A Founder Mutation in Presenilin 1 Causing Early-Onset Alzheimer Disease in Unrelated Caribbean Hispanic Families

CONTEXT Genetic determinants of Alzheimer disease (AD) have not been comprehensively examined in Caribbean Hispanics, a population in the United States in whom the frequency of AD is higher compared with non-Hispanic whites. OBJECTIVE To identify variant alleles in genes related to familial early-on...

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Bibliographic Details
Published in:	JAMA : the journal of the American Medical Association Vol. 286; no. 18; pp. 2257 - 2263
Main Authors:	Athan, Eleni S, Williamson, Jennifer, Ciappa, Alejandra, Santana, Vincent, Romas, Stavra N, Lee, Joseph H, Rondon, Haydee, Lantigua, Rafael A, Medrano, Martin, Torres, Mayobanex, Arawaka, Shigeki, Rogaeva, Ekaterina, Song, You-Qiang, Sato, Christine, Kawarai, Toshitaka, Fafel, Kimberley C, Boss, Michael A, Seltzer, William K, Stern, Yaakov, St George-Hyslop, Peter, Tycko, Benjamin, Mayeux, Richard
Format:	Journal Article
Language:	English
Published:	Chicago, IL American Medical Association 14-11-2001
Subjects:	Age of Onset Aged Alanine Alzheimer Disease - epidemiology Alzheimer Disease - genetics Alzheimer's disease Amyloid beta-Protein Precursor - genetics Apolipoproteins E - genetics Biological and medical sciences Caribbean Region - ethnology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis Dominican Republic - ethnology Exons Genetics Genotype Glycine Haplotypes Hispanic Americans - genetics Hispanic people Humans Medical research Medical sciences Membrane Proteins - genetics Microsatellite Repeats Middle Aged Mutation Neurology Phenotype Polymorphism, Genetic Presenilin-1 Puerto Rico - ethnology United States - epidemiology Caribbean Sea United States North America America Dominican Republic Puerto Rico Caribbean Region Human Nervous system diseases Alzheimer disease Family study Presenilin Genetic determinism Ethnic group Cerebral disorder Age of onset Gene Central nervous system disease Predisposition Genetics Adult Early Degenerative disease Mutation
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