F175S change and a novel polymorphism in presenilin-1 gene in late-onset familial Alzheimer's disease.

@article{Colacicco2002F175SCA,
  title={F175S change and a novel polymorphism in presenilin-1 gene in late-onset familial Alzheimer's disease.},
  author={Anna Maria Colacicco and Francesco Panza and Anna Maria Basile and Vincenzo Solfrizzi and Cristiano Capurso and A D'Introno and Francesco Torres and Sabrina A Capurso and Sabino Cozza and Rajinder Flora and Antonio Capurso},
  journal={European neurology},
  year={2002},
  volume={47 4},
  pages={209-13}
}
We analyzed at the molecular level with presenilin-1 (PS-1) and apolipoprotein E (apoE) genotyping the affected subjects and asymptomatic relatives of an Italian family with several members affected by late-onset familial Alzheimer's disease (AD). The screen for PS-1 gene mutations revealed a novel missense substitution phenylalanine 175 to serine in 1 of the affected individuals and 2 asymptomatic sons of the patient. This change was not found in other relatives of this family, as well as in… CONTINUE READING