Neurogenetics

, Volume 7, Issue 4, pp 277–279

The A431E mutation in PSEN1 causing Familial Alzheimer’s Disease originating in Jalisco State, Mexico: an additional fifteen families

  • Jill Murrell
  • Bernardino Ghetti
  • Elizabeth Cochran
  • Miguel Angel Macias-Islas
  • Luis Medina
  • Arousiak Varpetian
  • Jeffrey L. Cummings
  • Mario F. Mendez
  • Claudia Kawas
  • Helena Chui
  • John M. Ringman
Letter to the Editors

DOI: 10.1007/s10048-006-0053-1

Cite this article as:
Murrell, J., Ghetti, B., Cochran, E. et al. Neurogenetics (2006) 7: 277. doi:10.1007/s10048-006-0053-1

Abstract

Nine families with autosomal dominant Alzheimer’s disease (AD), all of whom had the Ala431Glu substitution in the PSEN1 gene and came from Jalisco State in Mexico, have been previously reported. As they shared highly polymorphic flanking dinucleotide marker alleles, this strongly suggests that this mutation arose from a common founder. In the current letter, we expand this observation by describing an additional 15 independent families with the Ala431Glu substitution in the PSEN1 gene and conclude that this mutation is not an uncommon cause of early-onset autosomal dominant AD in persons of Mexican origin.

Keywords

Presenilin-1MexicanFounder effectA431EAla431GluAlzheimer’s disease

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Jill Murrell
    • 1
  • Bernardino Ghetti
    • 1
  • Elizabeth Cochran
    • 2
  • Miguel Angel Macias-Islas
    • 3
  • Luis Medina
    • 4
  • Arousiak Varpetian
    • 5
  • Jeffrey L. Cummings
    • 4
    • 6
  • Mario F. Mendez
    • 4
  • Claudia Kawas
    • 7
  • Helena Chui
    • 5
  • John M. Ringman
    • 4
  1. 1.Department of Pathology and Laboratory MedicineUniversity of Indiana Medical SchoolIndianapolisUSA
  2. 2.Departments of Pathology and Neurological SciencesRush-Presbyterian-St. Luke’s Medical CenterChicagoUSA
  3. 3.Neurosciences Department, CUCSUniversity of GuadalajaraZapopanMexico
  4. 4.UCLA Department of NeurologyAlzheimer’s Disease Research CenterLos AngelesUSA
  5. 5.Department of Neurology, Keck School of MedicineUniversity of Southern California, Rancho Los Amigos National RehabilitationDowneyUSA
  6. 6.Psychiatry and Biobehavioral ScienceUniversity of CaliforniaLos AngelesUSA
  7. 7.Departments of Neurology, Neurobiology and BehaviorUniversity of California, Irvine, Gillespie Neuroscience Research FacilityIrvineUSA