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Early onset AD

Three genes have been identified that contain mutations that lead to early-onset Alzheimer's disease (EOAD). These genes were identified in families where this form of the disease segregated as an autosomal dominant trait with generally 100% penetrance. Linkage analyses of these families demonstrated that AD could arise from mutations in the amyloid precursor protein gene (APP) or in the presenilin genes, presenilin 1 (PS1) and presenilin 2 (PS2) (Presenilin mutations). However, there are families with early-onset Alzheimer's disease that do not show linkage with any of these loci, indicating the potential to identify further loci of interest.

Early-onset Alzheimer's disease accounts for only a small proportion of total AD cases (<0.1%), with the majority classed as sporadic late onset AD.

Role of APP

Role of the presenilins

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Early onset AD