The present invention relates generally to the field of neurological and physiological dysfunctions associated with Alzheimer's disease (AD). More particularly, the invention concerns the use of a variant in the preseniline-1 (PSEN1) regulatory region to determine in a human cell or tissue obtainable from a human being whether said human being has or is at risk for developing early-onset AD or AD. The present invention also relates to methods to screen for molecules that inhibit the reduction of PSEN-1 levels associated with polymorphisms in the PSEN-1 promoter region and molecules obtained via said methods.
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