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Utility of the Apolipoprotein E Genotype in the Diagnosis of Alzheimer's Disease
NEJM 338:506-511, Mayeux,R.,et al, 1998
See this aricle in Pubmed

Article Abstract
Of the 2188 patients,1833 were given a clinical diagnosis of Alzheimers disease,and the diagnosis was confirmed pathologically in 1770 patients at autopsy.Sixty-two percent of patients with clinically diagnosed Alzheimers disease,as compared with 65 percent of those with pathologically confirmed Alzheimers disease,had a least one APOE e4 allele.The sensitivity of the clinical diagnosis was 93 percent,and the specificity was 55 percent, whereas the sensitivity and specificity of APOE e4 allele were 65 and 68 percent,respectively.The addition of information about the APOE genotype increased the overall specificity of 84 percent in patients who met the clinical criteria for Alzheimers disease,although the sensitivity decreased.The improvement in specificity remained statistically significant in the multivariate analysis after adjustment for differences in age,clinical diagnosis,sex and center.APOE geneotyping does not provide sufficient sensitivity or specificity to be used alone as a diagnostic test for Alzheimers disease,but when used in combination with clinical criteria,it improves the specificity of the diagnosis.
 
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