Article
Good gene, bad gene: new APP variant may be both.
Progress in neurobiology - 1 Dec 2012
Di Fede Giuseppe, Catania Marcella, Morbin Michela, Giaccone Giorgio, Moro Maria Luisa, Ghidoni Roberta, Colombo Laura, Messa Massimo, Cagnotto Alfredo, Romeo Margherita, Stravalaci Matteo, Diomede Luisa, Gobbi Marco, Salmona Mario, Tagliavini Fabrizio
Abstract excerpt
APP mutations cause Alzheimer disease (AD) with virtually complete penetrance. We found a novel APP mutation (A673V) in the homozygous state in a patient with early-onset AD-type dementia and in his younger sister showing initial signs of cognitive decline. It is noteworthy that the heterozygous relatives were not affected, suggesting that this mutation is inherited as an autosomal recessive trait. Studies on...
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