The Alzheimer Research Forum maintains lists of mutations that have been reported
in amyloid-b precursor protein (AbPP),
presenilin-1 (PS1) and presenilin-2 (PS2), the three known genetic causes of autosomal
dominant, familial Alzheimer disease. We have also compiled a list of mutations
in the tau gene that cause inherited frontotemporal dementia with Parkinsonism (FTDP).
This disorder is characterized by paired helical filaments of tau protein, a lesion
that is also a classic hallmark of Alzheimer disease.
Our goal is to provide a central publication forum for quickly reporting and updating
data on all known mutations. Findings are organized into tables designed to facilitate
comparisons of the phenotypes associated with each mutation. We strive to keep these
lists up to date and to improve constantly on our format and editorial annotation.
In addition to screening the published literature, we depend on investigators to
notify us of updates, corrections and to tell us what we can do to support their
work. These compendia are collaborative endeavors involving many scientists, all
of whom will be publicly credited for their contributions.
If you would like to be involved, please
contact us.
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