Atypical dementia associated with a novel presenilin-2 mutation.
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.
Binetti
Giuliano
G
Neurobiology Lab and Memory Clinic, IRCCS-Fatebenefratelli, via Pilastroni 4, 25123 Brescia, Italy. gbinetti@oh-fbf.it
Signorini
Simona
S
Squitti
Rosanna
R
Alberici
Antonella
A
Benussi
Luisa
L
Cassetta
Emanuele
E
Frisoni
Giovanni Battista
GB
Barbiero
Laura
L
Feudatari
Enrica
E
Nicosia
Francesca
F
Testa
Cristina
C
Zanetti
Orazio
O
Gennarelli
Massimo
M
Perani
Daniela
D
Anchisi
Davide
D
Ghidoni
Roberta
R
Rossini
Paolo Maria
PM
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
D008565:Membrane Proteins; C508861:PSEN2 protein, human; D053766:Presenilin-2