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5 N O V E M B R E • A R E A P O S T E R 802. FREQUENCY OF SPATACSIN (SPG11) AND SPASTIZIN (SPG15) MUTATIONS IN A LARGE COHORT OF ITALIAN PATIENTS WITH SPASTIC PARAPLEGIA, THIN CORPUS CALLOSUM, AND WHITE MATTER LESIONS C. MARIOTTI, V. PENSATO, B. CASTELLOTTI, E. SARTO, D. DI BELLA, L. NANETTI, D. PAREYSON, E. SALSANO, M. EOLI, C. CIANO, F. TARONI, C. GELLERA (Milano) 803. MOTOR NEURON-LIKE DISEASE IN A CASE OF LATE ONSET TRIPLE A SYNDROME S. BONATO, L. BORELLINI, D. RONCHI, A. DI FONZO, E. FRATTINI, N. AHMED, M. RANGO, A. ARIGHI, N. BRESOLIN (Milano) 804. GENETIC HETEROGENEITY OF CHARCOT-MARIE-TOOTH DISEASE TYPE 2 AND DISTAL HEREDITARY MOTOR (DHMN) AND (CMT2); REPORT OF A SYSTEMATIC MOLECULAR SCREENING M. FERRARINI, F. TAIOLI, S. FERRARI, T. CAVALLARO, G. FABRIZI (Verona) 805. ADULT-ONSET ALEXANDER DISEASE DUE TO GFAP- MUTATION AND MODULATED BY A NON-NEUTRAL HDAC6 VARIANT L. MELCHIONDA, V. FUGNANESI, M. MORBIN, I. FARINA, F. SAVOIARDO, C. LAMPERTI, I. CECCHERINI, A. COSTA, S. RAVAGLIA, D. GHEZZI, M. ZEVIANI (Milano, Genova, Pavia) 806. EARLY ONSET ENCEPHALOPATHY, LACTIC ACIDOSIS AND SEVERE REDUCTION OF MITOCHONDRIAL COMPLEX III ACTIVITY DUE TO A HOMOZYGOUS MUTATION IN LYRM7/MZM1L F. INVERNIZZI, M. TIGANO, C. DALLABONA, C. DONNINI, C. FERRERO, M. CREMONTE, D. GHEZZI, C. LAMPERTI, E. FERNANDEZ-VIZARRA, M. ZEVIANI (Milano, Parma, Alessandria, Cambridge - UK) 807. PROGRESSIVE EXTERNAL OPHTALMOPLEGIA IN A PATIENT WITH BOTH A TWINKLE MUTATION AND A NOVEL POLG1 VARIATION: A CASE OF DIGENIC INHERITANCE P. DA POZZO, A. RUBEGNI, A. RUFA, E. CARDAIOLI, I. TAGLIA, G. GALLUS, C. BATTISTI, A. MALANDRINI, A. FEDERICO (Siena) 808. A NOVEL KIF5A MUTATION IN AN APULIAN FAMILY MARKED BY SPASTIC PARAPARESIS AND CONGENITAL DEAFNESS E. D’ERRICO, L. CITRIGNO, R. TORTELLI, E. DISTASO, A. MAGARIELLO, A. GASPARRO, A. SCARAFINO, A. PATITUCCI, M. MUGLIA, I. SIMONE (Bari, Mangone - CS) 809. LATE-ONSET FRIEDREICH ATAXIA: FREQUENCY, CLINICAL CHARACTERISTICS, AND CHALLENGING DIFFERENTIAL DIAGNOSIS IN 21 ITALIAN CASES M. PANZERI, A. VANOTTI, L. NANETTI, A. CASTUCCI, C. GELLERA, F. TARONI, C. MARIOTTI (Milano) 810. SIMPSON- GOLABI- BEHMEL SYNDROME: COGNITIVE, BEHAVIOURAL AND SPEECH DISABILITY IN A RARE OVERGROWTH DISORDER. CASE REPORT M. PACE, N. CARLINO (Vasto Marina - CH) 811. PROGRANULIN MUTATION CYS 139ARG: IS THE PATHOGENIC NATURE UNCLEAR I. PIACERI, S. PRADELLA, C. POLITO, S. BAGNOLI, L. BERNARDI, A. BRUNI, A. TEDDE, S. SORBI, B. NACMIAS (Firenze, Lamezia Terme - CZ) 812. FAMILIAR AMYOTROFIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEMENTIA ASSOCIATED WITH C90RF72 HEXANUCLEOTIDE REPEAT EXPANSION P. BANFI, E. AMBROSONI, V. MARIANI, G. CAFASSO, G. BONO (Varese) 196
813. INCOMPLETE PENETRANCE OF THE C9ORF72 HEXANUCLEOTIDE REPEAT EXPANSION:FREQUENCY IN A COHORT OF GERIATRIC NON DEMENTED SUBJECTS S.M.G. CIOFFI, C. FENOGLIO, M. SERPENTE, B. AROSIO, C. VILLA, R. BONSI, C. BARONE, E. RIDOLFI, P. ROSSI, C. ABBATE, D. MARI, E. SCARPINI, D. GALIMBERTI (Milano) 814. LGI1 MICRODELETIONS ARE NOT A FREQUENT CAUSE OF PARTIAL EPILEPSY WITH AUDITORY FEATURES (PEAF) C. STIPA, F. BISULLI, P. MAGINI, S. BALDASSARI, I. NALDI, L. LICCHETTA, V. MENGHI, M. SERI, T. PIPPUCCI, P. TINUPER (Bologna) 815. VAGAL ATRIAL FIBRILLATION PRECEDING BILATERAL CARPAL TUNNEL SYNDROME AS CLINICAL PRESENTATION OF GLU89GLN TTR MUTATION L. PRADOTTO, L. ORSI, A. MILESI, E. MURA, L. SELLITTI, A. MAURO (Milano, Torino) 816. HEREDITARY MOTOR AND SENSORY NEUROPATHY-RUSSE (HMSN-R): THE FIRST ITALIAN GYPSY FAMILY M. FERRARINI, M. ZIMON, A. JORDANOVA, T. CAVALLARO, S. FERRARI, F. TAIOLI, L. BERTOLASI, C. FONTANA, G. FABRIZI (Verona, Antwerp - NL) 817. AXIAL DOPA-RESPONSIVE DYSTONIA AS FIRST SYMPTOM OF PARK2 L. PRADOTTO, M. MENCARELLI, A. MILESI, G. ALBANI, A. MAURO (Milano, Torino) 818. NO EVIDENCE FOR A ROLE OF NOL3 GENE IN ITALIAN FAMILIES WITH FAMILIAL ADULT MYOCLONIC EPILEPSY OR ESSENTIAL TREMOR P. TARANTINO, G. ANNESI, M. GAGLIARDI, A. LABATE, E. FERLAZZO, U. AGUGLIA, A. QUATTRONE, A. GAMBARDELLA (Cosenza, Catanzaro, Reggio Calabria) 5 N O V E M B R E • A R E A P O S T E R 197
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