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01-11-2006 | Letter to the Editors

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

Authors: 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

Published in: Neurogenetics | Issue 4/2006

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.

Yescas P, Huertas-Vazquez A, Villarreal-Molina MT, Rasmussen A, Tusie-Luna MT, Lopez M, Canizales-Quinteros S, Alonso ME (2006) Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer’s disease in Mexican families. Neurogenetics (electronic publication ahead of print)

Ringman JM, Diaz-Olavarrieta C, Rodriguez Y, Chavez M, Fairbanks L, Paz F, Varpetian A, Maldonado HC, Macias-Islas MA, Murrell J, Ghetti B, Kawas C (2005) Neuropsychological function in nondemented carriers of presenilin-1 mutations. Neurology 65:552–558PubMedCrossRef

Ringman JM, Diaz-Olavarrieta C, Rodriguez Y, Chavez M, Paz F, Murrell J, Macias MA, Hill M, Kawas C (2004) Female preclinical presenilin-1 mutation carriers unaware of their genetic status have higher levels of depression than their non-mutation carrying kin. J Neurol Neurosurg Psychiatry 75:500–502PubMedCrossRef

Cochran EJ, Murrell JR, Fox J, Ringman J, Ghetti B (2001) A novel mutation in the Presenilin-1 gene (A431E) associated with early-onset Alzheimer’s disease. J Neuropathol Exp Neurol 60:544

Athan ES, Williamson J, Ciappa A, Santana V, Romas SN, Lee JH, Rondon H, Lantigua RA, Medrano M, Torres M, Arawaka S, Rogaeva E, Song YQ, Sato C, Kawarai T, Fafel KC, Boss MA, Seltzer WK, Stern Y, St George-Hyslop P, Tycko B, Mayeux R (2001) A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. JAMA 286:2257–2263PubMedCrossRef

Title: The A431E mutation in PSEN1 causing Familial Alzheimer’s Disease originating in Jalisco State, Mexico: an additional fifteen families
Authors: 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
Publication date: 01-11-2006
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 4/2006
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-006-0053-1

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

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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