Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.

@article{Rogaeva2001ScreeningFP,
  title={Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.},
  author={Ekaterina A. Rogaeva and K C Fafel and You - Qiang Song and Helena Medeiros and Christine Sato and Y Liang and Edo Richard and Evgeny I. Rogaev and P Frommelt and Adele Dessa Sadovnick and Wendy S. Meschino and Kenneth Rockwood and Michael A. Boss and Richard P. Mayeux and Peter St George-Hyslop},
  journal={Neurology},
  year={2001},
  volume={57 4},
  pages={621-5}
}
BACKGROUND Mutations in the presenilin-1 gene (PS1) account for a majority of patients with early-onset familial AD. However, the clinical indications and algorithms for genetic testing in dementia are still evolving. METHODS The entire open reading frame of the PS1 gene was sequenced in a series of 414 consecutive patients referred for diagnostic testing, including 372 patients with AD and 42 asymptomatic persons with a strong family history of AD. RESULTS Forty-eight independent patients… CONTINUE READING

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