
Publisher Website
Google Scholar
Abstract
Alzheimer’s disease (AD), the most common cause of dementia, is characterised by the accumulation of neurofibrillary tangles and neuritic amyloid plaques. These histopathological changes lead to progressive cerebral atrophy and cognitive decline. While increasing age is the single greatest risk factor for the development of AD, AD in a first degree relative confers a doubling of the relative risk for an individual. In less than 5% of cases AD is inherited in an autosomal dominant manner with almost complete penetrance. Such autosomal dominant familial AD (FAD) is associated with mutations in three genes: β-amyloid precursor protein (APP) gene, presenilin 1, and presenilin 2. (An up to date list of all known mutations in these three genes is found at http://molgen-www.uia.ac.be/Admutations.) In some patients with FAD a definite mutation may not be found.

This publication has 8 references indexed in Scilit: