Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina.

@article{Morelli1998Presenilin1M,
  title={Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina.},
  author={Laura Maria Morelli and Maria I. Prat and {\'E}mile L{\'e}vy and Carlos A Mangone and Eduardo Miguel Casta{\~n}o},
  journal={Clinical genetics},
  year={1998},
  volume={53 6},
  pages={469-73}
}
Most of the cases of early-onset familial Alzheimer's disease (FAD) are related to missense mutations in the presenilin 1 (PS-1) gene on chromosome 14. Although PS-1 mutations are distributed throughout the entire open reading frame, most mutations are found in transmembrane region II and hydrophilic loop VI encoded by exons 5 and 8, respectively. These two groups of substitutions are associated with an age of onset of 40-43 years for exon 5 and 45-55 years for exon 8, respectively. We have… CONTINUE READING