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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.

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.[1]

References

  1. A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype. Marcon, G., Di Fede, G., Giaccone, G., Rossi, G., Giovagnoli, A.R., Maccagnano, E., Tagliavini, F. J. Alzheimers Dis. (2009) [Pubmed]
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