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Early-onset Alzheimer disease in an Italian family with presenilin-1 double mutation E318G and G394V.

Alzheimer disease and associated disorders - 1 Jan 2000

Batelli Sara, Albani Diego, Prato Francesca, Polito Letizia, Franceschi Massimo, Gavazzi Armando, Forloni Gianluigi

Abstract excerpt

The genetic form of Alzheimer disease (FAD) accounts for about 5% of total Alzheimer disease (AD) cases, and the discovery of FAD-linked genes has shed new light on AD pathogenic mechanism. The presenilins genes (PSEN-1 and PSEN-2) carry the large majority of FAD-linked mutations. Here, we report an Italian kindred with FAD and PSEN-1 double mutation E318G+G394V that clearly cosegregates with the pathology. The...

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PMID: 18525293
DOI: 10.1097/WAD.0b013e31815a9dec

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