chapter  8
12 Pages

Genetics of Dementia

ByAnne L. Brunkan, Alison M. Goate

Recognition that genes play an important role in determining risk for Alzheimer’s disease (AD) in

the majority of cases is a recent phenomenon and is the direct result of molecular genetic studies

during the last two decades. We now know that AD is a complex disease with multiple causes,

although the underlying mechanism may be similar in all cases. Early-onset familial AD (FAD) is

linked to specific rare, highly penetrant mutations (1). In contrast, risk for late-onset AD is likely the

result of a combination of genetic and environmental risk factors. Interactions between AD genes

and the environment are still poorly defined. However, studies from the past 10-15 years have

given many insights into genes that play a role in AD and have produced models of the underlying

molecular interactions that lead to disease.