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We analyzed the PRNP M129V polymorphism in a Dutch population-based early-onset Alzheimer's disease sample. We observed a significant association between early-onset Alzheimer's disease and homozygosity of M129V (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1-3.3; p = 0.02) with the highest risk for V homozygotes (OR, 3.2; 95% CI, 1.4-7.1; p < 0.01). In patients with a positive family history, these risks increased to 2.6 (95% CI, 1.3-5.3; p < 0.01) and 3.5 (95% CI, 1.3-9.3; p = 0.01), respectively.

Original publication




Journal article


Ann Neurol

Publication Date





409 - 412


Adult, Aged, Alleles, Alzheimer Disease, Amyloid, Chi-Square Distribution, Confidence Intervals, Female, Genotype, Homozygote, Humans, Male, Middle Aged, Odds Ratio, Prion Proteins, Prions, Protein Precursors, Risk Factors