title: Atypical dementia associated with a novel presenilin-2 mutation.
abstract: We describe an Italian pedigree with hereditary dementia associated with a novel T122R mutation in the presenilin-2 gene (PSEN2). The clinical history, symptom presentation, and structural neuroimaging were consistent with an atypical form of dementia. Disease expression varied within family members. One in a pair of mutated monozygotic twins had evident signs of disease, whereas the other did not, even if her functional neuroimaging investigations, cerebrospinal fluid levels of Abeta1-42, and Tau protein were able to provide markers for future disease development. These observations suggest the importance of still unknown biological and perhaps environmental factors in the disease determination.
authors.affiliation: Neurobiology Lab and Memory Clinic, IRCCS-Fatebenefratelli, via Pilastroni 4, 25123 Brescia, Italy. gbinetti@oh-fbf.it
authors.forename: Giuliano
authors.initials: G
authors.lastname: Binetti
authors.forename: Simona
authors.initials: S
authors.lastname: Signorini
authors.forename: Rosanna
authors.initials: R
authors.lastname: Squitti
authors.forename: Antonella
authors.initials: A
authors.lastname: Alberici
authors.forename: Luisa
authors.initials: L
authors.lastname: Benussi
authors.forename: Emanuele
authors.initials: E
authors.lastname: Cassetta
authors.forename: Giovanni Battista
authors.initials: GB
authors.lastname: Frisoni
authors.forename: Laura
authors.initials: L
authors.lastname: Barbiero
authors.forename: Enrica
authors.initials: E
authors.lastname: Feudatari
authors.forename: Francesca
authors.initials: F
authors.lastname: Nicosia
authors.forename: Cristina
authors.initials: C
authors.lastname: Testa
authors.forename: Orazio
authors.initials: O
authors.lastname: Zanetti
authors.forename: Massimo
authors.initials: M
authors.lastname: Gennarelli
authors.forename: Daniela
authors.initials: D
authors.lastname: Perani
authors.forename: Davide
authors.initials: D
authors.lastname: Anchisi
authors.forename: Roberta
authors.initials: R
authors.lastname: Ghidoni
authors.forename: Paolo Maria
authors.initials: PM
authors.lastname: Rossini
mesh_terms: D000368:Aged; D001921:Brain / Q000473:pathology; D003704:Dementia / Q000134:cerebrospinal fluid / Q000235:genetics* / Q000473:pathology / Q000523:psychology; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D053766:Presenilin-2
chemical_list: D008565:Membrane Proteins; C508861:PSEN2 protein, human; D053766:Presenilin-2