. Wide range of disease onset in a family with Alzheimer disease and a His163Tyr mutation in the presenilin-1 gene. Arch Neurol. 1998 May;55(5):698-702. PubMed.


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  1. This is very interesting because of the possible occurrence of an unknown genetical factor which may interfere with the onset of the disease caused by the H163Y mutation of PS-1 at least in this family. The story may come from an analogy of a factor to retard the disease onset in some HIV patients.

  2. This is the first report that even the effects of PS1 mutations on the development of AD may be modified by environmental factors. It may also indicate that a linkage between AD and PS1 mutations may not be as tight as it is now assumed.

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  1. PSEN1 H163Y