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The genetics of Alzheimer's disease

BMJ 1998; 317 doi: (Published 08 August 1998) Cite this as: BMJ 1998;317:361

The number of genetic risk factors associated with this disorder is increasing steadily

  1. Jim Edwardson, Director,
  2. Chris Morris, MRC scientist
  1. MRC Neurochemical Pathology Unit, Newcastle General Hospital, Newcastle upon Tyne NE4 6BE

    The genetics of Alzheimer's disease is proving to be complex and controversial. Nature Genetics this month contains a paper from Tanzi's group in Boston suggesting that a common polymorphism of α2macroglobulin is associated with a major increase in the risk of developing late onset Alzheimer's disease.1 The data generated heated debate at the sixth international conference on Alzheimer's disease held in Amsterdam at the end of July. At least 70 other reports on the genetics of Alzheimer's disease were presented, implicating over a dozen other genes or genetic loci.2 So what is our current state of knowledge?

    Missense mutations in three genes are known to cause autosomal dominant forms of early onset Alzheimer's disease: these are the amyloid precursor protein gene located on chromosome 213 and genes for presenilin 1 and presenilin 2 located on chromosomes 14 and 1, respectively. 4 5Studies on these missense mutations have given strong support to the “amyloid cascade hypothesis” of Alzheimer's disease.6 The amyloid precursor protein …

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