Article
Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features.
Acta neuropathologica - 1 Dec 2010
Giaccone Giorgio, Morbin Michela, Moda Fabio, Botta Mario, Mazzoleni Giulia, Uggetti Andrea, Catania Marcella, Moro Maria Luisa, Redaelli Veronica, Spagnoli Alberto, Rossi Roberta Simona, Salmona Mario, Di Fede Giuseppe, Tagliavini Fabrizio
Abstract excerpt
Mutations of three different genes, encoding β-amyloid precursor protein (APP), presenilin 1 and presenilin 2 are associated with familial Alzheimer's disease (AD). Recently, the APP mutation A673V has been identified that stands out from all the genetic defects previously reported in these three genes, since it causes the disease only in the homozygous state (Di Fede et al. in Science 323:1473-1477, 2009). We...
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