Article
A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.
Annals of neurology - 1 Jun 1997
Gómez-Isla T, Wasco W, Pettingell W P, Gurubhagavatula S, Schmidt S D, Jondro P D, McNamara M, Rodes L A, DiBlasi T, Growdon W B, Seubert P, Schenk D, Growdon J H, Hyman B T, Tanzi R E
Abstract excerpt
The prevalence of known mutations in presenilin genes (PS1 and PS2) causing early-onset familial Alzheimer's disease (FAD) was assessed in a population of 98 singleton early-onset AD cases, 29 early-onset FAD cases, and 15 late-onset FAD cases. None of the cases tested positive for the eight mutations initially reported, and none of these mutations were observed in 60 age-matched controls. A novel mutation...
Read the complete abstract on PubMedTopics
- Age of Onset
- Aged
- Alzheimer Disease
- Amyloid beta-Peptides
- Brain
- Female