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14 results on '"Venerando, Anna"'

5. A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

Author

Furlan, Francesca, Rovelli, Attilio, Rigoldi, Miriam, Filocamo, Mirella, Tappino, Barbara, Friday, Douglas, Gasperini, Serena, Mariani, Silvana, Izzi, Claudia, Bondioni, Maria Pia, Gellera, Cinzia, Venerando, Anna, Villa, Nicoletta, del Carmen Rodriguez Perez, Maria, Pavan, Fabio, Biondi, Andrea, and Parini, Rossella

Published
2018
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6. Identification of a cytokine profile in serum and cerebrospinal fluid of pediatric and adult spinal muscular atrophy patients and its modulation upon nusinersen treatment

Author

Bonanno, Silvia, primary, Cavalcante, Paola, additional, Salvi, Erika, additional, Giagnorio, Eleonora, additional, Malacarne, Claudia, additional, Cattaneo, Marco, additional, Andreetta, Francesca, additional, Venerando, Anna, additional, Pensato, Viviana, additional, Gellera, Cinzia, additional, Zanin, Riccardo, additional, Arnoldi, Maria Teresa, additional, Dosi, Claudia, additional, Mantegazza, Renato, additional, Masson, Riccardo, additional, Maggi, Lorenzo, additional, and Marcuzzo, Stefania, additional

Published
2022
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7. Dysregulation of myomiRs as common pathogenic feature associated with muscle atrophy in ALS, SMA and SBMA: Evidence from animal models and human patients

Author

Malacarne, Claudia, Galbiati, Mariarita, Giagnorio, Eleonora, Cavalcante, Paola, Salerno, Franco, Andreetta, Francesca, Cagnoli, Cinzia, Taiana, Michela, Nizzardo, Monica, Corti, Stefania, Pensato, Viviana, Venerando, Anna, Gellera, Cinzia, Fenu, Silvia, Pareyson, Davide, Masson, Riccardo, Maggi, Lorenzo, Bella, Eleonora Dalla, Lauria, Giuseppe, Mantegazza, Renato, Poletti, Angelo, Bonanno, Silvia, and Marcuzzo, Stefania

Published
2021
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8. Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients

Author

Malacarne, Claudia, primary, Galbiati, Mariarita, additional, Giagnorio, Eleonora, additional, Cavalcante, Paola, additional, Salerno, Franco, additional, Andreetta, Francesca, additional, Cagnoli, Cinza, additional, Taiana, Michela, additional, Nizzardo, Monica, additional, Corti, Stefania, additional, Pensato, Viviana, additional, Venerando, Anna, additional, Gellera, Cinzia, additional, Fenu, Silvia, additional, Pareyson, Davide, additional, Masson, Riccardo, additional, Maggi, Lorenzo, additional, Dalla Bella, Eleonora, additional, Lauria, Giuseppe, additional, Mantegazza, Renato, additional, Bernasconi, Pia, additional, Poletti, Angelo, additional, Bonanno, Silvia, additional, and Marcuzzo, Stefania, additional

Published
2021
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9. Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients

Author

Bonanno, Silvia, primary, Marcuzzo, Stefania, additional, Malacarne, Claudia, additional, Giagnorio, Eleonora, additional, Masson, Riccardo, additional, Zanin, Riccardo, additional, Arnoldi, Maria Teresa, additional, Andreetta, Francesca, additional, Simoncini, Ornella, additional, Venerando, Anna, additional, Gellera, Cinzia, additional, Pantaleoni, Chiara, additional, Mantegazza, Renato, additional, Bernasconi, Pia, additional, Baranello, Giovanni, additional, and Maggi, Lorenzo, additional

Published
2020
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10. Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes

Author

Castellotti, B, Ragona, F, Freri, E, Solazzi, R, Ciardullo, S, Tricomi, G, Venerando, A, Salis, B, Canafoglia, L, Villani, F, Franceschetti, S, Nardocci, N, Gellera, C, Difrancesco, J, Granata, T, Castellotti, Barbara, Ragona, Francesca, Freri, Elena, Solazzi, Roberta, CIARDULLO, STEFANO, Tricomi, Giovanni, Venerando, Anna, Salis, Barbara, Canafoglia, Laura, Villani, Flavio, Franceschetti, Silvana, Nardocci, Nardo, Gellera, Cinzia, DiFrancesco, Jacopo C., Granata, Tiziana, Castellotti, B, Ragona, F, Freri, E, Solazzi, R, Ciardullo, S, Tricomi, G, Venerando, A, Salis, B, Canafoglia, L, Villani, F, Franceschetti, S, Nardocci, N, Gellera, C, Difrancesco, J, Granata, T, Castellotti, Barbara, Ragona, Francesca, Freri, Elena, Solazzi, Roberta, CIARDULLO, STEFANO, Tricomi, Giovanni, Venerando, Anna, Salis, Barbara, Canafoglia, Laura, Villani, Flavio, Franceschetti, Silvana, Nardocci, Nardo, Gellera, Cinzia, DiFrancesco, Jacopo C., and Granata, Tiziana

Abstract

Glucose transporter type 1 deficiency syndrome (Glut1 DS) is a rare neurological disorder caused by impaired glucose delivery to the brain. The clinical spectrum of Glut1 DS mainly includes epilepsy, paroxysmal dyskinesia (PD), developmental delay and microcephaly. Glut1 DS diagnosis is based on the identification of hypoglycorrhachia and pathogenic mutations of the SLC2A1 gene. Here, we report the molecular screening of SLC2A1 in 354 patients clinically suspected for Glut1 DS. From this cohort, we selected 245 patients for whom comprehensive clinical and laboratory data were available. Among them, we identified 19 patients carrying nucleotide variants of pathological significance, 5 of which were novel. The symptoms of onset, which varied from neonatal to adult age, included epilepsy, PD or non-epileptic paroxysmal manifestations. The comparison of the clinical features between the 19 SLC2A1 mutated and the 226 non-mutated patients revealed that the onset of epilepsy within the first year of life (when associated with developmental delay or other neurological manifestations), the association of epilepsy with PD and acquired microcephaly are more common in mutated subjects. Taken together, these data confirm the variability of expression of the phenotypes associated with mutation of SLC2A1 and provide useful clinical tools for the early identification of subjects highly suspected for the disease

Published
2019

11. Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim–Chester disease

Author

Chiapparini, Luisa, primary, Cavalli, Giulio, additional, Langella, Tiziana, additional, Venerando, Anna, additional, De Luca, Giacomo, additional, Raspante, Sergio, additional, Marotta, Giorgio, additional, Pollo, Bianca, additional, Lauria, Giuseppe, additional, Cangi, Maria Giulia, additional, Gerevini, Simonetta, additional, Botturi, Andrea, additional, Pareyson, Davide, additional, Dagna, Lorenzo, additional, and Salsano, Ettore, additional

Published
2017
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14. Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim-Chester disease

Author

Luisa Chiapparini, Lorenzo Dagna, Davide Pareyson, Anna Venerando, Sergio Raspante, Tiziana Langella, Giulio Cavalli, Andrea Botturi, Simonetta Gerevini, Maria Giulia Cangi, Ettore Salsano, Giacomo De Luca, Giorgio Marotta, Giuseppe Lauria, Bianca Pollo, Chiapparini, Luisa, Cavalli, Giulio, Langella, Tiziana, Venerando, Anna, de Luca, Giacomo, Raspante, Sergio, Marotta, Giorgio, Pollo, Bianca, Lauria, Giuseppe, Cangi, Maria Giulia, Gerevini, Simonetta, Botturi, Andrea, Pareyson, Davide, Dagna, Lorenzo, and Salsano, Ettore

Subjects
Adult, Brain Infarction, Male, medicine.medical_specialty, Pathology, Erdheim-Chester Disease, Neurology, Indoles, Antineoplastic Agents, Erdheim–Chester disease, Imaging, Leukoencephalopathy, White matter, 03 medical and health sciences, 0302 clinical medicine, Leukoencephalopathies, White matter lesion, Cerebellum, medicine, Humans, Longitudinal Studies, Sulfonamides, Cerebellar ataxia, medicine.diagnostic_test, business.industry, Leukodystrophy, Middle Aged, medicine.disease, Histiocytosi, Magnetic Resonance Imaging, Histiocytosis, medicine.anatomical_structure, Bone scintigraphy, Vemurafenib, 030220 oncology & carcinogenesis, Erdheim–Chester disease, Female, Neurology (clinical), medicine.symptom, business, Tomography, X-Ray Computed, 030217 neurology & neurosurgery, Brain Stem
Abstract

Background: Leukoencephalopathies with prominent involvement of cerebellum and brainstem, henceforward called prominent infratentorial leukoencephalopathies (PILs), encompass a variety of inherited and acquired white matter diseases. Erdheim–Chester disease (ECD) is a rare non-Langerhans cell histiocytosis likely under-diagnosed as cause of adult PIL. Methods: We reviewed the clinical and laboratory information of ten consecutive sporadic adult patients with PIL of unknown origin, who were investigated for ECD. Results: There were seven males and three females; mean age at clinical onset was 49.6 years (range 38–59); cerebellar ataxia with or without other neurological symptoms was the only or the main clinical manifestation; diabetes insipidus was present in three individuals. Eight patients had white matter focal supratentorial abnormalities, in addition to the infratentorial white matter changes. Six out of eight patients had spinal cord lesions. Thoraco-abdominal CT showed periaortic sheathing in two patients, whole-body FDG-PET revealed increased glucose uptake in the long bones of the legs in five patients, brain FDG-PET showed overt infratentorial hypermetabolism in one patient. In eight patients, ECD was confirmed by bone scintigraphy, pathological data, or both. Two ECD patients treated with vemurafenib showed a marked improvement of neurological symptoms and brain MRI abnormalities at 1 year follow-up. Conclusions: Symptoms of PIL can be the only clinical manifestation of ECD. Adult patients with PIL of unknown origin should undergo investigations aimed at unveiling ECD, including bone scintigraphy and whole-body FDG-PET. The early diagnosis allows starting disease-modifying therapies of an otherwise life-threatening disease.

Published
2017

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