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Considerable evidence suggests that alterations in genes encoding these proteins exert their influence on the pathogenesis of familial Alzheimer's disease (FAD). Presenilin enhancer\u20102 gene (<jats:italic>PEN\u20102<\/jats:italic>) is a necessary component of the \u03b3\u2010Secretase complex. Recently, it has been shown that <jats:italic>PEN\u20102<\/jats:italic> mutations could be involved in Alzheimer's disease (AD). We performed a mutational screening of all <jats:italic>PEN\u20102<\/jats:italic> coding and promoter regions in a FAD cohort derived from Southern Italy. Four hundred and fifty\u2010two subjects (FAD: 97; Controls: 355) were recruited for this study. We identified for the first time in a key region necessary for the promoter activity a novel 3 bp deletion in a subject with early\u2010FAD. Our genetic data demonstrate that the mutant allele may influence the transcriptional activity of the <jats:italic>PEN\u20102<\/jats:italic> gene. 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