The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families. Neurogenetics 2006 Nov;7(4):277-9
Date
08/10/2006Pubmed ID
16897084Pubmed Central ID
PMC3378247DOI
10.1007/s10048-006-0053-1Scopus ID
2-s2.0-33750037617 (requires institutional sign-in at Scopus site) 53 CitationsAbstract
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.
Author List
Murrell J, Ghetti B, Cochran E, Macias-Islas MA, Medina L, Varpetian A, Cummings JL, Mendez MF, Kawas C, Chui H, Ringman JMMESH terms used to index this publication - Major topics in bold
AdultAge of Onset
Alzheimer Disease
Family Health
Founder Effect
Genes, Dominant
Humans
Mexico
Point Mutation
Presenilin-1