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.
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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 65:552–558
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 75:500–502
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 286:2257–2263
Acknowledgements
This study was supported by Alzheimer’s Association New Investigator Research Grant 01-2797, PHS K08 AG-22228, California DHS #04-35522, and the Shirley and Jack Goldberg Trust. Further support for this study came from Alzheimer’s Disease Research Center Grants AG-16570, AG-10133, AG-16573, AG-21886, and PHS R01 AG-21055 from the National Institute on Aging, an Alzheimer’s Disease Research Center of California grant, and the Sidell Kagan Foundation.
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Murrell, J., Ghetti, B., Cochran, E. et al. The A431E mutation in PSEN1 causing Familial Alzheimer’s Disease originating in Jalisco State, Mexico: an additional fifteen families. Neurogenetics 7, 277–279 (2006). https://doi.org/10.1007/s10048-006-0053-1
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DOI: https://doi.org/10.1007/s10048-006-0053-1