Pausa pranzo con poster - Società italiana di neurologia

739. INFANTILE-ONSET HEREDITARY SPASTIC PARAPLEGIA ASSOCIATEDWITH SPAST MUTATIONS (SPG4): CLINICAL AND FOLLOW-UP STUDIESC. CASALI, F. PICCOLO, C. MARCOTULLI, F. SANTORELLI, A. TESSA, R. DI FABIO, M.D’ANGELO, M. SERRAO, F. PIERELLI, M. MELONE (Latina, Calambrone - PI, BosisioParini - LC, Napoli)740. GENOTYPE-PHENOTYPE CORRELATION ANALYSIS IN A LARGE ITALIANFAMILY WITH LATE-ONSET GLYCOGENOSIS IID. FORMICOLA, T. ESPOSITO, F. GIANFRANCESCO, F. CIPULLO, O. FARINA, M.SIMONETTI, S. SAMPAOLO, G. DI IORIO (Napoli)741. SPINOCEREBELLAR ATAXIA TYPE 10 IN A PERUVIAN WOMAN IN ITALYC. CASALI, M. DI MICCO, F. PICCOLO, A. TESSA, R. DI FABIO, M. SERRAO, F.SANTORELLI, F. PIERELLI (Latina, Pisa)742. SENATAXIN GENE MUTATIONAL SCREENING IN ITALIAN PATIENTS:CLINICAL, GENETIC AND NEURORADIOLOGICAL CHARACTERIZATIONOF 11 PATIENTS WITH ATAXIA-OCULOMOTOR APRAXIA TYPE 2 (AOA2)L. NANETTI, S. CAVALIERI, D. PAREYSON, M. PANZERI, A. ERBETTA, G. ZORZI, C.ANTOZZI, V. PENSATO, B. CASTELLOTTI, A. BRUSCO, C. MARIOTTI (Milano, Torino)743. A NOVEL SLC2A1 GENE MUTATION RECURRING IN A SMALL FAMILYWITH HETEROGENEOUS PHENOTYPEF. BISULLI, L. DI VITO, D. MEI, I. NALDI, E. PASINI, L. LICCHETTA, P. TINUPER(Bologna, Firenze)744. EXERCISE-INDUCED RHABDOMYOLYSIS AS UNUSUAL MANIFESTATIONOF GLUT-1 DEFICIENCY SYNDROMEC.G. LEONARDI, E. FERLAZZO, O. MUSUMECI, S. GASPARINI, A. VINCI, M. LATELLA,V. CIANCI, A. GAMBARDELLA, A. LABATE, G. ANNESI, P. TARANTINO, A. TOSCANO,U. AGUGLIA (Reggio Calabria, Catanzaro, Messina, Cosenza)745. FRIEDREICH ATAXIA: A NOVEL DELETION IN A PATIENT FROMSOUTHERN ITALYF. SACCÀ, G. PUORRO, A. MARSILI, A. ANTENORA, P. SCOPPETTUOLO, C. PANE, A.TESSA, V. BRESCIA MORRA, G. DE MICHELE, F. SANTORELLI, A. FILLA (Napoli, Pisa)746. GENETIC ASPECTS OF DRAVET SYNDROME IN SOUTHERN ITALYM. GAGLIARDI, P. TARANTINO, F. CAVALCANTI, M. SESTA, P. CONTI, D. GALEONE,G. TORTORELLA, A. LABATE, M. CARACCIOLO, T. MIRANTE, A. BAGALÀ, A.QUATTRONE, G. ANNESI, A. GAMBARDELLA (Cosenza, Bari, Messina, Catanzaro)747. CARRIERS OF FRIEDREICH ATAXIA MUTATION: PREVALENCE IN LAZIOREGION AND PRACTICAL IMPLICATIONSC. MARCOTULLI (Latina)748. THE ANTICHOLINESTERASES: DRUGS AND VENOMSF. SANTORO (Palermo)749. COEXISTENCE OF MTDNA COI MUTATION AND AARS2 MUTATIONSIN LEUKOENCEPHALOPATHY WITH CEREBELLAR ATAXIAD. DIODATO, C. LAMPERTI, F. CARRARA, E. LAMANTEA, D. GHEZZI, M. ZEVIANI(Milano)750. IDENTIFICATION AND FUNCTIONAL CHARACTERIZATION OF NOVELFUNCTIONAL ALLELES IN THE PROMOTER REGION OF THE SEROTONINTRANSPORTER GENES. IURESCIA, M. RINALDI, A. PILOTTO, G. PARONI, E. DE DOMINICIS, C. GRAVINA,M. URBANO, B. BORRONI, A. PADOVANI, D. SERIPA (Roma, Brescia, San GiovanniRotondo - FG)9OTTOBRE•AREAPOSTER191