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

Research output: Contribution to journalArticle

34 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)277-279
Number of pages3
JournalNeurogenetics
Volume7
Issue number4
DOIs
StatePublished - Nov 2006

Keywords

  • A431E
  • Ala431Glu
  • Alzheimer's disease
  • Founder effect
  • Mexican
  • Presenilin-1

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)

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    Murrell, J., Ghetti, B., Cochran, E., Macias-Islas, M. A., Medina, L., Varpetian, A., Cummings, J. L., Mendez, M. F., Kawas, C., Chui, H., & Ringman, J. M. (2006). The A431E mutation in PSEN1 causing Familial Alzheimer's Disease originating in Jalisco State, Mexico: An additional fifteen families. Neurogenetics, 7(4), 277-279. https://doi.org/10.1007/s10048-006-0053-1