Frontal Variant of Alzheimer’s Disease: A Report of a Novel PSEN1 Mutation

Article type: Short Communication

Authors: Monacelli, Fiammetta^{a; b; *} | Martella, Lucia^{a; b} | Parodi, Maria Nives^{a; b} | Odetti, Patrizio^{a; b} | Fanelli, Francesca^{c; d} | Tabaton, Massimo^b

Affiliations: [a] Department of Internal Medicine and Medical Specialities, DIMI, Section of Geriatrics, Genoa, Italy | [b] Ospedale Policlinico San Martino, I.R.C.C.S. Per l’Oncologia, Genoa, Italy | [c] Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy | [d] Center for Neuroscience and Neurotechnology, University of Modena and Reggio Emilia, Modena, Italy

Correspondence: [*] Correspondence to: Dr. Fiammetta Monacelli, MD, PhD in Geriatrics, Assistant Researcher in Geriatrics, Di.M.I., Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy. Tel.:/Fax: 003901035351055; E-mail: fiammetta.monacelli@unige.it.

Abstract: Alzheimer’s disease may mimic frontotemporal dementia. We describe a case of presenile dementia who presented with peudo-psychotic symptoms carrying a PSEN1 mutation (P355 S), which was not known to be pathogenic. PET-FDG showed bilateral frontotemporal hypometabolism, but at MRI, multiple microbleeds were detected, suggestive of amyloid angiopathy.

Keywords: Behavioral variant, presenile dementia, presenilin 1 mutation

DOI: 10.3233/JAD-190363

Journal: Journal of Alzheimer's Disease, vol. 70, no. 1, pp. 11-15, 2019