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944 results on '"LIGUORI, ROCCO"'

8. Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study

Author

Vicino, Alex, Bello, Luca, Bonanno, Silvia, Govoni, Alessandra, Cerri, Federica, Ferraro, Manfredi, Capece, Giuliana, Gadaleta, Giulio, Meneri, Megi, Vacchiano, Veria, Ricci, Giulia, D'Errico, Eustachio, Tramacere, Irene, Banfi, Paolo, Bortolani, Sara, Zanin, Riccardo, Maioli, Maria Antonietta, Silvestrini, Mauro, Previtali, Stefano Carlo, Berardinelli, Angela, Turri, Mara, Coccia, Michela, Mantegazza, Renato, Liguori, Rocco, Filosto, Massimiliano, Siciliano, Gabriele, Simone, Isabella Laura, Mongini, Tiziana, Comi, Giacomo, Pegoraro, Elena, and Maggi, Lorenzo

Published
2023
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9. Effect of tauroursodeoxycholic acid on survival and safety in amyotrophic lateral sclerosis: a retrospective population-based cohort study

Author

Ferri, Laura, Gessani, Annalisa, Liguori, Rocco, Cortelli, Pietro, Michelucci, Roberto, Salvi, Fabrizio, Bartolomei, Ilaria, Borghi, Anna Maria, Zini, Andrea, Rinaldi, Rita, Tugnoli, Valeria, Pugliatti, Maura, Codeluppi, Luca, Valzania, Franco, Stragliati, Filippo, Nuredini, Andi, Romano, Sonia, D'Orsi, Alessandro, Parrino, Liborio, Medici, Doriana, Pilurzi, Giovanna, Terlizzi, Emilio, Guidetti, Donata, De Pasqua, Silvia, Santangelo, Mario, De Massis, Paola, Gizzi, Matteo, Casmiro, Mario, Querzani, Pietro, Morresi, Simonetta, Vitiello, Maria, Longoni, Marco, Patuelli, Alberto, Malagù, Susanna, Bianchi, Francesca, Dossi, Marco Currò, Ganino, Cristiana, Zucchi, Elisabetta, Musazzi, Umberto Maria, Fedele, Guido, Martinelli, Ilaria, Gianferrari, Giulia, Simonini, Cecilia, Fini, Nicola, Ghezzi, Andrea, Caputo, Maria, Sette, Elisabetta, Vacchiano, Veria, Zinno, Lucia, Anceschi, Pietro, Canali, Elena, Vinceti, Marco, Ferro, Salvatore, and Mandrioli, Jessica

Published
2023
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12. Anti-LGI1 encephalitis following COVID-19 vaccination: a case series

Author

Asioli, Gian Maria, Muccioli, Lorenzo, Barone, Valentina, Giacomozzi, Sebastiano, Rossi, Simone, Silvestri, Tania, Spinardi, Luca, Mastrangelo, Vincenzo, Bernabè, Giorgia, Leta, Chiara, Brutto, Mariachiara, Faggiano, Chiara, Liguori, Rocco, Bisulli, Francesca, Longoni, Marco, Tinuper, Paolo, Guarino, Maria, and Cortelli, Pietro

Published
2022
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14. Clinical characteristics of a large cohort of patients with narcolepsy candidate for pitolisant: a cross-sectional study from the Italian PASS Wakix® Cohort

Author

Mutti, Carlotta, Brunetti, Valerio, Figorilli, Michela, Liguori, Claudio, Pizza, Fabio, Proserpio, Paola, Sacco, Tommaso, Pedrazzi, Giuseppe, Lecomte, Isabelle, Blanchard, Nora, Agostoni, Elio Clemente, Bonanni, Enrica, Centonze, Diego, Cicolin, Alessandro, Della Marca, Giacomo, Ferini-Strambi, Luigi, Ferri, Raffaele, Gigli, Gian Luigi, Izzi, Francesca, Liguori, Rocco, Lodi, Raffaele, Nobili, Lino, Parrino, Liborio, Placidi, Fabio, Puligheddu, Monica, Romigi, Andrea, Savarese, Maria Antonietta, Terzaghi, Michele, and Plazzi, Giuseppe

Published
2022
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22. Identifying and predicting amyotrophic lateral sclerosis clinical subgroups: a population-based machine-learning study

Author

Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Manera, Umberto, Vasta, Rosario, Palumbo, Francesca, Bombaci, Alessandro, Grassano, Maurizio, Brunetti, Maura, Casale, Federico, Fuda, Giuseppe, Salamone, Paolina, Iazzolino, Barbara, Peotta, Laura, Cugnasco, Paolo, De Marco, Giovanni, Torrieri, Maria Claudia, Gallone, Salvatore, Barberis, Marco, Sbaiz, Luca, Gentile, Salvatore, Mauro, Alessandro, Mazzini, Letizia, De Marchi, Fabiola, Corrado, Lucia, D'Alfonso, Sandra, Bertolotto, Antonio, Imperiale, Daniele, De Mattei, Marco, Amarù, Salvatore, Comi, Cristoforo, Labate, Carmelo, Poglio, Fabio, Ruiz, Luigi, Testa, Lucia, Rota, Eugenia, Ghiglione, Paolo, Launaro, Nicola, Di Sapio, Alessia, Mandrioli, Jessica, Fini, Nicola, Martinelli, Ilaria, Zucchi, Elisabetta, Gianferrari, Giulia, Simonini, Cecilia, Meletti, Stefano, Liguori, Rocco, Vacchiano, Veria, Salvi, Fabrizio, Bartolomei, Ilaria, Michelucci, Roberto, Cortelli, Pietro, Rinaldi, Rita, Borghi, Anna Maria, Zini, Andrea, Sette, Elisabetta, Tugnoli, Valeria, Pugliatti, Maura, Canali, Elena, Codeluppi, Luca, Valzania, Franco, Zinno, Lucia, Pavesi, Giovanni, Medici, Doriana, Pilurzi, Giovanna, Terlizzi, Emilio, Guidetti, Donata, De Pasqua, Silvia, Santangelo, Mario, De Massis, Patrizia, Bracaglia, Martina, Casmiro, Mario, Querzani, Pietro, Morresi, Simonetta, Longoni, Marco, Patuelli, Alberto, Malagù, Susanna, Currò Dossi, Marco, Vidale, Simone, Ferro, Salvatore, Faghri, Faraz, Brunn, Fabian, Dadu, Anant, Nalls, Michael A, Campbell, Roy H, and Traynor, Bryan J

Published
2022
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23. Self-Induced Stretch Syncope: An Unusual Non-Epileptic Paroxysmal Event. A Case Report and Literature Mini-Review.

Author

Mercante, Anna, Pizza, Fabio, Pondrelli, Federica, Zini, Andrea, Cirillo, Luigi, Tinuper, Paolo, Liguori, Rocco, Migliaccio, Ludovica, Vandi, Stefano, Gobbi, Giuseppe, and Plazzi, Giuseppe

Abstract

Stretch syncope (SS) is a benign, uncommon, distinct condition described mainly in adolescent males. It is responsible for paroxysmal events started by stereotyped stretching actions with neck hyperextension, culminating in alteration of consciousness. Motor manifestations are often present and may be associated with a generalized slowing of the electroencephalographic activity, challenging the diagnosis. Despite a few cases reported in the literature, different mechanisms have been implied in the pathogenesis, involving both local and systemic hemodynamic phenomena. Here, we report on an 8-year-old girl with self-induced SS, providing new insights into the related neurophysiological profile and discussing the possible etiology. Our evidence of transient and dynamic vascular impairment supports the hypothesis of SS as a multifactorial disorder. [ABSTRACT FROM AUTHOR]

Published
2024
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24. Co‐occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber's hereditary optic neuropathy due to DNAJC30 mutations.

Author

Giannoccaro, Maria Pia, Morelli, Luana, Ricciardiello, Fortuna, Donadio, Vincenzo, Bartiromo, Fiorina, Tonon, Caterina, Carbonelli, Michele, Amore, Giulia, Carelli, Valerio, Liguori, Rocco, and La Morgia, Chiara

Abstract

Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by visual loss, and rarely associated with extraocular manifestations including multiple sclerosis‐like lesions. The association of LHON and neuromyelitis optica spectrum disorders has rarely been reported. Here is reported a case of glial fibrillary acidic protein astrocytopathy presenting with area postrema syndrome in a patient with previously diagnosed recessive LHON due to mutations in the nuclear gene DNAJC30. This case emphasizes the necessity of extensive investigations for other treatable conditions in patients with LHON and otherwise unexplained extraocular involvement and the possibility that also visual symptoms can respond to immune therapy. [ABSTRACT FROM AUTHOR]

Published
2024
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27. Intravenous immunoglobulin therapy in COVID-19-related encephalopathy

Author

Muccioli, Lorenzo, Pensato, Umberto, Bernabè, Giorgia, Ferri, Lorenzo, Tappatà, Maria, Volpi, Lilia, Cani, Ilaria, Henry, Olivia J., Ceccaroni, Francesca, Cevoli, Sabina, Stofella, Gloria, Pasini, Elena, Fornaro, Giacomo, Tonon, Caterina, Vidale, Simone, Liguori, Rocco, Tinuper, Paolo, Michelucci, Roberto, Cortelli, Pietro, and Bisulli, Francesca

Published
2021
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28. Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients

Author

Brugnoni, Raffaella, Maggi, Lorenzo, Canioni, Eleonora, Verde, Federico, Gallone, Annamaria, Ariatti, Alessandra, Filosto, Massimiliano, Petrelli, Cristina, Logullo, Francesco Ottavio, Esposito, Marcello, Ruggiero, Lucia, Tonin, Paola, Riguzzi, Pietro, Pegoraro, Elena, Torri, Francesca, Ricci, Giulia, Siciliano, Gabriele, Silani, Vincenzo, Merlini, Luciano, De Pasqua, Silvia, Liguori, Rocco, Pini, Antonella, Mariotti, Caterina, Moroni, Isabella, Imbrici, Paola, Desaphy, Jean-Francois, Mantegazza, Renato, and Bernasconi, Pia

Published
2021
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32. Motor unit number estimation via MScanFit MUNE in spinal muscular atrophy.

Author

Vacchiano, Veria, Morabito, Francesca, Faini, Claudia, Nocera, Giovanna, Not, Riccardo, Scarpini, Gaia, Romagnoli, Martina, Pini, Antonella, and Liguori, Rocco

Abstract

Introduction/Aims: MScanFit MUNE (MScanFit) is a novel tool to derive motor unit number estimates (MUNEs) from compound muscle action potential (CMAP) scans. Few studies have explored its utility in 5q spinal muscular atrophy (SMA5q) patients, assessing only the abductor pollicis brevis (APB) muscle. We aimed to assess different distal muscles in pediatric and adult SMA5q patients, further evaluating clinical‐electrophysiological correlations. Methods: We analyzed MScanFit parameters reflecting the extent of denervation (MUNE; N50) and parameters of collateral reinnervation in APB, abductor digiti minimi (ADM), and tibialis anterior (TA) muscles. SMA patients were clinically evaluated using standardized motor function clinical scales, including the Hammersmith Functional Motor Scale – Expanded and the Revised Upper Limb Module. Results: A total of 23 SMA5q (9 SMA type 2 and 14 SMA type 3) and 12 age‐matched healthy controls (HCs) were enrolled. SMA patients showed lower MUNE and N50 values and higher parameters of collateral sprouting in all muscles compared to HC (p <.001). SMA type 2 patients demonstrated lower MUNE and higher collateral reinnervation values in APB and TA compared to SMA type 3 (p <.05). Walker patients showed higher values of MUNE and N50, and lower parameters of reinnervation in all muscles compared to sitters (p <.05). MScanFit parameters showed strong correlations (Rho‐values ranging from.72 to.83) with clinical measurements. MUNE values were abnormal in muscles that were not clinically affected. Discussion: MScanFit parameters showed promise as an outcome measure. Further studies, particularly longitudinal ones, are needed to evaluate MScanFit in measuring response to treatments. [ABSTRACT FROM AUTHOR]

Published
2024
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33. FADD gene pathogenic variants causing recurrent febrile infection‐related epilepsy syndrome: Case report and literature review.

Author

Giovannini, Giada, Giannoccaro, Maria Pia, Cioclu, Maria Cristina, Orlandi, Niccolò, Liguori, Rocco, and Meletti, Stefano

Subjects
LITERATURE reviews, EPILEPSY, GENETIC variation, CEREBRAL atrophy, STATUS epilepticus, SYMPTOMS
Abstract

FIRES and NORSE are clinical presentations of disease processes that, to date, remain unexplained without an established etiology in many cases. Neuroinflammation is thought to have paramount importance in the genesis of these conditions. We hereby report the clinical, EEG, brain MRI, and genetic findings of a nuclear family with recurrent febrile‐related encephalopathy with refractory de novo Status Epilepticus. Whole‐exome sequencing (WES) revealed a homozygous p.C105W pathogenic variant of FADD gene (FAS‐associated protein with death domain, FADD), known to cause ultrarare forms of autosomal recessive immunodeficiency that could be associated with variable degrees of lymphoproliferation, cerebral atrophy, and cardiac abnormalities. The FADD‐related conditions disrupt FAS‐mediated apoptosis and can cause a clinical picture with the characteristics of FIRES. This observation is important because, on one hand, it increases the number of reported patients with FADD deficiency, showing that this disorder may present variable expressivity, and on the other hand, it demonstrates a genetic cause of FIRES involving a cell‐mediated inflammation regulatory pathway. This finding supports early treatment with immunomodulatory therapy and could represent a new avenue of research in the field of new onset refractory status epilepticus and related conditions. [ABSTRACT FROM AUTHOR]

Published
2024
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34. Biomarkers of neurodegeneration in isolated and antidepressant‐related rapid eye movement sleep behavior disorder.

Author

Biscarini, Francesco, Pizza, Fabio, Vandi, Stefano, Incensi, Alex, Antelmi, Elena, Donadio, Vincenzo, Ferri, Raffaele, Liguori, Rocco, and Plazzi, Giuseppe

Subjects
RAPID eye movement sleep, SLEEP, BEHAVIOR disorders, SLEEP disorders, PARKINSON'S disease
Abstract

Background and purpose: This study compared the features of isolated rapid eye movement (REM) sleep behavior disorder (iRBD) and antidepressant‐related REM sleep behaviour disorder (RBD) with the aim of highlighting markers that might distinguish the two entities. Methods: The observational cohort study included RBD patients with and without antidepressant use (antiD+ and antiD− patients, respectively), without cognitive impairment and parkinsonism. Clinical features of RBD, subtle motor and non‐motor symptoms of parkinsonism, sleep architecture, REM atonia index, dopamine transporter‐single photon emission computed tomography (DAT‐SPECT) and skin biopsies for the intraneuronal alpha‐synuclein (α‐syn), were evaluated in the baseline work‐up. Results: Thirty‐nine patients, 10 antiD+ and 29 antiD−, were included. AntiD+ patients (more frequently female) reported more psychiatric symptoms, less violent dream enactment, and less frequent hyposmia. Dermal α‐syn was detected in 93.1% of antiD− versus 30% of antiD+ patients (p = 0.00024). No differences appeared in other motor and non‐motor symptoms, Movement Disorder Society–Unified Parkinson's Disease Rating Scale part III score, DAT‐SPECT, or polysomnographic features. Conclusions: Patients with antidepressant‐related RBD have clinical and neuropathological features suggesting a lower risk of evolution than those with iRBD. [ABSTRACT FROM AUTHOR]

Published
2024
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35. Sulcal Morphometry Predicts Mild Cognitive Impairment Conversion to Alzheimer's Disease.

Author

Sighinolfi, Giovanni, Mitolo, Micaela, Pizzagalli, Fabrizio, Stanzani-Maserati, Michelangelo, Remondini, Daniel, Rochat, Magali Jane, Cantoni, Elena, Venturi, Greta, Vornetti, Gianfranco, Bartiromo, Fiorina, Capellari, Sabina, Liguori, Rocco, Tonon, Caterina, Testa, Claudia, and Lodi, Raffaele

Subjects
MILD cognitive impairment, ALZHEIMER'S disease, MORPHOMETRICS, NEUROPSYCHOLOGICAL tests, SHORT-term memory, INSPECTION & review
Abstract

Background: Being able to differentiate mild cognitive impairment (MCI) patients who would eventually convert (MCIc) to Alzheimer's disease (AD) from those who would not (MCInc) is a key challenge for prognosis. Objective: This study aimed to investigate the ability of sulcal morphometry to predict MCI progression to AD, dedicating special attention to an accurate identification of sulci. Methods: Twenty-five AD patients, thirty-seven MCI and twenty-five healthy controls (HC) underwent a brain-MR protocol (1.5T scanner) including a high-resolution T1-weighted sequence. MCI patients underwent a neuropsychological assessment at baseline and were clinically re-evaluated after a mean of 2.3 years. At follow-up, 12 MCI were classified as MCInc and 25 as MCIc. Sulcal morphometry was investigated using the BrainVISA framework. Consistency of sulci across subjects was ensured by visual inspection and manual correction of the automatic labelling in each subject. Sulcal surface, depth, length, and width were retrieved from 106 sulci. Features were compared across groups and their classification accuracy in predicting MCI conversion was tested. Potential relationships between sulcal features and cognitive scores were explored using Spearman's correlation. Results: The width of sulci in the temporo-occipital region strongly differentiated between each pair of groups. Comparing MCIc and MCInc, the width of several sulci in the bilateral temporo-occipital and left frontal areas was significantly altered. Higher width of frontal sulci was associated with worse performances in short-term verbal memory and phonemic fluency. Conclusions: Sulcal morphometry emerged as a strong tool for differentiating HC, MCI, and AD, demonstrating its potential prognostic value for the MCI population. [ABSTRACT FROM AUTHOR]

Published
2024
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36. Multiple intra‐axial lesions in a 57‐year‐old male with a history of B‐cell chronic lymphocytic leukemia.

Author

Asioli, Sofia, Cardisciani, Lina, Martinoni, Matteo, Tonon, Caterina, Liguori, Rocco, Zinzani, Pierluigi, Di Sciascio, Luisa, and Sabattini, Elena

Subjects
DIFFUSE large B-cell lymphomas, T-cell lymphoma, T-cell receptor genes, INAPPROPRIATE ADH syndrome, ETIOLOGY of diseases
Abstract

This article discusses the case of a 57-year-old male with a history of B-cell chronic lymphocytic leukemia who developed multiple intra-axial lesions in the brain. The patient experienced symptoms such as headache, fever, seizures, and coma. Imaging scans revealed edematous lesions with contrast enhancement. A biopsy confirmed the diagnosis of peripheral T-cell lymphoma, Not Otherwise Specified (NOS) consistent with Primary CNS T-cell lymphoma. The article highlights the importance of distinguishing this type of lymphoma from other intra-axial tumors and discusses the prognosis and potential treatment options. [Extracted from the article]

Published
2024
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44. Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

Author

La Morgia, Chiara, Maresca, Alessandra, Amore, Giulia, Gramegna, Laura Ludovica, Carbonelli, Michele, Scimonelli, Emanuela, Danese, Alberto, Patergnani, Simone, Caporali, Leonardo, Tagliavini, Francesca, Del Dotto, Valentina, Capristo, Mariantonietta, Sadun, Federico, Barboni, Piero, Savini, Giacomo, Evangelisti, Stefania, Bianchini, Claudio, Valentino, Maria Lucia, Liguori, Rocco, Tonon, Caterina, Giorgi, Carlotta, Pinton, Paolo, Lodi, Raffaele, and Carelli, Valerio

Published
2020
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45. Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

Author

La Morgia, Chiara, Maresca, Alessandra, Amore, Giulia, Gramegna, Laura Ludovica, Carbonelli, Michele, Scimonelli, Emanuela, Danese, Alberto, Patergnani, Simone, Caporali, Leonardo, Tagliavini, Francesca, Del Dotto, Valentina, Capristo, Mariantonietta, Sadun, Federico, Barboni, Piero, Savini, Giacomo, Evangelisti, Stefania, Bianchini, Claudio, Valentino, Maria Lucia, Liguori, Rocco, Tonon, Caterina, Giorgi, Carlotta, Pinton, Paolo, Lodi, Raffaele, and Carelli, Valerio

Published
2020
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49. Primary Lateral Sclerosis: An Overview.

Author

Vacchiano, Veria, Bonan, Luigi, Liguori, Rocco, and Rizzo, Giovanni

Subjects
AMYOTROPHIC lateral sclerosis, MOTOR neuron diseases, FAMILIAL spastic paraplegia, SPASTICITY, MOTOR neurons, NEURODEGENERATION
Abstract

Primary lateral sclerosis (PLS) is a rare neurodegenerative disorder which causes the selective deterioration of the upper motor neurons (UMNs), sparing the lower motor neuron (LMN) system. The clinical course is defined by a progressive motor disability due to muscle spasticity which typically involves lower extremities and bulbar muscles. Although classically considered a sporadic disease, some familiar cases and possible causative genes have been reported. Despite it having been recognized as a rare but distinct entity, whether it actually represents an extreme end of the motor neuron diseases continuum is still an open issue. The main knowledge gap is the lack of specific biomarkers to improve the clinical diagnostic accuracy. Indeed, the diagnostic imprecision, together with some uncertainty about overlap with UMN-predominant ALS and Hereditary Spastic Paraplegia (HSP), has become an obstacle to the development of specific therapeutic trials. In this study, we provided a comprehensive analysis of the existing literature, including neuropathological, clinical, neuroimaging, and neurophysiological features of the disease, and highlighting the controversies still unsolved in the differential diagnoses and the current diagnostic criteria. We also discussed the current knowledge gaps still present in both diagnostic and therapeutic fields when approaching this rare condition. [ABSTRACT FROM AUTHOR]

Published
2024
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50. The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report.

Author

Vacchiano, Veria, Palombo, Flavia, Ormanbekova, Danara, Fiorini, Claudio, Fiorentino, Alessia, Caporali, Leonardo, Mastrangelo, Andrea, Valentino, Maria Lucia, Capellari, Sabina, Liguori, Rocco, and Carelli, Valerio

Subjects
MOTOR neuron diseases, AMYOTROPHIC lateral sclerosis, GENETIC variation, MONOGENIC & polygenic inheritance (Genetics), MITOCHONDRIAL DNA, HEREDITY, OLANZAPINE
Abstract

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a complex genetic architecture, showing monogenic, oligogenic, and polygenic inheritance. In this study, we describe the case of a 71 years-old man diagnosed with ALS with atypical clinical features consisting in progressive ocular ptosis and sensorineural deafness. Genetic analyses revealed two heterozygous variants, in the SOD1 (OMIM*147450) and the TBK1 (OMIM*604834) genes respectively, and furthermore mitochondrial DNA (mtDNA) sequencing identified the homoplasmic m.14484T>C variant usually associated with Leber’s Hereditary Optic Neuropathy (LHON). We discuss how all these variants may synergically impinge on mitochondrial function, possibly contributing to the pathogenic mechanisms which might ultimately lead to the neurodegenerative process, shaping the clinical ALS phenotype enriched by adjunctive clinical features. [ABSTRACT FROM AUTHOR]

Published
2023
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