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2. Does thyroid diseases contribute to the natural history of idiopathic adult-onset dystonia? Data from the Italian Dystonia Registry

Author

Idrissi, Sarah, Velucci, Vittorio, Esposito, Marcello, Trinchillo, Assunta, Habestwallner, Francesco, Belvisi, Daniele, Fabbrini, Giovanni, Ferrazzano, Gina, Rizzo, Vincenzo, Terranova, Carmen, Girlanda, Paolo, Pellicciari, Roberta, Avanzino, Laura, Di Biasio, Francesca, Marchese, Roberta, Bono, Francesco, Idone, Giovanni, Laterza, Vincenzo, Lettieri, Christian, Rinaldo, Sara, Eleopra, Roberto, Castagna, Anna, Altavista, Maria Concetta, Moschella, Vincenzo, Erro, Roberto, Barone, Paolo, Barbero, Pierangelo, Ceravolo, Roberto, Mazzucchi, Sonia, Mascia, Marcello Mario, Ercoli, Tommaso, Muroni, Antonella, Zibetti, Maurizio, Lopiano, Leonardo, Scaglione, Cesa Lorella Maria, Bentivoglio, Anna Rita, Petracca, Martina, Magistrelli, Luca, Cotelli, Maria Sofia, Cossu, Giovanni, Squintani, Giovanna Maddalena, De Santis, Tiziana, Schirinzi, Tommaso, Misceo, Salvatore, Pisani, Antonio, Berardelli, Alfredo, and Defazio, Giovanni

Published
2024
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3. Multidisciplinary care use in neurodegenerative complex diseases: The example of progressive supranuclear palsy and advanced Parkinson's disease in real-life

Author

Serio, Marina, Zibetti, Maurizio, Bissacco, Jacopo, Satolli, Sara, Sambati, Luisa, Bacchin, Ruggero, Longo, Chiara, Marchese, Roberta, Panetta, Salvatore, Magistrelli, Luca, Contaldi, Elena, Moschella, Vincenzo, Altavista, Maria Concetta, Costanzo, Matteo, Fabbrini, Giovanni, Olivola, Enrica, Modugno, Nicola, Cincotta, Massimo, Piccininni, Maristella, Capecci, Marianna, Baldini, Nicolò, Ciammola, Andrea, Ticozzi, Nicola, Raffaella, Di Giacopo, De Togni, Laura, Sala, Francesca, Nicoletti, Alessandra, Cicero, Edoardo, Ceravolo, Roberto, Del Prete, Eleonora, Fabbri, Margherita, Ledda, Claudia, Schirinzi, Tommaso, Artusi, Carlo Alberto, Avallone, Anna Rosa, Zenuni, Henri, De Micco, Rosa, Aloisio, Simone, Cani, Ilaria, Malaguti, Maria Chiara, Di Biasio, Francesca, Calandra-Buonaura, Giovanna, Stefani, Alessandro, Lopiano, Leonardo, Barone, Paolo, and Picillo, Marina

Published
2024
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7. Do cerebrovascular risk factors impact the clinical expression of idiopathic isolated adult-onset dystonia?

Author

Zaccone, Claudio, Cerne, Denise, Idone, Giovanni, Ferrazzano, Gina, Rinaldo, Sara, Humaidan, Kais, Devigili, Grazia, Polidori, Luigi, Mazzucchi, Sonia, Ramella, Marina, Ledda, Claudia, Petracca, Martina, Oppo, Valentina, Contaldi, Elena, Turla, Marinella, Gigante, Angelo Fabio, Valentino, Francesca, Cassano, Daniela, Modugno, Nicola, Tambasco, Nicola, Aguggia, Marco, Romano, Marcello, Marinelli, Lucio, Mascia, Marcello Mario, Belvisi, Daniele, Esposito, Marcello, Pellicciari, Roberta, Trinchillo, Assunta, Terranova, Carmen, Bertino, Salvatore, Avanzino, Laura, Di Biasio, Francesca, Bono, Francesco, Laterza, Vincenzo, Lettieri, Christian, Eleopra, Roberto, Fabbrini, Giovanni, Barbero, Pierangelo, Bertolasi, Laura, Altavista, Maria Concetta, Erro, Roberto, Ceravolo, Roberto, Castagna, Anna, Zibetti, Maurizio, Bentivoglio, Anna Rita, Cossu, Giovanni, Magistrelli, Luca, Scaglione, Cesa, Albanese, Alberto, Cotelli, Maria Sofia, Misceo, Salvatore, Pisani, Antonio, Schirinzi, Tommaso, Maderna, Luca, Squintani, Giovanna, Berardelli, Alfredo, and Defazio, Giovanni

Published
2023
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10. The Italian tremor Network (TITAN): rationale, design and preliminary findings

Author

Erro, Roberto, Pilotto, Andrea, Esposito, Marcello, Olivola, Enrica, Nicoletti, Alessandra, Lazzeri, Giulia, Magistrelli, Luca, Dallocchio, Carlo, Marchese, Roberta, Bologna, Matteo, Tessitore, Alessandro, Misceo, Salvatore, Gigante, Angelo Fabio, Terranova, Carmen, Moschella, Vincenzo, di Biase, Lazzaro, Di Giacopo, Raffaella, Morgante, Francesca, Valentino, Francesca, De Rosa, Anna, Trinchillo, Assunta, Malaguti, Maria Chiara, Brusa, Livia, Matinella, Angela, Di Biasio, Francesca, Paparella, Giulia, De Micco, Rosa, Contaldi, Elena, Modugno, Nicola, Di Fonzo, Alessio, Padovani, Alessandro, and Barone, Paolo

Published
2022
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13. The Impact of Probiotics on Clinical Symptoms and Peripheral Cytokines Levels in Parkinson's Disease: Preliminary In Vivo Data.

Author

Magistrelli, Luca, Contaldi, Elena, Visciglia, Annalisa, Deusebio, Giovanni, Pane, Marco, and Amoruso, Angela

Abstract

Introduction. Previous studies have shown that probiotics have positive effects on both motor and non-motor symptoms in Parkinson's disease (PD). Additionally, in preclinical settings, probiotics have demonstrated the ability to counteract neuronal loss and alpha-synuclein aggregation, important pathological hallmarks of PD. Notably, preliminary in vitro studies have revealed the immunomodulatory properties of probiotics. This study aims to evaluate the impact of probiotics on symptoms and peripheral cytokines levels in PD patients compared to placebo. Methods. Patients were enrolled and blindly randomized to receive either active probiotics (comprising Bifidobacterium animalis subsp. lactis BS01 LMG P-21384, Bifidobacterium longum BL03 DSM 16603, Bifidobacterium adolescentis BA02 DSM 18351, Fructo-oligosaccharides and Maltodextrin-Group A) or placebo (Maltodextrin-Group B). Clinical evaluations and plasma levels cytokines (TNF-α, IFN-γ, IL-6, and TGF-β) were also assessed at enrollment and after 12 weeks. Anti-parkinsonian therapy remained stable throughout the study. Results. Forty PD patients were recruited. After 12 weeks, Group A showed significant improvement in motor symptoms (UPDRS III: 13.89 ± 4.08 vs. 12.74 ± 4.57, p = 0.028) and non-motor symptoms (NMSS: 34.32 ± 21.41 vs. 30.11 ± 19.89, p = 0.041), with notable improvement in the gastrointestinal sub-item (3.79 ± 4.14 vs. 1.89 ± 2.54, p = 0.021). A reduction of IFN-γ levels was observed in both groups, but group A also showed a significant decrease in IL-6 and a slight increase in the anti-inflammatory cytokine TGF-β. Conclusions. Our data suggest that probiotics may modulate peripheral cytokines levels and improve clinical symptoms in PD patients. Probiotics may, therefore, represent a valuable adjunctive therapy to conventional anti-parkinsonian drugs. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Family History in Parkinson's Disease: A National Cross‐Sectional Study.

Author

Arienti, Federica, Casazza, Giovanni, Franco, Giulia, Lazzeri, Giulia, Monfrini, Edoardo, Di Maio, Alessandro, Erro, Roberto, Barone, Paolo, Tamma, Filippo, Caputo, Elena, Volontè, Maria Antonietta, Cacciaguerra, Laura, Pilotto, Andrea, Padovani, Alessandro, Comi, Cristoforo, Magistrelli, Luca, Valzania, Franco, Cavallieri, Francesco, Avanzino, Laura, and Marchese, Roberta

Subjects
FAMILY history (Medicine), PARKINSON'S disease, DISEASE clusters, SOCIAL background, AFFECTIVE disorders
Abstract

Background: Family history of Parkinson's disease (PD) is a common finding in PD patients. However, a few studies have systematically examined this aspect. Objectives: We investigated the family history of PD patients, comparing demographic and clinical features between familial PD (fPD) and sporadic PD (sPD). Methods: A cross‐sectional study enrolling 2035 PD patients was conducted in 28 Italian centers. Clinical data and family history up to the third degree of kinship were collected. Results: Family history of PD was determined in 21.9% of patients. fPD patients had earlier age at onset than sporadic patients. No relevant differences in the prevalence of motor and nonmotor symptoms were detected. Family history of mood disorders resulted more prevalently in the fPD group. Conclusions: fPD was found to recur more frequently than previously reported. Family history collection beyond the core family is essential to discover disease clusters and identify novel risk factors for PD. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Author

Ramos, Eliana Marisa, Carecchio, Miryam, Lemos, Roberta, Ferreira, Joana, Legati, Andrea, Sears, Renee Louise, Hsu, Sandy Chan, Panteghini, Celeste, Magistrelli, Luca, Salsano, Ettore, Esposito, Silvia, Taroni, Franco, Richard, Anne-Claire, Tranchant, Christine, Anheim, Mathieu, Ayrignac, Xavier, Goizet, Cyril, Vidailhet, Marie, Maltete, David, Wallon, David, Frebourg, Thierry, Pimentel, Lylyan, Geschwind, Daniel H, Vanakker, Olivier, Galasko, Douglas, Fogel, Brent L, Innes, A Micheil, Ross, Alison, Dobyns, William B, Alcantara, Diana, O'Driscoll, Mark, Hannequin, Didier, Campion, Dominique, French PFBC study group, Oliveira, João R, Garavaglia, Barbara, Coppola, Giovanni, and Nicolas, Gaël

Subjects
French PFBC study group, Humans, Brain Diseases, Calcinosis, Receptor, Platelet-Derived Growth Factor beta, Proto-Oncogene Proteins c-sis, Receptors, G-Protein-Coupled, Receptors, Virus, Pedigree, Heterozygote, Phenotype, Mutation, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Female, Male, Sodium-Phosphate Cotransporter Proteins, Type III, Genetic Variation, Young Adult, Cognitive Dysfunction, Receptor, Platelet-Derived Growth Factor beta, Receptors, G-Protein-Coupled, Virus, and over, Sodium-Phosphate Cotransporter Proteins, Type III, Genetics, Genetics & Heredity, Clinical Sciences
Abstract

Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with a wide spectrum of motor, cognitive, and neuropsychiatric symptoms. It is typically inherited as an autosomal-dominant trait with four causative genes identified so far: SLC20A2, PDGFRB, PDGFB, and XPR1. Our study aimed at screening the coding regions of these genes in a series of 177 unrelated probands that fulfilled the diagnostic criteria for primary brain calcification regardless of their family history. Sequence variants were classified as pathogenic, likely pathogenic, or of uncertain significance (VUS), based on the ACMG-AMP recommendations. We identified 45 probands (25.4%) carrying either pathogenic or likely pathogenic variants (n = 34, 19.2%) or VUS (n = 11, 6.2%). SLC20A2 provided the highest contribution (16.9%), followed by XPR1 and PDGFB (3.4% each), and PDGFRB (1.7%). A total of 81.5% of carriers were symptomatic and the most recurrent symptoms were parkinsonism, cognitive impairment, and psychiatric disturbances (52.3%, 40.9%, and 38.6% of symptomatic individuals, respectively), with a wide range of age at onset (from childhood to 81 years). While the pathogenic and likely pathogenic variants identified in this study can be used for genetic counseling, the VUS will require additional evidence, such as recurrence in unrelated patients, in order to be classified as pathogenic.

Published
2018

16. Spread of segmental/multifocal idiopathic adult-onset dystonia to a third body site

Author

Cimino, Paola, Scannapieco, Sara, Ferrazzano, Gina, Brigandì, Amelia, Habetswallner, Francesco, Pascarella, Angelo, Ialongo, Tamara, Ramella, Marina, Mazzucchi, Sonia, Moschella, Vincenzo, Ercoli, Tommaso, Erro, Roberto, Fabbrini, Giovanni, Pellicciari, Roberta, Girlanda, Paolo, Terranova, Carmen, Avanzino, Laura, Di Biasio, Francesca, Barone, Paolo, Esposito, Marcello, De Joanna, Gabriella, Eleopra, Roberto, Bono, Francesco, Manzo, Lucia, Bentivoglio, Anna Rita, Petracca, Martina, Mascia, Marcello Mario, Albanese, Alberto, Castagna, Anna, Ceravolo, Roberto, Altavista, Maria Concetta, Scaglione, Cesa, Magistrelli, Luca, Zibetti, Maurizio, Bertolasi, Laura, Coletti Moja, Mario, Cotelli, Maria Sofia, Cossu, Giovanni, Minafra, Brigida, Pisani, Antonio, Misceo, Salvatore, Modugno, Nicola, Romano, Marcello, Cassano, Daniela, Berardelli, Alfredo, and Defazio, Giovanni

Published
2021
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17. Correction to: The Italian tremor Network (TITAN): rationale, design and preliminary findings

Author

Erro, Roberto, Pilotto, Andrea, Esposito, Marcello, Olivola, Enrica, Nicoletti, Alessandra, Lazzeri, Giulia, Magistrelli, Luca, Dallocchio, Carlo, Marchese, Roberta, Bologna, Matteo, Tessitore, Alessandro, Misceo, Salvatore, Gigante, Angelo Fabio, Terranova, Carmen, Moschella, Vincenzo, di Biase, Lazzaro, Di Giacopo, Raffaella, Morgante, Francesca, Valentino, Francesca, De Rosa, Anna, Trinchillo, Assunta, Malaguti, Maria Chiara, Brusa, Livia, Matinella, Angela, Di Biasio, Francesca, Paparella, Giulia, De Micco, Rosa, Contaldi, Elena, Modugno, Nicola, Di Fonzo, Alessio, Padovani, Alessandro, and Barone, Paolo

Published
2022
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20. Does sex influence the natural history of idiopathic adult-onset dystonia?

Author

Velucci, Vittorio, primary, Idrissi, Sarah, additional, Pellicciari, Roberta, additional, Esposito, Marcello, additional, Trinchillo, Assunta, additional, Belvisi, Daniele, additional, Fabbrini, Giovanni, additional, Ferrazzano, Gina, additional, Terranova, Carmen, additional, Girlanda, Paolo, additional, Majorana, Giovanni, additional, Rizzo, Vincenzo, additional, Bono, Francesco, additional, Idone, Giovanni, additional, Laterza, Vincenzo, additional, Avanzino, Laura, additional, Di Biasio, Francesca, additional, Marchese, Roberta, additional, Castagna, Anna, additional, Ramella, Marina, additional, Lettieri, Christian, additional, Rinaldo, Sara, additional, Altavista, Maria Concetta, additional, Polidori, Luigi, additional, Bertolasi, Laura, additional, Tozzi, Maria Chiara, additional, Erro, Roberto, additional, Barone, Paolo, additional, Barbero, Pierangelo, additional, Ceravolo, Roberto, additional, Mascia, Marcello Mario, additional, Ercoli, Tommaso, additional, Muroni, Antonella, additional, Artusi, Carlo Alberto, additional, Zibetti, Maurizio, additional, Scaglione, Cesa Lorella Maria, additional, Bentivoglio, Anna Rita, additional, Cotelli, Maria Sofia, additional, Magistrelli, Luca, additional, Cossu, Giovanni, additional, Albanese, Alberto, additional, Squintani, Giovanna Maddalena, additional, Schirinzi, Tommaso, additional, Gigante, Angelo Fabio, additional, Maderna, Luca, additional, Eleopra, Roberto, additional, Pisani, Antonio, additional, Cassano, Daniela, additional, Romano, Marcello, additional, Rizzo, Marina, additional, Berardelli, Alfredo, additional, and Defazio, Giovanni, additional

Published
2024
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23. Myoclonus‐Dystonia plus Syndrome in a Patient Carrying a Novel TCF20 Variant.

Author

Magistrelli, Luca, Contaldi, Elena, D'Alfonso, Sandra, and Corrado, Lucia

Subjects
*FRAGILE X syndrome, *INFORMED consent (Medical law), *MOVEMENT disorders, *SINGLE nucleotide polymorphisms, *JUVENILE diseases, *MYOCLONUS
Abstract

The article discusses a case study of a 70-year-old man with Myoclonus-Dystonia plus Syndrome (MDPS) carrying a novel TCF20 variant. The patient presented with myoclonic jerks, dystonia, ataxic gait, hyperreflexia, and dysarthria, along with intellectual disability and mild dysmorphic features. Genetic testing revealed a likely pathogenic variant in TCF20, expanding the understanding of movement disorders associated with this gene. The study highlights the complexity of MDPS and the need for further research to explore the genetic pathways involved in this rare condition. [Extracted from the article]

Published
2024
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24. Demographic and clinical determinants of neck pain in idiopathic cervical dystonia

Author

Tinazzi, Michele, Erro, Roberto, Mascia, Marcello Mario, Esposito, Marcello, Ercoli, Tommaso, Ferrazzano, Gina, Di Biasio, Francesca, Pellicciari, Roberta, Eleopra, Roberto, Bono, Francesco, Bertolasi, Laura, Barone, Paolo, Scaglione, Cesa Lorella Maria, Pisani, Antonio, Altavista, Maria Concetta, Cotelli, Maria Sofia, Ceravolo, Roberto, Cossu, Giovanni, Zibetti, Maurizio, Moja, Mario Coletti, Girlanda, Paolo, Maderna, Luca, Albanese, Alberto, Petracca, Martina, Magistrelli, Luca, Misceo, Salvatore, Minafra, Brigida, Romano, Marcello, Squintani, Giovanna Maddalena, Modugno, Nicola, Aguggia, Marco, Cassano, Daniela, Castagna, Anna, Morgante, Francesca, Berardelli, Alfredo, and Defazio, Giovanni

Published
2020
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27. Comparing Essential Tremor with and without Soft Dystonic Signs and Tremor Combined with Dystonia: The TITAN Study.

Author

Erro, Roberto, Lazzeri, Giulia, Terranova, Carmen, Paparella, Giulia, Gigante, Angelo Fabio, De Micco, Rosa, Magistrelli, Luca, Di Biasio, Francesca, Valentino, Francesca, Moschella, Vincenzo, Pilotto, Andrea, Esposito, Marcello, Olivola, Enrica, Malaguti, Maria Chiara, Ceravolo, Roberto, Dallocchio, Carlo, Spagnolo, Francesca, Nicoletti, Alessandra, De Rosa, Anna, and Di Giacopo, Raffaella

Subjects
ESSENTIAL tremor, TREMOR, DYSTONIA, SEX distribution, REGRESSION analysis, QUALITY of life
Abstract

Background: Tremor disorders remain as clinical diagnoses and the rate of misdiagnosis between the commonest non‐parkinsonian tremors is relatively high. Objectives: To compare the clinical features of Essential Tremor without other features (pure ET), ET plus soft dystonic signs (ET + DS), and tremor combined with dystonia (TwD). Methods: We compared the clinical features of patients with pure ET, ET + DS, and TwD enrolled in The ITAlian tremor Network (TITAN). Linear regression models were performed to determine factors associated with health status and quality of life. Results: Three‐hundred‐eighty‐three patients were included. Sex distribution was significantly different between the groups with males being more represented in pure ET and females in TwD. The initial site of tremor was different between the groups with about 40% of TwD having head tremor and ET + DS unilateral upper limb tremor at onset. This pattern mirrored the distribution of overt dystonia and soft dystonic signs at examination. Sensory trick, task‐specificity, and position‐dependence were more common, but not exclusive, to TwD. Pure ET patients showed the lowest degree of alcohol responsiveness and ET + DS the highest. Midline tremor was more commonly encountered and more severe in TwD than in the other groups. Regression analyses demonstrated that tremor severity, sex, age, and to a lesser degree the variable "group", independently predicted health status and quality of life, suggesting the existence of other determinants beyond tremor. Conclusions: Pure ET and TwD manifest with a phenotypic overlap, which calls for the identification of diagnostic biomarkers. ET + DS shared features with both syndromes, suggesting intra‐group heterogeneity. [ABSTRACT FROM AUTHOR]

Published
2024
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29. Validation of the Italian version of the PSP Quality of Life questionnaire

Author

Picillo, Marina, Cuoco, Sofia, Amboni, Marianna, Bonifacio, Francesco Paolo, Bruschi, Fabio, Carotenuto, Immacolata, De Micco, Rosa, De Rosa, Anna, Del Prete, Eleonora, Di Biasio, Francesca, Elifani, Francesca, Erro, Roberto, Fabbri, Margherita, Falla, Marika, Franco, Giulia, Frosini, Daniela, Galantucci, Sebastiano, Lazzeri, Giulia, Magistrelli, Luca, Malaguti, Maria Chiara, Milner, Anna Vera, Minafra, Brigida, Olivola, Enrica, Pilotto, Andrea, Rascunà, Cristina, Rizzetti, Maria Cristina, Schirinzi, Tommaso, Borroni, Barbara, Ceravolo, Roberto, Di Fonzo, Alessio, Marchese, Roberta, Mercuri, Nicola B., Modugno, Nicola, Nicoletti, Alessandra, Padovani, Alessandro, Santangelo, Gabriella, Stefani, Alessandro, Tessitore, Alessandro, Volontè, Maria Antonietta, Zangaglia, Roberta, Zappia, Mario, Zibetti, Maurizio, and Barone, Paolo

Published
2019
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30. Validation of the Italian version of carers’ quality-of-life questionnaire for parkinsonism (PQoL Carer) in progressive supranuclear palsy

Author

Picillo, Marina, Cuoco, Sofia, Amboni, Marianna, Bonifacio, Francesco Paolo, Bruno, Antonino, Bruschi, Fabio, Cappiello, Arianna, De Micco, Rosa, De Rosa, Anna, Di Biasio, Francesca, Elifani, Francesca, Erro, Roberto, Fabbri, Margherita, Falla, Marika, Franco, Giulia, Frosini, Daniela, Galantucci, Sebastiano, Lazzeri, Giulia, Magistrelli, Luca, Malaguti, Maria Chiara, Milner, Anna Vera, Minafra, Brigida, Olivola, Enrica, Pilotto, Andrea, Rascunà, Cristina, Rizzetti, Maria Cristina, Schirinzi, Tommaso, Borroni, Barbara, Ceravolo, Roberto, Di Fonzo, Alessio, Lopiano, Leonardo, Marchese, Roberta, Mercuri, Nicola B, Modugno, Nicola, Nicoletti, Alessandra, Padovani, Alessandro, Santangelo, Gabriella, Stefani, Alessandro, Tessitore, Alessandro, Volontè, Maria Antonietta, Zangaglia, Roberta, Zappia, Mario, and Barone, Paolo

Published
2019
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31. Gait Monitoring and Analysis: A Mathematical Approach

Author

Canonico, Massimo, primary, Desimoni, Francesco, additional, Ferrero, Alberto, additional, Grassi, Pietro Antonio, additional, Irwin, Christopher, additional, Campani, Daiana, additional, Dal Molin, Alberto, additional, Panella, Massimiliano, additional, and Magistrelli, Luca, additional

Published
2023
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32. Do cerebrovascular risk factors impact the clinical expression of idiopathic isolated adult-onset dystonia?

Author

Mascia, Marcello Mario, primary, Belvisi, Daniele, additional, Esposito, Marcello, additional, Pellicciari, Roberta, additional, Trinchillo, Assunta, additional, Terranova, Carmen, additional, Bertino, Salvatore, additional, Avanzino, Laura, additional, Di Biasio, Francesca, additional, Bono, Francesco, additional, Laterza, Vincenzo, additional, Lettieri, Christian, additional, Eleopra, Roberto, additional, Fabbrini, Giovanni, additional, Barbero, Pierangelo, additional, Bertolasi, Laura, additional, Altavista, Maria Concetta, additional, Erro, Roberto, additional, Ceravolo, Roberto, additional, Castagna, Anna, additional, Zibetti, Maurizio, additional, Bentivoglio, Anna Rita, additional, Cossu, Giovanni, additional, Magistrelli, Luca, additional, Scaglione, Cesa, additional, Albanese, Alberto, additional, Cotelli, Maria Sofia, additional, Misceo, Salvatore, additional, Pisani, Antonio, additional, Schirinzi, Tommaso, additional, Maderna, Luca, additional, Squintani, Giovanna, additional, Berardelli, Alfredo, additional, Defazio, Giovanni, additional, Zaccone, Claudio, additional, Cerne, Denise, additional, Idone, Giovanni, additional, Ferrazzano, Gina, additional, Rinaldo, Sara, additional, Humaidan, Kais, additional, Devigili, Grazia, additional, Polidori, Luigi, additional, Mazzucchi, Sonia, additional, Ramella, Marina, additional, Ledda, Claudia, additional, Petracca, Martina, additional, Oppo, Valentina, additional, Contaldi, Elena, additional, Turla, Marinella, additional, Gigante, Angelo Fabio, additional, Valentino, Francesca, additional, Cassano, Daniela, additional, Modugno, Nicola, additional, Tambasco, Nicola, additional, Aguggia, Marco, additional, Romano, Marcello, additional, and Marinelli, Lucio, additional

Published
2023
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33. Correction to: Demographic and clinical determinants of neck pain in idiopathic cervical dystonia

Author

Tinazzi, Michele, Erro, Roberto, Mascia, Marcello Mario, Esposito, Marcello, Ercoli, Tommaso, Ferrazzano, Gina, Di Biasio, Francesca, Pellicciari, Roberta, Eleopra, Roberto, Bono, Francesco, Bertolasi, Laura, Barone, Paolo, Scaglione, Cesa Lorella Maria, Pisani, Antonio, Altavista, Maria Concetta, Cotelli, Maria Sofia, Ceravolo, Roberto, Cossu, Giovanni, Zibetti, Maurizio, Coletti Moja, Mario, Girlanda, Paolo, Maderna, Luca, Albanese, Alberto, Petracca, Martina, Magistrelli, Luca, Misceo, Salvatore, Minafra, Brigida, Romano, Marcello, Squintani, Giovanna Maddalena, Modugno, Nicola, Aguggia, Marco, Cassano, Daniela, Castagna, Anna, Morgante, Francesca, Berardelli, Alfredo, and Defazio, Giovanni

Published
2021
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34. Menstrual‐Related Fluctuations in a Juvenile‐Onset Parkinson's Disease Patient Treated with STN‐DBS: Correlation with Local Field Potentials.

Author

Contaldi, Elena, Leogrande, Gaetano, Fornaro, Riccardo, Comi, Cristoforo, and Magistrelli, Luca

Subjects
PARKINSON'S disease, JUVENILE diseases, DEEP brain stimulation, MOVEMENT disorders, MENSTRUATION disorders
Abstract

This article discusses a case study of a 21-year-old woman with juvenile-onset Parkinson's disease (PD) who was treated with deep brain stimulation (DBS). The study aimed to understand the fluctuation of motor symptoms during different phases of the menstrual cycle. The patient experienced more "off" periods with painful dystonia during the luteal phase of her menstrual cycle. The study found associations between the levels of progesterone and the modulation of beta band activity in the subthalamic nucleus (STN), highlighting the role of sex hormones in the response to medication. The study provides insights into the complex relationship between sex hormones and motor fluctuations in PD. [Extracted from the article]

Published
2024
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35. MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism

Author

Chelban, Viorica, Carecchio, Miryam, Rea, Gillian, Bowirrat, Abdalla, Kirmani, Salman, Magistrelli, Luca, Efthymiou, Stephanie, Schottlaender, Lucia, Vandrovcova, Jana, Salpietro, Vincenzo, Salsano, Ettore, Pareyson, Davide, Chiapparini, Luisa, Jan, Farida, Ibrahim, Shahnaz, Khan, Fatima, Qarnain, Zul, Groppa, Stanislav, Bajaj, Nin, Balint, Bettina, Bhatia, Kailash P., Lees, Andrew, Morrison, Patrick J., Wood, Nicholas W., Garavaglia, Barbara, and Houlden, Henry

Published
2020
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36. Phenotypic Variability in Acquired and Idiopathic Dystonia

Author

Defazio, Giovanni, primary, Gigante, Angelo Fabio, additional, Erro, Roberto, additional, Belvisi, Daniele, additional, Esposito, Marcello, additional, Trinchillo, Assunta, additional, De Joanna, Gabriella, additional, Ceravolo, Roberto, additional, Mazzucchi, Sonia, additional, Unti, Elisa, additional, Barone, Paolo, additional, Scannapieco, Sara, additional, Cotelli, Maria Sofia, additional, Turla, Marinella, additional, Bianchi, Marta, additional, Bertolasi, Laura, additional, Pisani, Antonio, additional, Valentino, Francesca, additional, Altavista, Maria Concetta, additional, Moschella, Vincenzo, additional, Girlanda, Paolo, additional, Terranova, Carmen, additional, Bono, Francesco, additional, Spano, Giorgio, additional, Fabbrini, Giovanni, additional, Ferrazzano, Gina, additional, Albanese, Alberto, additional, Castagna, Anna, additional, Cassano, Daniela, additional, Coletti Moja, Mario, additional, Pellicciari, Roberta, additional, Bentivoglio, Anna Rita, additional, Eleopra, Roberto, additional, Cossu, Giovanni, additional, Ercoli, Tommaso, additional, Mascia, Marcello Mario, additional, Di Biasio, Francesca, additional, Misceo, Salvatore, additional, Magistrelli, Luca, additional, Romano, Marcello, additional, Scaglione, Cesa Lorella Maria, additional, Tinazzi, Michele, additional, Maderna, Luca, additional, Zibetti, Maurizio, additional, and Berardelli, Alfredo, additional

Published
2023
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37. Do cerebrovascular risk factors impact the clinical expression of idiopathic isolated adult-onset dystonia?

Author

Mascia, Marcello Mario, Belvisi, Daniele, Esposito, Marcello, Pellicciari, Roberta, Trinchillo, Assunta, Terranova, Carmen, Bertino, Salvatore, Avanzino, Laura, Di Biasio, Francesca, Bono, Francesco, Laterza, Vincenzo, Lettieri, Christian, Eleopra, Roberto, Fabbrini, Giovanni, Barbero, Pierangelo, Bertolasi, Laura, Altavista, Maria Concetta, Erro, Roberto, Ceravolo, Roberto, Castagna, Anna, Zibetti, Maurizio, Bentivoglio, Anna Rita, Cossu, Giovanni, Magistrelli, Luca, Scaglione, Cesa, Albanese, Alberto, Cotelli, Maria Sofia, Misceo, Salvatore, Pisani, Antonio, Schirinzi, Tommaso, Maderna, Luca, Squintani, Giovanna, Berardelli, Alfredo, Defazio, Giovanni, Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), Albanese, Alberto (ORCID:0000-0002-5864-0006), Mascia, Marcello Mario, Belvisi, Daniele, Esposito, Marcello, Pellicciari, Roberta, Trinchillo, Assunta, Terranova, Carmen, Bertino, Salvatore, Avanzino, Laura, Di Biasio, Francesca, Bono, Francesco, Laterza, Vincenzo, Lettieri, Christian, Eleopra, Roberto, Fabbrini, Giovanni, Barbero, Pierangelo, Bertolasi, Laura, Altavista, Maria Concetta, Erro, Roberto, Ceravolo, Roberto, Castagna, Anna, Zibetti, Maurizio, Bentivoglio, Anna Rita, Cossu, Giovanni, Magistrelli, Luca, Scaglione, Cesa, Albanese, Alberto, Cotelli, Maria Sofia, Misceo, Salvatore, Pisani, Antonio, Schirinzi, Tommaso, Maderna, Luca, Squintani, Giovanna, Berardelli, Alfredo, Defazio, Giovanni, Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), and Albanese, Alberto (ORCID:0000-0002-5864-0006)

Abstract

Background: Although acquired dystonia may develop following ischaemic/haemorrhagic stroke, the relationship between cerebrovascular disease and idiopathic dystonia has been poorly investigated. This cross sectional study aimed at evaluating the impact of cerebrovascular risk factors on the clinical expression of idiopathic adult onset dystonia (IAOD), with reference to dystonia localization and dystonia-associated features.Methods: Data were obtained from the Italian Dystonia Registry. Patients with IAOD were stratified into two groups according to the presence of diabetes mellitus and/or arterial hypertension and/or dyslipidemia and/or heart disease. The two groups were compared for demographic features, dystonia phenotype, and dystonia-associated features (sensory trick, tremor, eye symptoms in blepharospasm, and neck pain in cervical dystonia).Results: A total of 1108 patients participated into the study. Patients who reported one cerebrovascular factor or more (n = 555) had higher age and longer disease duration than patients who did not. On multivariable logistic regression analysis, blepharospasm was the only localization, and sensory trick was the only dystonia-associated feature that was significantly associated with cerebrovascular risk factors. Linear regression analysis showed that the strength of the association between cerebrovascular factors and blepharospasm/sensory trick increased with increasing the number of cerebrovascular factors per patient.Conclusions: Results of the present study showed that cerebrovascular risk factors may be associated with specific features of IAOD that is development of blepharospasm and sensory trick. Further studies are needed to better understand the meaning and the mechanisms underlying this association.

Published
2023

38. Phenotypic Variability in Acquired and Idiopathic Dystonia

Author

Defazio, Giovanni, Gigante, Angelo Fabio, Erro, Roberto, Belvisi, Daniele, Esposito, Marcello, Trinchillo, Assunta, De Joanna, Gabriella, Ceravolo, Roberto, Mazzucchi, Sonia, Unti, Elisa, Barone, Paolo, Scannapieco, Sara, Cotelli, Maria Sofia, Turla, Marinella, Bianchi, Marta, Bertolasi, Laura, Pisani, Antonio, Valentino, Francesca, Altavista, Maria Concetta, Moschella, Vincenzo, Girlanda, Paolo, Terranova, Carmen, Bono, Francesco, Spano, Giorgio, Fabbrini, Giovanni, Ferrazzano, Gina, Albanese, Alberto, Castagna, Anna, Cassano, Daniela, Coletti Moja, Mario, Pellicciari, Roberta, Bentivoglio, Anna Rita, Eleopra, Roberto, Cossu, Giovanni, Ercoli, Tommaso, Mascia, Marcello Mario, Di Biasio, Francesca, Misceo, Salvatore, Magistrelli, Luca, Romano, Marcello, Scaglione, Cesa Lorella Maria, Tinazzi, Michele, Maderna, Luca, Zibetti, Maurizio, Berardelli, Alfredo, Albanese, Alberto (ORCID:0000-0002-5864-0006), Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), Defazio, Giovanni, Gigante, Angelo Fabio, Erro, Roberto, Belvisi, Daniele, Esposito, Marcello, Trinchillo, Assunta, De Joanna, Gabriella, Ceravolo, Roberto, Mazzucchi, Sonia, Unti, Elisa, Barone, Paolo, Scannapieco, Sara, Cotelli, Maria Sofia, Turla, Marinella, Bianchi, Marta, Bertolasi, Laura, Pisani, Antonio, Valentino, Francesca, Altavista, Maria Concetta, Moschella, Vincenzo, Girlanda, Paolo, Terranova, Carmen, Bono, Francesco, Spano, Giorgio, Fabbrini, Giovanni, Ferrazzano, Gina, Albanese, Alberto, Castagna, Anna, Cassano, Daniela, Coletti Moja, Mario, Pellicciari, Roberta, Bentivoglio, Anna Rita, Eleopra, Roberto, Cossu, Giovanni, Ercoli, Tommaso, Mascia, Marcello Mario, Di Biasio, Francesca, Misceo, Salvatore, Magistrelli, Luca, Romano, Marcello, Scaglione, Cesa Lorella Maria, Tinazzi, Michele, Maderna, Luca, Zibetti, Maurizio, Berardelli, Alfredo, Albanese, Alberto (ORCID:0000-0002-5864-0006), and Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X)

Abstract

BackgroundTo date, a few studies have systematically investigated differences in the clinical spectrum between acquired and idiopathic dystonias. ObjectivesTo compare demographic data and clinical features in patients with adult-onset acquired and idiopathic dystonias. MethodsPatients were identified from among those included in the Italian Dystonia Registry, a multicenter Italian dataset of patients with adult-onset dystonia. Study population included 116 patients with adult-onset acquired dystonia and 651 patients with isolated adult-onset idiopathic dystonia. ResultsComparison of acquired and idiopathic dystonia revealed differences in the body distribution of dystonia, with oromandibular dystonia, limb and trunk dystonia being more frequent in patients with acquired dystonia. The acquired dystonia group was also characterized by lower age at dystonia onset, greater tendency to spread, lower frequency of head tremor, sensory trick and eye symptoms, and similar frequency of neck pain associated with CD and family history of dystonia/tremor. ConclusionsThe clinical phenomenology of dystonia may differ between acquired and idiopathic dystonia, particularly with regard to the body localization of dystonia and the tendency to spread. This dissimilarity raises the possibility of pathophysiological differences between etiologic categories.

Published
2023

39. Levodopa Equivalent Dose of Safinamide: A Multicenter, Longitudinal, Case–Control Study

Author

Cilia, Roberto, primary, Cereda, Emanuele, additional, Piatti, Marco, additional, Pilotto, Andrea, additional, Magistrelli, Luca, additional, Golfrè Andreasi, Nico, additional, Bonvegna, Salvatore, additional, Contaldi, Elena, additional, Mancini, Francesca, additional, Imbalzano, Gabriele, additional, De Micco, Rosa, additional, Colucci, Fabiana, additional, Braccia, Arianna, additional, Bellini, Gabriele, additional, Brovelli, Francesco, additional, Zangaglia, Roberta, additional, Lazzeri, Giulia, additional, Russillo, Maria Claudia, additional, Olivola, Enrica, additional, Sorbera, Chiara, additional, Cereda, Viviana, additional, Pinto, Patrizia, additional, Sucapane, Patrizia, additional, Gelosa, Giorgio, additional, Meloni, Mario, additional, Pistoia, Francesca, additional, Sessa, Maria, additional, Canesi, Margherita, additional, Modugno, Nicola, additional, Pacchetti, Claudio, additional, Brighina, Laura, additional, Pellecchia, Maria Teresa, additional, Ceravolo, Roberto, additional, Sensi, Mariachiara, additional, Zibetti, Maurizio, additional, Comi, Cristoforo, additional, Padovani, Alessandro, additional, Zecchinelli, Anna L., additional, Di Fonzo, Alessio, additional, Tessitore, Alessandro, additional, Morgante, Francesca, additional, and Eleopra, Roberto, additional

Published
2023
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41. Visuospatial Deficits Are Associated with Pisa Syndrome and not Camptocormia in Parkinson's Disease

Author

Artusi, Carlo Alberto, primary, Montanaro, Elisa, additional, Erro, Roberto, additional, Margraf, Nils, additional, Geroin, Christian, additional, Pilotto, Andrea, additional, Magistrelli, Luca, additional, Spagnolo, Francesca, additional, Marchet, Alberto, additional, Sarro, Lidia, additional, Cuoco, Sofia, additional, Sacchetti, Marta, additional, Riello, Marianna, additional, Capellero, Barbara, additional, Berchialla, Paola, additional, Moeller, Bettina, additional, Vullriede, Beeke, additional, Zibetti, Maurizio, additional, Rini, Augusto Maria, additional, Barone, Paolo, additional, Comi, Cristoforo, additional, Padovani, Alessandro, additional, Tinazzi, Michele, additional, and Lopiano, Leonardo, additional

Published
2022
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43. Clinical correlates of "pure" essential tremor: the TITAN study.

Author

Erro, Roberto, Lazzeri, Giulia, Gigante, Angelo Fabio, Pilotto, Andrea, Magistrelli, Luca, Bologna, Matteo, Terranova, Carmen, Olivola, Enrica, Dallocchio, Carlo, Moschella, Vincenzo, Valentino, Francesca, Di Biasio, Francesca, Nicoletti, Alessandra, De Micco, Rosa, Brusa, Livia, Sorrentino, Cristiano, Matinella, Angela, Bertino, Salvatore, Paparella, Giulia, and Modugno, Nicola

Subjects
TREMOR, ESSENTIAL tremor, AGE of onset, DISEASE duration, AGE distribution, SEX distribution, DATABASES
Abstract

Background: To date, there are no large studies delineating the clinical correlates of "pure" essential tremor (ET) according to its new definition. Methods: From the ITAlian tremor Network (TITAN) database, we extracted data from patients with a diagnosis of "pure" ET and excluded those with other tremor classifications, including ET-plus, focal, and task-specific tremor, which were formerly considered parts of the ET spectrum. Results: Out of 653 subjects recruited in the TITAN study by January 2022, the data of 208 (31.8%) "pure" ET patients (86M/122F) were analyzed. The distribution of age at onset was found to be bimodal. The proportion of familial cases by the age-at-onset class of 20 years showed significant differences, with sporadic cases representing the large majority of the class with an age at onset above 60 years. Patients with a positive family history of tremor had a younger onset and were more likely to have leg involvement than sporadic patients despite a similar disease duration. Early-onset and late-onset cases were different in terms of tremor distribution at onset and tremor severity, likely as a function of longer disease duration, yet without differences in terms of quality of life, which suggests a relatively benign progression. Treatment patterns and outcomes revealed that up to 40% of the sample was unsatisfied with the current pharmacological options. Discussion: The findings reported in the study provide new insights, especially with regard to a possible inversed sex distribution, and to the genetic backgrounds of "pure" ET, given that familial cases were evenly distributed across age-at-onset classes of 20 years. Deep clinical profiling of "pure" ET, for instance, according to age at onset, might increase the clinical value of this syndrome in identifying pathogenetic hypotheses and therapeutic strategies. [ABSTRACT FROM AUTHOR]

Published
2023
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44. Parkinson’s disease patients have a complex phenotypic and functional Th1 bias: cross-sectional studies of CD4+ Th1/Th2/T17 and Treg in drug-naïve and drug-treated patients

Author

Kustrimovic, Natasa, Comi, Cristoforo, Magistrelli, Luca, Rasini, Emanuela, Legnaro, Massimiliano, Bombelli, Raffaella, Aleksic, Iva, Blandini, Fabio, Minafra, Brigida, Riboldazzi, Giulio, Sturchio, Andrea, Mauri, Marco, Bono, Giorgio, Marino, Franca, and Cosentino, Marco

Published
2018
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47. A Bayesian approach to Essential Tremor plus: A preliminary analysis of the TITAN cohort

Author

Angela Matinella, Sciarretta, Massimo, Perillo, Sandra, Giglio, Augusta, Raglione, Laura Maria, Terranova, Carmen, Altavista, Maria Concetta, Spagnolo, Francesca, Pecoraro, Pasquale Maria, Malaguti, Maria Chiara, Misceo, Salvatore, Zoccolella, Stefano, Marchese, Roberta, Benzi, Tiziana, Gallo, Silvia, Paparella, Giulia, Angelini, Luca, Lazzeri, Giulia, Franco, Giulia, Di Giacopo, Raffaella, De Micco, Rosa, Aramini, Simone, Ceravolo, Roberto, Mostile, Giovanni, Morgante, Francesca, Brusa, Livia, Erro, Roberto, Pilotto, Andrea, Magistrelli, Luca, Olivola, Enrica, Nicoletti, Alessandra, Di Fonzo, Alessio, Dallocchio, Carlo, Di Biasio, Francesca, Bologna, Matteo, Tessitore, Alessandro, De Rosa, Anna, Gigante, Angelo Fabio, Esposito, Marcello, Moschella, Vincenzo, di Biase, Lazzaro, Valentino, Francesca, Russo, Maria, Contaldi, Elena, Modugno, Nicola, Padovani, Alessandro, and Barone, Paolo

Published
2022
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48. Relationship between [123I]FP-CIT SPECT data and peripheral CD4 + T cell profile in newly-diagnosed drug-naïve Parkinson's disease patients.

Author

Contaldi, Elena, Magistrelli, Luca, Furgiuele, Alessia, Gallo, Silvia, and Comi, Cristoforo

Subjects
*PARKINSON'S disease, *T cells, *REGULATORY T cells, *MONONUCLEAR leukocytes, *CD4 antigen
Abstract

Background: Dysregulation of the CD4 + T cell compartment occurs in Parkinson's Disease (PD). Nonetheless, the exact relationship with dopamine transporter (DAT) SPECT denervation patterns is currently unknown. Methods: Expression of transcription factors and levels of circulating CD4 + T cell subsets were assessed in peripheral blood mononuclear cells (PBMC) from 23 newly diagnosed drug-naïve PD patients. Semi-quantitative [123I]-FP-CIT SPECT data, i.e. uptake in the most and least affected putamen (maP, laP) and caudate (maC, laC), total striatal binding ratio (tSBR), and total putamen-to-caudate ratio (tP/C) were obtained. Results: FOXP3 mRNA levels correlated with the uptake in maC (r = − 0.542, P = 0.011), laP (r = − 0.467, P = 0.033), and tSBR (r = − 0.483, P = 0.027). Concerning flow cytometry analysis of circulating CD4 + T cell subsets, a significant relationship between tP/C, caudate uptake, and the levels of both T helper (Th)1 and 2, was detected. Furthermore, we found significant correlations between the uptake in maP and the total count of naïve and activated T regulatory cells (Treg) (r = − 0.717, P = 0.001; r = − 0.691, P = 0.002), which were confirmed after the Benjamini–Hochberg correction for multiple comparisons using a false discovery rate at level q = 0.10. Levels of circulating naïve Treg were higher (P = 0.014) in patients with more extensive dopaminergic denervation, suggesting a compensatory phenomenon. Conclusions: Peripheral CD4 + T cell immunity is involved in early-stage PD and novel correlations with striatal DAT loss were observed. [ABSTRACT FROM AUTHOR]

Published
2023
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