XL Congresso Società Italiana di Neurologia PADOVA 21-25 ...

COMUNICAZIONI ORALI: NEUROGENETICA 1
ore 11.30 - 13.30
Moderatori
N. BRESOLIN (Milano) - M. ZEVIANI (Milano)
11.30 AFG3L2 MUTATIONS CAUSE AUTOSOMAL DOMINANT ATAXIA SCA28
AND REVEAL AN ESSENTIAL ROLE OF THE MITOCHONDRIAL M-AAA
AFG3L2 HOMOCOMPLEX IN THE CEREBELLUM
D. DI BELLA, F. LAZZARO, A. BRUSCO, G. BATTAGLIA, A. PASTORE, A. FINARDI,
V. FRACASSO, S. MAGRI, M. PLUMARI, C. CAGNOLI, F. TEMPIA, A. BRUSSINO,
C. GELLERA, C. MARIOTTI, P. PLEVANI, S. DI DONATO, T. LANGER, M. MUZI-
FALCONI, F. TARONI (Milano, Torino, Londra - UK, Köln - D)
11.45 EARLY-ONSET SCA2 : CLINICAL AND GENETIC CONSIDERATIONS
C. CASALI, R. DI FABIO, K. MICHAILIDIS, A. TESSA, M. LE ROSE, E. BERTINI,
F. PIERELLI, F. SANTORELLI (Roma)
12.00 A CASE OF SPINOCEREBELLAR ATAXIA TYPE 17 (SCA 17)
S. PAGLIONICO, D. BOSCO, M. SALSONE, M. MORELLI, F. NOVELLINO, G. ARABIA,
D. MESSINA, G. NICOLETTI, G. ANNESI, A. QUATTRONE (Catanzaro, Piano Lago di
Mangone - CS, Crotone)
12.15 SPINOCEREBELLAR ATAXIA TYPE 15: CLINICAL AND MOLECULAR-
GENETIC FEATURES OF TWO ITALIAN FAMILIES
G. VAULA, M. GODANI, E. DI GREGORIO, A. BRUSCO, A. BRUSSINO, C. CAGNOLI,
S. JENSEN, E. SALMON, G. FERRARI, L. PINESSI, L. ORSI (Torino, La Spezia, Carrara,
Liegi - B, Ivrea - TO)
12.30 SINGLE-CENTER, OPEN-LABEL, SEQUENTIAL TRIAL TO TEST THE
EFFICACY, SAFETY AND TOLLERABILITY OF EPOETIN ALFA IN PATIENTS
WITH FRIEDREICH’S ATAXIA
F. SACCÀ, A. GUACCI, R. PIRO, A. ANTENORA, G. PUORRO, A. DENARO, A. MARSILI,
F. ACQUAVIVA, S. COCOZZA, G. DE MICHELE, A. FILLA (Napoli)
12.45 OUTCOME AFTER TWO YEARS OF ENZYME REPLACEMENT THERAPY
(ERT) IN 29 PATIENTS WITH LATE-ONSET TYPE II GLYCOGENOSIS
(GSDII)
S. RAVAGLIA, B. BEMBI, M. ROSSI, G. PICCOLO, A. PICHIECCHIO, A. REPETTO,
M. GRANDIS, A. COSTA, C. DANESINO, A. MOGLIA (Pavia, Udine, Genova)
13.00 NEUROLOGICAL MANIFESTATIONS IN THE ATRX SYNDROME
S. A. MUSUMECI, G.A. VITELLO, C. SCUDERI, S.G. ROMANO, C. BARONE, M. ELIA,
M. FICHERA, M. LO GIUDICE, E. BORGIONE (Troina - EN)
13.15 GAIN OF GLYCOSYLATION AS A POSSIBLE MECHANISM OF MYELIN
PROTEIN ZERO MUTATIONS
M. GRANDIS, S. SCAZZOLA, M. BONO, M. PASSALACQUA, P. LUZZI, E. BELLONE,
G. MANCARDI, P. MANDICH, M. SHY, A. SCHENONE (Genova, Detroit - USA)
13.30 - 14.30 Pausa pranzo
25
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