Article
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.
Neurology - 28 Aug 2001
Rogaeva E A, Fafel K C, Song Y Q, Medeiros H, Sato C, Liang Y, Richard E, Rogaev E I, Frommelt P, Sadovnick A D, Meschino W, Rockwood K, Boss M A, Mayeux R, St George-Hyslop P
Abstract excerpt
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...
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