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    Cell Mol Neurobiol. 1999 Feb;19(1):19-30.

    Is there a genetic basis for the deposition of beta-amyloid after fatal head injury?

    Graham DI, Gentleman SM, Nicoll JA, Royston MC, McKenzie JE, Roberts GW, Mrak RE, Griffin WS.

    Department of Neuropathology, University of Glasgow, Scotland, U.K.

    1. Alzheimer's disease is a heterogeneous disorder that may be caused by genetic or environmental factors or by a combination of both. Abnormalities in chromosomes 1, 14, and 21 have all been implicated in the pathogenesis of the early-onset form of the disease, while the epsilon 4 allele of the apolipoprotein E gene (on chromosome 19) is now recognized as a risk factor for early- and late-onset sporadic and familial Alzheimer's disease. 2. The best-established environmental trigger for the disease is a head injury, based on epidemiological and neuropathological evidence. Approximately 30% of patients who die after a single episode of severe head injury show intracerebral deposition of beta-amyloid protein (A beta), a protein that is thought to be central to the pathogenesis of Alzheimer's disease. 3. Recent studies have revealed an over-representation of the apoE epsilon 4 allele in those head-injured patients displaying A beta pathology, thus providing the first evidence for a link between a genetic susceptibility (apoE epsilon 4) and an environmental trigger (head injury) in the development of Alzheimer-type pathology.

    PMID: 10079962 [PubMed - indexed for MEDLINE]

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