Display options
Cite
Ravenscroft TA, Pottier C, Murray ME, et al. The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida. Am J Neurodegener Dis. 2016;5(1):94-101
Ravenscroft, T. A., Pottier, C., Murray, M. E., Baker, M., Christopher, E., Levitch, D., Brown, P. H., Barker, W., Duara, R., Greig-Custo, M., Betancourt, A., English, M., Sun, X., Ertekin-Taner, N., Graff-Radford, N. R., Dickson, D. W., & Rademakers, R. (2016). The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida. American journal of neurodegenerative disease, 5(1), 94-101.
Ravenscroft, Thomas A, et al. "The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida." American journal of neurodegenerative disease vol. 5,1 (2016): 94-101.
Ravenscroft TA, Pottier C, Murray ME, Baker M, Christopher E, Levitch D, Brown PH, Barker W, Duara R, Greig-Custo M, Betancourt A, English M, Sun X, Ertekin-Taner N, Graff-Radford NR, Dickson DW, Rademakers R. The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida. Am J Neurodegener Dis. 2016 Mar 01;5(1):94-101. eCollection 2016. PMID: 27073747; PMCID: PMC4788736.
Copy Download .nbib Format: NLM
Share it on

Am J Neurodegener Dis. 2016 Mar 01;5(1):94-101. eCollection 2016.

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

American journal of neurodegenerative disease

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

Affiliations

  1. Department of Neuroscience, Mayo Clinic Jacksonville, FL, 32224 USA.
  2. Wien Center for Alzheimer's Disease and Memory Disorders, Mount Sinai Medical Center Miami Beach, FL, 32224 USA.
  3. McKnight Brain Institute, Miller School of Medicine, University of Miami Miami, FL, 32224 USA.
  4. Department of Neuroscience, Mayo ClinicJacksonville, FL, 32224 USA; Department of Neurology, Mayo ClinicJacksonville, FL, 32224 USA.
  5. Department of Neurology, Mayo Clinic Jacksonville, FL, 32224 USA.

PMID: 27073747 PMCID: PMC4788736

Abstract

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.

Keywords: Alzheimer’s disease; Hispanic; diagnosis; early-onset; founder mutation; presenilin 1

References

  1. Lancet Neurol. 2012 Jul;11(7):567 - PubMed
  2. Nature. 1995 Jun 29;375(6534):754-60 - PubMed
  3. Hum Mutat. 1998;11(6):481 - PubMed
  4. Am J Geriatr Psychiatry. 2011 May;19(5):430-9 - PubMed
  5. Arch Neurol. 2005 Nov;62(11):1786-7 - PubMed
  6. Lancet Neurol. 2014 Jun;13(6):614-29 - PubMed
  7. Neuron. 2011 Oct 20;72(2):245-56 - PubMed
  8. JAMA Neurol. 2014 Nov;71(11):1394-404 - PubMed
  9. Nature. 1991 Feb 21;349(6311):704-6 - PubMed
  10. Nat Genet. 2006 Jan;38(1):24-6 - PubMed
  11. Mol Psychiatry. 2012 Sep;17(9):875-9 - PubMed
  12. JAMA. 2001 Nov 14;286(18):2257-63 - PubMed
  13. Brain. 2006 Nov;129(Pt 11):2977-83 - PubMed
  14. JAMA Neurol. 2015 Sep;72(9):1043-51 - PubMed
  15. Brain. 2006 Nov;129(Pt 11):2966-76 - PubMed
  16. Neurology. 1997 Jul;49(1):44-50 - PubMed
  17. Mol Genet Genomic Med. 2014 Sep;2(5):430-7 - PubMed
  18. J Alzheimers Dis. 2013;33(4):1089-95 - PubMed
  19. Am J Neurodegener Dis. 2012;1(1):107-18 - PubMed
  20. JAMA. 1997 Mar 12;277(10):793-9 - PubMed
  21. Science. 1993 Aug 13;261(5123):921-3 - PubMed
  22. Int J Geriatr Psychiatry. 1999 Jun;14(6):481-93 - PubMed
  23. Hum Mol Genet. 1995 Dec;4(12):2373-7 - PubMed
  24. Nat Rev Neurol. 2013 Feb;9(2):106-18 - PubMed
  25. Nature. 1995 Aug 31;376(6543):775-8 - PubMed
  26. Neurology. 2001 Jan 9;56(1):49-56 - PubMed
  27. Lancet Neurol. 2011 Sep;10(9):785-96 - PubMed
  28. Science. 1995 Aug 18;269(5226):973-7 - PubMed

Publication Types

Grant support