title: PSEN1 and PRNP gene mutations: co-occurrence makes onset very early in a family with FTD phenotype.
abstract: 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 pathogenic and showed a variable penetrance when present separately; when occurring together, the onset was very early, within the third decade of life. Genetic screening of the PRNP gene becomes of major importance in early onset autosomal dominant dementia.
authors.affiliation: Regional Neurogenetic Centre, ASP CZ Lamezia Terme (CZ), Italy.
authors.forename: Livia
authors.initials: L
authors.lastname: Bernardi
authors.forename: Maria
authors.initials: M
authors.lastname: Anfossi
authors.forename: Maura
authors.initials: M
authors.lastname: Gallo
authors.forename: Silvana
authors.initials: S
authors.lastname: Geracitano
authors.forename: Rosanna
authors.initials: R
authors.lastname: Cola
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Puccio
authors.forename: Sabrina A M
authors.initials: SA
authors.lastname: Curcio
authors.forename: Francesca
authors.initials: F
authors.lastname: Frangipane
authors.forename: Maria
authors.initials: M
authors.lastname: Mirabelli
authors.forename: Alessandra
authors.initials: A
authors.lastname: Clodomiro
authors.forename: Raffaele
authors.initials: R
authors.lastname: Di Lorenzo
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Smirne
authors.forename: Raffaele
authors.initials: R
authors.lastname: Maletta
authors.forename: David
authors.initials: D
authors.lastname: Iapaolo
authors.forename: Amalia C
authors.initials: AC
authors.lastname: Bruni
mesh_terms: D000328:Adult; D017668:Age of Onset; D000369:Aged, 80 and over; D005192:Family Health; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D053764:Presenilin-1 / Q000235:genetics*; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*
chemical_list: C512656:PRNP protein, human; C508853:PSEN1 protein, human; D053764:Presenilin-1; D000072002:Prion Proteins; D011328:Prions