Thomas A Ravenscroft, Cyril Pottier, Melissa E Murray, Matt Baker, Elizabeth Christopher, Denise Levitch, Patricia H Brown, Warren Barker, Ranjan Duara, Maria Greig-Custo, Ana Betancourt, Mara English, Xiaoyan Sun, Nilüfer Ertekin-Taner, Neill R Graff-Radford, Dennis W Dickson, Rosa Rademakers
Mutations in the gene encoding the presenilin-1 protein (PSEN1) were first discovered to cause Alzheimer's disease (AD) 20 years ago. Since then more than 200 different pathogenic mutations have been reported, including a p.Gly206Ala founder mutation in the Hispanic population. Here we report mutation analysis of known AD genes in a cohort of 27 early-onset (age of onset ≤65, age of death ≤70) Hispanic patients ascertained in Florida. The PSEN1 p.Gly206Ala mutation was identified in 13 out of 27 patients (48...
2016: American Journal of Neurodegenerative Disease