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lüll Genetic aspects of Alzheimer disease Bird TDGenet Med 2008[Apr]; 10 (4): 231-9Alzheimer disease is the most common cause of dementia and represents a major public health problem. The neuropathologic findings of amyloid-beta plaques and tau containing neurofibrillary tangles represent important molecular clues to the underlying pathogenesis. Genetic factors are well recognized, but complicated. Three rare forms of autosomal-dominant early-onset familial Alzheimer disease have been identified and are associated with mutations in amyloid precursor protein, presenilin 1, and presenilin 2 genes. The more common late-onset form of Alzheimer disease is assumed to be polygenic/multifactorial. However, thus far the only clearly identified genetic risk factor for Alzheimer disease is Apo lipoprotein E. The epsilon4 allele of Apo lipoprotein E influences age at onset of Alzheimer disease, but is neither necessary nor sufficient for the disease. The search continues for the discovery of additional genetic influences.|Alzheimer Disease/diagnosis/*genetics/*pathology/therapy[MESH]|Diagnosis, Differential[MESH]|Genetic Counseling/*methods[MESH]|Genetic Testing/*methods[MESH]|Humans[MESH] |