3 N O V E M B R E • COMUNICAZIONI ORALI: MALATTIE CEREBROVASCOLARI 1 ore 11.00 - 13.00 Moderatori E. AGOSTONI (Milano) - A. CAROLEI (L’Aquila) 12.30 MIGRAINE AND HEMORRHAGIC STROKE: A META-ANALYSIS OF 321,101 SUBJECTS P. RIPA, R. ORNELLO, F. PISTOIA, A. CAROLEI, S. SACCO (L’Aquila) 12.45 MOLECULAR CORRELATES OF NEUROIMAGING FINDINGS IN ACUTE ISCHEMIC STROKE: EARLY OXIDATIVE STRESS BIOMARKERS OF ISCHEMIC PENUMBRA S. LORENZANO, N. ROST, H. LI, A. CHUTINET, R. GREEN, T. THANKACHAN, B. THORNELL, K. ARAI, O. WU, G. HARRIS, E. LO, J. BLUMBERG, S. FESKE, K. FURIE (Boston - USA, Roma) S A L A B L U 1 13.00 - 14.30 Pausa pranzo con poster 40
COMUNICAZIONI ORALI: NEUROGENETICA 1 ore 11.00 - 13.00 Moderatori M.T. DOTTI (Siena) - A. FILLA (Napoli) 11.00 AFG3L2/SPG7 CONCURRENT MUTATIONS CAUSE A COMPLEX EARLY-ONSET OPTIC ATROPHY/ATAXIA/EXTRAPYRAMIDAL PHENOTYPE WITH MITO- CHONDRIAL DYSFUNCTION AND FRAGMENTATION IN PATIENT’S CELLS S. MAGRI, V. FRACASSO, C. PANTALEONI, M. PLUMARI, C. GELLERA, M. MUZI FALCONI, S. DE BIASI, A. POLETTI, D. DI BELLA, F. TARONI (Milano) 11.15 GENETIC COUNSELLING IN ALS: FACTS, UNCERTAINTIES AND RECOMMENDATIONS A. CHIÒ, G. MORA, M. SABATELLI, S. BATTISTINI, M. CORBO, C. CAPONNETTO, P. MANDICH, S. PENCO, L. CONFORTI, M. ZOLLINO, G. RESTAGNO, A. SURBONE, ITAL- SGEN CONSORTIUM (Torino, Milano, Roma, Siena, Genova, Cosenza, New York - USA) 11.30 FBXL4 IS A MITOCHONDRIAL PROTEIN THAT IS MUTATED IN EARLY- ONSET MITOCHONDRIAL ENCEPHALOMYOPATHY D. GHEZZI, X. GAI, M. JOHNSON, C. BIAGOSCH, H. SHAMSELDIN, T. HAACK, F. FURLAN, R. PARINI, C. LAMPERTI, H. PROKISCH, F. ALKURAYA, M. FALK, M. ZEVIANI (Milano, Maywood - USA, Cambridge - UK, Monaco-D, Riyadh - SA, Monza, Philadelphia - USA) 11.45 COPPER DISOMEOSTASIS AND INTRONIC RS2147363 VARIANT IN ATP7B TRANSCRIPTION FACTOR-BINDING SITE ASSOCIATED WITH ALZHEIMER’S DISEASE L. TROTTA, A. CALLEA, S. BUCOSSI, R. POLIMANTI, M. VENTRIGLIA, S. MARIANI, M. SIOTTO, F. URSINI, F. SCRASCIA, R. SQUITTI, F. VERNIERI (Roma, Milano) 12.00 TREX1 C-TERMINAL FRAMESHIFT MUTATIONS IN HEREDITARY SYSTEMIC ANGIOPATHY J.C. DI FRANCESCO, F. NOVARA, O. ZUFFARDI, A. FORLINO, R. GIOIA, F. COSSU, M. BOLOGNESI, S. ANDREONI, E. SARACCHI, B. FRIGENI, M. TOLNAY, D. WINKLER, M. SAVOIARDO, P. REMIDA, G. ISIMBALDI, C. FERRARESE (Monza, Pavia, Milano, Basel - CH) 12.15 THREE NEW MUTATIONS IN CSF1R GENE IN 3 ITALIAN PATIENTS WITH HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS S. BIANCHI, I. DI DONATO, I. TAGLIA, G. GALLUS, C. STABILE, A. RUFA, C. BATTISTI, M. DOTTI, A. FEDERICO (Siena) 12.30 A NEXT GENERATION SEQUENCING STUDY IN AN ITALIAN MS MULTIPLEX FAMILY REVEALS A NOVEL GENETIC VARIANT IN GRAMD1B F. ESPOSITO, D. CITTARO, M. SOROSINA, A. CALABRIA, A. OSICEANU, D. LAZAREVIC, V. MASELLI, P. BRAMBILLA, R. CAPRA, E. STUPKA, G. COMI, F. MARTINELLI BONESCHI (Milano, Brescia) 12.45 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA CAUSED BY MUTATION IN THE CYP7B1 GENE (SPG5): REPORT OF A NEW ITALIAN CASE CHARACTERIZED BY ADULT ONSET AND SEVERE DORSAL COLUMN IMPAIRMENT A. VANOTTI, L. NANETTI, E. SARTO, D. DI BELLA, F. TARONI, C. MARIOTTI (Milano) 3 N O V E M B R E • S A L A B L U 2 13.00 - 14.30 Pausa pranzo con poster 41