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

COMUNICAZIONI ORALI: NEUROGENETICA 3
ore 11.30 - 13.30
Moderatori
G. DI IORIO (Napoli) - S. MONACO (Verona)
11.30 REPLICATION PHASE OF A WHOLE-GENOME ASSOCIATION STUDY IN
PROGRESSIVE FORMS OF MULTIPLE SCLEROSIS
F. MARTINELLI BONESCHI, F. ESPOSITO, P. BRAMBILLA, J. WOJCIK, A. GHEZZI,
R. CAPRA, M. RODEGHER, V. MARTINELLI, B. COLOMBO, L. MOIOLA, E. LINDSTROM,
T. KILPATRICK, B. TAYLOR, J. HILLERT, J. RUBIO, H. ABDERRAHIM, G. COMI (Milano,
Genova, Gallarate - VA, Brescia, Milano, Huddinge - S, Melbourne - AUS)
11.45 SDHAF1, A LYR COMPLEX-II SPECIFIC ASSEMBLY FACTOR, IS MUTATED
IN SDH-DEFECTIVE INFANTILE LEUKOENCEPHALOPATHY
M. ZEVIANI, D. GHEZZI, P. GOFFRINI, G. UZIEL, R. HORVATH, P. D'ADAMO,
F. INVERNIZZI (Milano, Parma, Newcastle - UK, Trieste)
12.00 PECULIAR DISTRIBUTION OF NOTCH3 MUTATIONS IN A LARGE
COHORT OF ITALIAN CADASIL PATIENTS: CONFIRMATION OF THE
ORIGINAL REPORT
S. BIANCHI, C. D'ERAMO, E. ZICARI, F. PESCINI, L. PANTONI, D. INZITARI, A. FEDERICO,
M. DOTTI (Siena, Firenze)
12.15 AN INTRONIC DELETION IN THE PUTATIVE BRANCH POINT SEQUENCE
OF INTRON 3 OF NOTCH3 GENE AS THE CAUSE OF ABNORMAL SPLICING
IN A CADASIL PATIENT
S. BIANCHI, C. D'ERAMO, E. TARQUINI, A. BRUNI, M. DOTTI, A. FEDERICO (Siena,
Lamezia Terme - CZ)
12.30 GENETIC VARIATION OF CYP19 (AROMATASE) GENE INFLUENCES AGE
AT ONSET OF ALZHEIMER'S DISEASE IN WOMEN
G. GAMBINA, R. CORBO, E. BROGGIO, L. ULIZZI, R. SCACCHI, G. MORETTO
(Verona, Roma)
12.45 FRONTOTEMPORAL DEMENTIA IN 2 FAMILIES WITH TARDBP A382T
MUTATION
A. CHIÒ, A. MONTUSCHI, E. MASTRO, G. RESTAGNO, A. CISTARO, C. MOGLIA,
A. CALVO, A. TICCA, R. MUTANI, M. BRUNETTI, I. OSSOLA, A. CANOSA, M. BALMA,
M. MARROSU, G. BORGHERO (Torino, Nuoro, Cagliari)
13.00 APP A713T MUTATION IN LATE ONSET ALZHEIMER'S DISEASE WITH
CEREBROVASCULAR LESIONS
G. PUCCIO, L. BERNARDI, S. GERACITANO, R. COLAO, M. GALLO, M. ANFOSSI,
F. FRANGIPANE, S. CURCIO, M. MIRABELLI, C. TOMAINO, F. VASSO, N. SMIRNE,
R. MALETTA, A. BRUNI (Lamezia Terme - CZ)
13.15 FRONTAL PHENOTYPE IN A PATIENT WITH ALZHEIMER’S DISEASE
LINKED TO A NOVEL PSEN1 MUTATION
M. GALLO, N. MARCELLO, S. CURCIO, R. COLAO, G. PUCCIO, L. BERNARDI,
S. GERACITANO, M. ANFOSSI, F. FRANGIPANE, A. CLODOMIRO, M. MIRABELLI,
F. VASSO, N. SMIRNE, G. MURACA, R. DI LORENZO, O. BUGIANI, G. GIACCONE,
R. MALETTA, A. BRUNI (Lamezia Terme - CZ, Reggio Emilia, Milano)
13.30 - 14.30 Pausa pranzo
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