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Article

PSEN1 and PRNP gene mutations: co-occurrence makes onset very early in a family with FTD phenotype.

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

Bernardi Livia, Anfossi Maria, Gallo Maura, Geracitano Silvana, Cola Rosanna, Puccio Gianfranco, Curcio Sabrina A M, Frangipane Francesca, Mirabelli Maria, Clodomiro Alessandra, Di Lorenzo Raffaele, Smirne Nicoletta, Maletta Raffaele, Iapaolo David, Bruni Amalia C

Abstract excerpt

Prion protein (PRNP) gene mutations have recently been associated with clinical pictures resembling Frontotemporal dementia (FTD). We describe a novel seven extra-repeat insertional mutation in the PRNP gene in a family affected by early-onset autosomal dominant FTD previously reported as caused by a PSEN1 mutation in which there was inconsistency between clinical picture and genotype. Both mutations were...

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Identifiers

PMID: 21297264
DOI: 10.3233/JAD-2011-101890

Genes

PRNP
PSEN1

Provenance

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