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.
Marcon
Gabriella
G
Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. gmarcon@istituto-besta.it
Di Fede
Giuseppe
G
Giaccone
Giorgio
G
Rossi
Giacomina
G
Giovagnoli
Anna Rita
AR
Maccagnano
Elio
E
Tagliavini
Fabrizio
F
D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D019958:Attention Deficit and Disruptive Behavior Disorders / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D006801:Humans; D007558:Italy / Q000453:epidemiology; D007806:Language Disorders / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D053766:Presenilin-2 / Q000235:genetics*; D015995:Prevalence
C508861:PSEN2 protein, human; D053766:Presenilin-2