New Insights Into Genetics and Pathophysiology of Alzheimer's Disease: What Are the Clinical and Therapeutic Implications?

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Genetic findings have made an important contribution to the understanding of Alzheimer’s disease. The mutations in β-amyloid precursor protein (βAPP) and presenilin 1 (PS1) transmitted in a simple Mendelian manner have provided the basis for our understanding of the central role of β-amyloid in all cases of Alzheimer’s . Dr. Mullan suggested that whereas variability at the apolipoprotein E (APOE) locus is clearly associated with the occurrence of disease, for many other genes such clarity is less established.