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10 results on '"Maccagnano, Carmelo"'

1. Role of NODDI in the MRI Characterization of Hippocampal Abnormalities in Temporal Lobe Epilepsy

Author

Giachetti, Isabella, primary, Padelli, Francesco, additional, Aquino, Domenico, additional, Garbelli, Rita, additional, De Santis, Dalia, additional, Rossini, Laura, additional, Deleo, Francesco, additional, Pascuzzo, Riccardo, additional, Coras, Roland, additional, Marucci, Gianluca, additional, Tringali, Giovanni, additional, Maccagnano, Carmelo, additional, De Curtis, Marco, additional, Bruzzone, Maria Grazia, additional, and Didato, Giuseppe, additional

Published
2022
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2. Hypomyelinating leukodystrophies in adults: Clinical and genetic features

Author

Di Bella, Daniela, primary, Magri, Stefania, additional, Benzoni, Chiara, additional, Farina, Laura, additional, Maccagnano, Carmelo, additional, Sarto, Elisa, additional, Moscatelli, Marco, additional, Baratta, Silvia, additional, Ciano, Claudia, additional, Piacentini, Sylvie H. M. J., additional, Draghi, Lara, additional, Mauro, Elena, additional, Pareyson, Davide, additional, Gellera, Cinzia, additional, Taroni, Franco, additional, and Salsano, Ettore, additional

Published
2020
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6. Hypomyelinating leukodystrophies in adults: Clinical and genetic features.

Author

Di Bella, Daniela, Magri, Stefania, Benzoni, Chiara, Farina, Laura, Maccagnano, Carmelo, Sarto, Elisa, Moscatelli, Marco, Baratta, Silvia, Ciano, Claudia, Piacentini, Sylvie H. M. J., Draghi, Lara, Mauro, Elena, Pareyson, Davide, Gellera, Cinzia, Taroni, Franco, and Salsano, Ettore

Subjects
CHROMOSOME duplication, LEUKODYSTROPHY, X chromosome, GENES, GENETIC testing, MAGNETIC resonance imaging
Abstract

Background and purpose: Little is known about hypomyelinating leukodystrophies (HLDs) in adults. The aim of this study was to investigate HLD occurrence, clinical features, and etiology among undefined leukoencephalopathies in adulthood. Methods: We recruited the patients with cerebral hypomyelinating magnetic resonance imaging pattern (mild T2 hyperintensity with normal or near‐normal T1 signal) from our cohort of 62 adult index cases with undefined leukoencephalopathies, reviewed their clinical features, and used a leukoencephalopathy‐targeted next generation sequencing panel. Results: We identified 25/62 patients (~40%) with hypomyelination. Cardinal manifestations were spastic gait and varying degree of cognitive impairment. Etiology was determined in 44% (definite, 10/25; likely, 1/25). Specifically, we found pathogenic variants in the POLR3A (n = 2), POLR1C (n = 1), RARS1 (n = 1), and TUBB4A (n = 1) genes, which are typically associated with severe early‐onset HLDs, and in the GJA1 gene (n = 1), which is associated with oculodentodigital dysplasia. Duplication of a large chromosome X region encompassing PLP1 and a pathogenic GJC2 variant were found in two patients, both females, with early‐onset HLDs persisting into adulthood. Finally, we found likely pathogenic variants in PEX3 (n = 1) and PEX13 (n = 1) and potentially relevant variants of unknown significance in TBCD (n = 1), which are genes associated with severe, early‐onset diseases with central hypomyelination/dysmyelination. Conclusions: A hypomyelinating pattern characterizes a relevant number of undefined leukoencephalopathies in adulthood. A comprehensive genetic screening allows definite diagnosis in about half of patients, and demonstrates the involvement of many disease‐causing genes, including genes associated with severe early‐onset HLDs, and genes causing peroxisome biogenesis disorders. [ABSTRACT FROM AUTHOR]

Published
2021
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8. Prospective study of carmustine wafers in combination with 6-month metronomic temozolomide and radiation therapy in newly diagnosed glioblastoma: preliminary results

Author

Salmaggi, Andrea, primary, Milanesi, Ida, additional, Silvani, Antonio, additional, Gaviani, Paola, additional, Marchetti, Marcello, additional, Fariselli, Laura, additional, Solero, Carlo Lazzaro, additional, Maccagnano, Carmelo, additional, Casali, Cecilia, additional, Guzzetti, Sara, additional, Pollo, Bianca, additional, Ciusani, Emilio, additional, and DiMeco, Francesco, additional

Published
2013
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10. Association of chromosome 10 losses and negative prognosis in oligoastrocytomas

Author

Bissola, Lorena, primary, Eoli, Marica, additional, Pollo, Bianca, additional, Merciai, Bianca Maria, additional, Silvani, Antonio, additional, Salsano, Ettore, additional, Maccagnano, Carmelo, additional, Bruzzone, Maria Grazia, additional, Fuhrman Conti, Anna Maria, additional, Solero, Carlo Lazzaro, additional, Giombini, Sergio, additional, Broggi, Giovanni, additional, Boiardi, Amerigo, additional, and Finocchiaro, Gaetano, additional

Published
2002
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