Programma - Società italiana di neurologia
Programma - Società italiana di neurologia
Programma - Società italiana di neurologia
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COMUNICAZIONI ORALI: NEUROGENETICA 2<br />
ore 11.30 - 13.30<br />
Moderatori<br />
G. DI IORIO (Napoli) - F. TARONI (Milano)<br />
11.30 LATE-ONSET CEREBELLAR ATAXIA IN A LARGE FAMILY WITH<br />
CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES TYPE 1<br />
(CFEOM1). A NEW FORM OF INHERITED ATAXIA<br />
G. COMANDUCCI, R. DI FABIO, T. DE BERNARDINI, U. SABATINI, M. LEROSE,<br />
F. CORTESE, M. DEMICCO, C. DAVASSI, S. SAVA, M. GORINI, M. SERRAO,<br />
F. PIERELLI, C. CASALI (Roma)<br />
11.45 TARDBP MUTATIONS IN FTLD: FREQUENCY, CLINICAL FEATURES,<br />
AND DISEASE COURSE<br />
B. BORRONI, S. ARCHETTI, R. DEL BO, A. PAPETTI, E. BURATTI, C. BONVICINI,<br />
C. AGOSTI, M. COSSEDDU, M. TURLA, G. COMI, M. GENNARELLI, A. PADOVANI<br />
(Brescia, Milano, Trieste)<br />
12.00 RECESSIVE PARAPLEGIN (SPG7) MUTATIONS IN SPASTIC PARAPLEGIA<br />
FAMILIES WITH DOMINANT PATTERN OF INHERITANCE<br />
D. DI BELLA, M. PLUMARI, S. MAGRI, V. FRACASSO, E. SALSANO, D. PAREYSON,<br />
D. TESTA, C. GELLERA, S. BARATTA, F. TARONI (Milano)<br />
12.15 OCCURRENCE OF SPG4/SPAST AND SPG3A/ATLASTIN MUTATIONS<br />
IN A SINGLE FAMILY WITH AUTOSOMAL DOMINANT HEREDITARY<br />
SPASTIC PARAPARESIS: CLINICAL CONSIDERATIONS AND IMPLICATIONS<br />
FOR GENETIC COUNSELING<br />
M. LEROSE, R. DI FABIO, F. M. SANTORELLI, A. TESSA, M. SERRAO, F. CORTESE,<br />
S.L. SAVA, M. GORINI, M. DE MICCO, C. DAVASSI, F. PIERELLI, C. CASALI (Roma,<br />
Latina, Pisa)<br />
12.30 AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY<br />
(ARSACS): CLINICAL AND GENETIC DESCRIPTION OF A LARGE COHORT<br />
OF ITALIAN PATIENTS<br />
M.C. PANZERI, F. SANTORELLI, A. TESSA, M. GRISOLI, G. UZIEL, S. D'ARRIGO,<br />
M. MANDELLI, L. NANETTI, C. TOMASELLO, C. GELLERA, F. TARONI, C. MARIOTTI<br />
(Milano, Pisa)<br />
12.45 INTRAFAMILIAL VARIABILITY IN A LARGE SPG4 FAMILY FROM NORTH<br />
SARDINIA: CLINICAL ASSESSMENT AND SEARCH FOR MOLECULAR<br />
DETERMINANTS IN “THE NULVI KINDRED”<br />
L. RACIS, R. DIFABIO, F. M. SANTORELLI, A. TESSA, M. DEMICCO, C. DAVASSI,<br />
S. SAVA, M. GORINI, F. PIERELLI, C. CASALI (Sassari, Roma, Pisa)<br />
13.00 EXOME SEQUENCING OF AN ITALIAN PATIENT WITH DHMN<br />
L. CITRIGNO, M. MUGLIA, S. ZÜCHNER, A. MAGARIELLO, A. PATITUCCI, A. GABRIELE,<br />
F. CONFORTI, R. MAZZEI, C. UNGARO, W. SPROVIERO, A. GAMBARDELLA,<br />
A. QUATTRONE (Piano Lago <strong>di</strong> Mangone - CS, Miami - USA, Catanzaro)<br />
13.15 LGI1-NULL MICE: SEIZURES CAN INDUCE BRAIN DAMAGE<br />
G. PROVENZANO, E. CHABROL, V. NAVARRO, I. COHEN, C. DINOCOURT, S. RIVAUD-<br />
PÉCHOUX, D. FRICKER, M. BAULAC, R. MILES, E. LEGUERN, S. BAULAC (Cosenza,<br />
Paris - F)<br />
13.30 - 14.30 Pausa pranzo<br />
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