programma definitivo - SocietÃ italiana di neurologia

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4 N O V E M B R E • COMUNICAZIONI ORALI: MALATTIE NEUROMUSCOLARI 2 ore 10.00 - 12.00 Moderatori M. MOGGIO (Milano) - E. NOBILE-ORAZIO (Milano) 11.30 EXPANDING THE CLINICAL SPECTRUM OF ANO 5 MUTATIONS L. RUGGIERO, M. SAVARESE, C. FIORILLO, R. IODICE, V. NIGRO, L. SANTORO (Napoli, Genova) 11.45 CLINICAL FINDINGS AND INSIGHTS INTO THE PATHOGENESIS OF LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1F E. PETERLE, M. FANIN, G. CENACCHI, C. SEMPLICINI, V. NIGRO, C. ANGELINI (Padova, Bologna, Napoli, Venezia) S A L A G I A L L A 1 12.00 - 13.30 Pausa pranzo con poster 74
COMUNICAZIONI ORALI: NEUROGENETICA 2 ore 10.00 - 12.00 Moderatori G. DI IORIO (Napoli) - E. PARATI (Milano) 10.00 EARLY-ONSET OPTIC NEUROPATHY AS INITIAL CLINICAL PRESENTATION IN SPG7 C. CASALI, C. MARCOTULLI, L. LEONARDI, A. TESSA, R. DI FABIO, F. SANTORELLI, F. PIERELLI (Latina, Pisa) 10.15 PARAPLEGIN GENE MUTATIONS (SPG7) ARE A FREQUENT CAUSE OF SPASTIC PARAPLEGIA IN ITALIAN PATIENTS: CLINICAL AND GENETIC CHARACTERIZATION OF 35 PATIENTS L. NANETTI, D. DI BELLA, M. PLUMARI, S. MAGRI, V. FRACASSO, D. PAREYSON, M. PANZERI, G. PISCOSQUITO, E. SALSANO, C. MARIOTTI, F. TARONI (Milano) 10.30 HEREDITARY SPASTIC PARAPLEGIA TYPE 5: A (TREATABLE) DISORDER OF CHOLESTEROL METABOLISM A. MIGNARRI, A. MALANDRINI, M. DEL PUPPO, A. MAGNI, L. MONTI, F. GINANNESCHI, A. TESSA, F. SANTORELLI, A. FEDERICO, M. DOTTI (Siena, Milano, Pisa) 10.45 TWO NEW AMINOACYL TRNA SYNTHETASES ARE RESPONSIBLE FOR SEVERE INFANTILE MITOCHONDRIAL DISORDERS D. DIODATO, L. MELCHIONDA, P. BALESTRI, T. GRANATA, I. FERRERO, C. LAMPERTI, D. GHEZZI, M. ZEVIANI (Milano, Siena, Parma) 11.00 CEREBROTENDINOUS XANTHOMATOSIS: A SCREENING TOOL TO AID EARLY DIAGNOSIS OF A TREATABLE METABOLIC DISEASE A. MIGNARRI, G. GALLUS, M. DOTTI, A. FEDERICO (Siena) 11.15 EPIDEMIOLOGIC SURVEY OF A RESTRICTED AREA IN SOUTH-EAST LAZIO FOR SPINAL AND BULBAR MUSCULAR ATROPHY (SBMA) C. MARCOTULLI, L. LEONARDI, R. DI FABIO, F. PIERELLI, C. CASALI (Latina) 11.30 SEXUAL FUNCTION EVALUATION IN HEREDITARY SPASTIC PARAPLEGIA- SPG4 L. LEONARDI, S. HAGGIAG, C. MARCOTULLI, F. PIERELLI, C. CASALI (Latina, Roma) 11.45 NARCOLEPSY IS A COMMON FINDING IN DNMT1-ASSOCIATED DISEASES K.K. MOGHADAM, F. PIZZA, C. LA MORGIA, C. FRANCESCHINI, C. TONON, P. BARBONI, M. SERI, R. LIGUORI, R. LODI, V. DONADIO, S. CAPELLARI, F. CORNELIO, D. INZITARI, A. MIGNARRI, G. CAPOCCHI, M. DOTTI, J. WINKELMANN, L. LIN, E. MIGNOT, V. CARELLI, G. PLAZZI (Bologna, Milano, Firenze, Siena, Terni, Monaco - D, Palo Alto - USA) 4 N O V E M B R E • S A L A G I A L L A 2 12.00 - 13.30 Pausa pranzo con poster 75
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Sotto l’Alto Patronato della Pres
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CONSIGLIO DIRETTIVO SIN Presidente
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IN TRENO Stazione Centrale - Stazio
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Accademia Nazionale di Medicina 16
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AUDITORIUM SALA SILVER 12.30 - 13.3
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SEGRETERIA ORGANIZZATIVA SIN Studio
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