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 languinvolvement of other cognitive abilities, particularly of posterior functions.
A novel Italian PSEN2 mutation with behavioral phenotype / Marcon, Gabriella; G., Difede; G., Giaccone; G., Rossi; Giovagnoli, A. R.; E., Maccagnano; F., Tagliavini. - In: JOURNAL OF ALZHEIMER'S DISEASE. - ISSN 1387-2877. - 16:3(2009), pp. 509-511.
A novel Italian PSEN2 mutation with behavioral phenotype
MARCON, Gabriella;
2009-01-01
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 languinvolvement of other cognitive abilities, particularly of posterior functions.Pubblicazioni consigliate
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