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

  • Author(s): Murrell, J
  • Ghetti, B
  • Cochran, E
  • Macias-Islas, MA
  • Medina, L
  • Varpetian, A
  • Cummings, JL
  • Mendez, MF
  • Kawas, C
  • Chui, H
  • Ringman, JM
  • et al.
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. © Springer-Verlag 2006.

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