期刊
JOURNAL OF ALZHEIMERS DISEASE
卷 16, 期 3, 页码 509-511出版社
IOS PRESS
DOI: 10.3233/JAD-2009-0986
关键词
Alzheimer's disease; atypical phenotype; familial; mutation; presenilin 2
资金
- Italian Ministry of Health [533F/Q/1, 71.6/2006, 2007/02]
- CARIPLO Foundation
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.
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