Programma - Società italiana di neurologia

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