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- Title
PSEN1 and PRNP Gene Mutations Co-occurrence Makes Onset Very Early in a Family with FTD Phenotype.
- Authors
Bernardi, Livia; Anfossi, Maria; Gallo, Maura; Geracitano, Silvana; Colao, 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
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.
- Subjects
DEMENTIA; GENETIC polymorphisms; GENETIC mutation; PRIONS; PROTEINS; PRESENILINS
- Publication
Journal of Alzheimer's Disease, 2011, Vol 24, Issue 3, p415
- ISSN
1387-2877
- Publication type
Article
- DOI
10.3233/JAD-2011-101890