A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features.

doi:10.3233/JAD-2011-110185

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Article

A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features.

Journal of Alzheimer's disease : JAD - 1 Jan 2011

Gallo Maura, Marcello Norina, Curcio Sabrina A M, Colao Rosanna, Geracitano Silvana, Bernardi Livia, Anfossi Maria, Puccio Gianfranco, Frangipane Francesca, Clodomiro Alessandra, Mirabelli Maria, Vasso Franca, Smirne Nicoletta, Muraca Gabriella, Di Lorenzo Raffaele, Maletta Raffaele, Ghidoni Enrico, Bugiani Orso, Tagliavini Fabrizio, Giaccone Giorgio, Bruni Amalia C

Abstract excerpt

We report a novel presenilin1 (PSEN1) gene mutation (I143 V) in a four-generation family with Alzheimer's disease. Clinical, molecular, and neuropathological examinations were performed on index patient; thirteen affected subjects were also identified. The index patient presented at 55 with personality changes, apathy, reduction of verbal fluency, and temporal and spatial disorientation. At 68, she showed visual...

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PMID: 21422519
DOI: 10.3233/JAD-2011-110185

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PSEN1

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