Segregation of a missense mutation in the amyloid β-protein precursor gene with familial Alzheimer's disease

Abstract excerpt

In 1991 we described a missense mutation in the amyloid beta-protein precursor (AbetaPP) gene in two familial Alzheimer's disease (FAD) kindreds. This gene encodes the amyloid beta peptide deposited in senile plaques in AD. We made four predictions based upon these results: 1. Other FAD kindreds would be identified with AbetaPP mutations; 2. FAD is genetically heterogeneous; 3. Abeta deposition is central to the...

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