The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset alzheimer’s disease in Hispanics in Florida

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

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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 (48.1%), 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.

Original languageEnglish (US)
Pages (from-to)94-101
Number of pages8
JournalAmerican Journal of Neurodegenerative Diseases
Issue number1
StatePublished - 2016


  • Alzheimer’s disease
  • Diagnosis
  • Early-onset
  • Founder mutation
  • Hispanic
  • Presenilin 1

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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