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

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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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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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Correspondence to John M. Ringman.

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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

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