%0 Journal Article
%T The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer¡¯s disease in Hispanics in Florida
%A Ana Betancourt
%A Cyril Pottier
%A Denise Levitch
%A Dennis W Dickson
%A Elizabeth Christopher
%A Mara English
%A Maria Greig-Custo
%A Matt Baker
%A Melissa E Murray
%A Neill R Graff-Radford
%A Nil¨¹fer Ertekin-Taner
%A Patricia H Brown
%A Ranjan Duara
%A Rosa Rademakers
%A Thomas A Ravenscroft
%A Warren Barker
%A Xiaoyan Sun
%J Archive of "American Journal of Neurodegenerative Disease".
%D 2016
%X 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 ¡Ü65, age of death ¡Ü70) Hispanic patients ascertained in Florida. The PSEN1 p.Gly206Ala mutation was identified in 13 out of 27 patients (48.1%), emphasizing the importance of this specific mutation in the etiology of early-onset AD in this population. One other patient carried the known PSEN1 p.Gly378Val mutation. Genotyping of the PSEN1 p.Gly206Ala and p.Gly378Val mutations in 63 late-onset Hispanic AD patients did not identify additional mutation carriers. All p.Gly206Ala mutation carriers shared rare alleles at two microsatellite markers flanking PSEN1 supporting a common founder. This study confirms the p.Gly206Ala variant as a frequent cause of early onset AD in the Hispanic population and for the first time reports the high frequency of this mutation in Hispanics in Florida
%K Alzheimer¡¯s disease
%K early-onset
%K presenilin 1
%K founder mutation
%K diagnosis
%K Hispanic
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4788736/