Genetic Variability and Alzheimer’s Disease

Molecular genetic analyses of pedigrees multiply affected by Alzheimer’s disease (AD) have revealed that some cases of the disease are caused by mutations in the β-amyloid precursor protein (APP) gene and others are caused by a lesion on chromosome 14. In this chapter we shall discuss the nature of genetic variants in APP and their biochemical and clinical phenotypes, and progress towards identifying the chromosome 14 lesion.