Prevalence of TAU mutations in an Italian clinical series of familial frontotemporal patients.
Frontotemporal dementia (FTD) is a clinical entity grouping different diagnostic conditions. FTD can occur in a sporadic form; however in 30-50% of cases a familial form of FTD has been observed. Mutations in the TAU gene were associated to familial FTD linked to chromosome 17. Our aim was to investigated the proportion of FTD cases attributable to TAU gene mutations in an Italian clinical series. We analyzed 38 patients with FTD; of these, 13 had a positive family history of FTD. All TAU gene exons and flanking intronic regions were sequenced. In our familial FTD sample the estimation of TAU gene mutations accounted for a relative low prevalence (7.6%); based on our results we could argue the existence of other mutations in regulatory regions in the TAU gene or, on the other hand, other genes might be responsible for the most cases of familial FTD.
Binetti
Giuliano
G
Neurobiology Laboratory, IRCCS Centro S Giovanni di Dio-FBF, Via Pilastroni 4, 25123 Brescia, Italy. gbinetti@oh-fb.it
Nicosia
Francesca
F
Benussi
Luisa
L
Ghidoni
Roberta
R
Feudatari
Enrica
E
Barbiero
Laura
L
Signorini
Simona
S
Villa
Aldo
A
Mattioli
Flavia
F
Zanetti
Orazio
O
Alberici
Antonella
A
D000368:Aged; D000369:Aged, 80 and over; D003704:Dementia / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D016875:tau Proteins / Q000235:genetics*
D016875:tau Proteins