programma definitivo - Società italiana di neurologia
programma definitivo - Società italiana di neurologia
programma definitivo - Società italiana di neurologia
Create successful ePaper yourself
Turn your PDF publications into a flip-book with our unique Google optimized e-Paper software.
COMUNICAZIONI ORALI: NEUROGENETICA 2<br />
ore 10.00 - 12.00<br />
Moderatori<br />
G. DI IORIO (Napoli) - E. PARATI (Milano)<br />
10.00 EARLY-ONSET OPTIC NEUROPATHY AS INITIAL CLINICAL PRESENTATION<br />
IN SPG7<br />
C. CASALI, C. MARCOTULLI, L. LEONARDI, A. TESSA, R. DI FABIO, F. SANTORELLI, F.<br />
PIERELLI (Latina, Pisa)<br />
10.15 PARAPLEGIN GENE MUTATIONS (SPG7) ARE A FREQUENT CAUSE OF<br />
SPASTIC PARAPLEGIA IN ITALIAN PATIENTS: CLINICAL AND GENETIC<br />
CHARACTERIZATION OF 35 PATIENTS<br />
L. NANETTI, D. DI BELLA, M. PLUMARI, S. MAGRI, V. FRACASSO, D. PAREYSON, M.<br />
PANZERI, G. PISCOSQUITO, E. SALSANO, C. MARIOTTI, F. TARONI (Milano)<br />
10.30 HEREDITARY SPASTIC PARAPLEGIA TYPE 5: A (TREATABLE) DISORDER<br />
OF CHOLESTEROL METABOLISM<br />
A. MIGNARRI, A. MALANDRINI, M. DEL PUPPO, A. MAGNI, L. MONTI, F. GINANNESCHI,<br />
A. TESSA, F. SANTORELLI, A. FEDERICO, M. DOTTI (Siena, Milano, Pisa)<br />
10.45 TWO NEW AMINOACYL TRNA SYNTHETASES ARE RESPONSIBLE FOR<br />
SEVERE INFANTILE MITOCHONDRIAL DISORDERS<br />
D. DIODATO, L. MELCHIONDA, P. BALESTRI, T. GRANATA, I. FERRERO, C. LAMPERTI,<br />
D. GHEZZI, M. ZEVIANI (Milano, Siena, Parma)<br />
11.00 CEREBROTENDINOUS XANTHOMATOSIS: A SCREENING TOOL TO AID<br />
EARLY DIAGNOSIS OF A TREATABLE METABOLIC DISEASE<br />
A. MIGNARRI, G. GALLUS, M. DOTTI, A. FEDERICO (Siena)<br />
11.15 EPIDEMIOLOGIC SURVEY OF A RESTRICTED AREA IN SOUTH-EAST<br />
LAZIO FOR SPINAL AND BULBAR MUSCULAR ATROPHY (SBMA)<br />
C. MARCOTULLI, L. LEONARDI, R. DI FABIO, F. PIERELLI, C. CASALI (Latina)<br />
11.30 SEXUAL FUNCTION EVALUATION IN HEREDITARY SPASTIC PARAPLEGIA-<br />
SPG4<br />
L. LEONARDI, S. HAGGIAG, C. MARCOTULLI, F. PIERELLI, C. CASALI (Latina, Roma)<br />
11.45 NARCOLEPSY IS A COMMON FINDING IN DNMT1-ASSOCIATED DISEASES<br />
K.K. MOGHADAM, F. PIZZA, C. LA MORGIA, C. FRANCESCHINI, C. TONON, P.<br />
BARBONI, M. SERI, R. LIGUORI, R. LODI, V. DONADIO, S. CAPELLARI, F. CORNELIO,<br />
D. INZITARI, A. MIGNARRI, G. CAPOCCHI, M. DOTTI, J. WINKELMANN, L. LIN, E.<br />
MIGNOT, V. CARELLI, G. PLAZZI (Bologna, Milano, Firenze, Siena, Terni, Monaco - D,<br />
Palo Alto - USA)<br />
4<br />
N<br />
O<br />
V<br />
E<br />
M<br />
B<br />
R<br />
E<br />
•<br />
S<br />
A<br />
L<br />
A<br />
G<br />
I<br />
A<br />
L<br />
L<br />
A<br />
2<br />
12.00 - 13.30 Pausa pranzo con poster<br />
75