Alzheimer disease (AD) is a neurodegenerative disorder of the elderly characterized clinically by progressive dementia, and pathologically by neuronal loss in the cerebral cortex accompanied by massive accumulations of two types of abnormal fibrous proteins i.e., amyloid ß protein as amyloid deposits and hyperphosphorylated tau forming paired helical filaments.
An early onset and a late onset form can be differentiated. The latter one is more common.
The molecular test can help to provide an early diagnosis and in this connection it can eanble an early therapy that is more effective than in lateer state of the disease.
The fact that Alzheimer disease is geneticaly determined is generally accepted. Many genetic disturbances on different genes have been correlated to the disease. But in none of them the pathogenetic link from gene to disease has been established. The most common mutation causing the disease is the E4-allel of apolipoprotein E. This mutation is most common in late onset form of the disease but it is also frequent in early onset forms. The other mutations associated to the diesease are more rare.
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