A Novel Italian Presenilin 2 Gene Mutation with Prevalent Behavioral Phenotype

Article type: Short Communication

Authors: Marcon, Gabriella^{a; b; *} | Di Fede, Giuseppe^a | Giaccone, Giorgio^a | Rossi, Giacomina^a | Giovagnoli, Anna Rita^a | Maccagnano, Elio^a | Tagliavini, Fabrizio^a

Affiliations: [a] Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy | [b] Dipartimento Patologia e Medicina Sperimentale e Clinica, University of Udine, Udine, Italy

Correspondence: [*] Corresponding author: Gabriella Marcon, MD, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133 Milan, Italy. Tel.: +39 02 2394 2260; Fax: +39 02 2394 2101; E-mail: gmarcon@istituto-besta.it.

Abstract: Presenilin mutations are the main cause of familial Alzheimer's disease. So far, more than 160 mutations in the Presenilin 1 gene (PSEN1) and approximately 10 mutations in the homologous Presenilin 2 gene (PSEN2) have been identified. Some PSEN1 mutations are associated with a phenotype fulfilling the clinical criteria of frontotemporal dementia. In PSEN2, T122P and M239V mutations presented with severe behavioral disturbances. We describe an Italian patient with a novel PSEN2 mutation (Y231C) who showed behavioral abnormalities and language impairment as presenting symptoms, with later involvement of other cognitive abilities, particularly of posterior functions.

Keywords: Alzheimer's disease, atypical phenotype, familial, mutation, presenilin 2

DOI: 10.3233/JAD-2009-0986

Journal: Journal of Alzheimer's Disease, vol. 16, no. 3, pp. 509-511, 2009