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| Research article summary (published 27 Feb 2009): |
A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.
Full 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.
Author information
Author/s: Marcon, Gabriella (G); Di Fede, Giuseppe (G); Giaccone, Giorgio (G); Rossi, Giacomina (G); Giovagnoli, Anna Rita (AR); Maccagnano, Elio (E); Tagliavini, Fabrizio (F);
Affiliation: Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. gmarcon(-atsign-)istituto-besta.it
Journal and publication information
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal: Journal of Alzheimer's disease : JAD (J Alzheimers Dis), published in Netherlands. (Language: eng)
Reference: 2009-Mar; vol 16 (issue 3) : pp 509-11
Dates: Created 2009/03/11; Completed 2009/05/18;
PMID: 19276543, status: MEDLINE (last retrieval date: 5/18/2009, IMS Date: )
Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.
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