programma definitivo - Società italiana di neurologia

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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)
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