The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families.
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.
Murrell
Jill
J
Department of Pathology and Laboratory Medicine, University of Indiana Medical School, 635 Barnhill Drive, MS A128, Indianapolis, IN 46202-5126, USA.
Ghetti
Bernardino
B
Cochran
Elizabeth
E
Macias-Islas
Miguel Angel
MA
Medina
Luis
L
Varpetian
Arousiak
A
Cummings
Jeffrey L
JL
Mendez
Mario F
MF
Kawas
Claudia
C
Chui
Helena
H
Ringman
John M
JM
D000328:Adult; D017668:Age of Onset; D000544:Alzheimer Disease / Q000208:ethnology* / Q000235:genetics*; D005192:Family Health; D018703:Founder Effect; D005799:Genes, Dominant; D006801:Humans; D008800:Mexico / Q000453:epidemiology; D017354:Point Mutation; D053764:Presenilin-1 / Q000235:genetics*
C508853:PSEN1 protein, human; D053764:Presenilin-1