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Start Over Author "Mazzucchi, S." Topic dystonia
13 results on '"Mazzucchi, S."'

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

Author

Idrissi S, Velucci V, Esposito M, Trinchillo A, Habestwallner F, Belvisi D, Fabbrini G, Ferrazzano G, Rizzo V, Terranova C, Girlanda P, Pellicciari R, Avanzino L, Di Biasio F, Marchese R, Bono F, Idone G, Laterza V, Lettieri C, Rinaldo S, Eleopra R, Castagna A, Altavista MC, Moschella V, Erro R, Barone P, Barbero P, Ceravolo R, Mazzucchi S, Mascia MM, Ercoli T, Muroni A, Zibetti M, Lopiano L, Scaglione CLM, Bentivoglio AR, Petracca M, Magistrelli L, Cotelli MS, Cossu G, Squintani GM, De Santis T, Schirinzi T, Misceo S, Pisani A, Berardelli A, and Defazio G

Subjects
Male, Adult, Humans, Female, Risk Factors, Registries, Italy epidemiology, Dystonia epidemiology, Dystonic Disorders epidemiology, Thyroid Diseases, Hypothyroidism epidemiology, Hyperthyroidism complications, Hyperthyroidism epidemiology
Abstract

A few earlier observations and recent controlled studies pointed to the possible contribution of thyroid diseases in idiopathic adult-onset dystonia (IAOD). The aim of this study was to investigate the association between thyroid status and clinical characteristics of IAOD, focusing on dystonia localization, spread, and associated features such as tremors and sensory tricks. Patients were identified from those included in the Italian Dystonia Registry, a multicentre dataset of patients with adult-onset dystonia. The study population included 1518 IAOD patients. Patients with hypothyroidism and hyperthyroidism were compared with those without any thyroid disease. In the 1518 IAOD patients, 167 patients (11%; 95% CI 9.5-12.6%) were diagnosed with hypothyroidism and 42 (2.8%; 95% CI 1.99-3.74) with hyperthyroidism. The three groups were comparable in age at dystonia onset, but there were more women than men in the groups with thyroid disease. Analysing the anatomical distribution of dystonia, more patients with blepharospasm were present in the hyperthyroidism group, but the difference did not reach statistical significance after the Bonferroni correction. The remaining dystonia-affected body sites were similarly distributed in the three groups, as did dystonia-associated features and spread. Our findings provided novel information indicating that the high rate of thyroid diseases is not specific for any specific dystonia subpopulation and does not appear to influence the natural history of the disease., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Austria, part of Springer Nature.)

Published
2024
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2. Perampanel as a novel treatment for subcortical myoclonus in myoclonus-dystonia syndrome.

Author

Belli E, Del Prete E, Unti E, Mazzucchi S, Palermo G, and Ceravolo R

Subjects
Female, Humans, Child, Middle Aged, Mutation genetics, Dystonia complications, Dystonia drug therapy, Dystonia diagnosis, Myoclonus complications, Myoclonus drug therapy, Myoclonus genetics, Dystonic Disorders complications, Dystonic Disorders drug therapy, Dystonic Disorders genetics
Abstract

Background: Myoclonus-dystonia (MD) is a syndrome characterized by subcortical myoclonus and milder dystonia. The main causative gene is the epsilon sarcoglycan gene (SGCE), but other genes may be involved. Response to medications is variable, with poor tolerability limiting their use., Case Presentation: We present the case of a patient with severe myoclonic jerks and mild dystonia since childhood. At first neurological visit at the age of 46 years old, she presented brief myoclonic jerks predominating in the upper limbs and neck, mild at rest and elicited by action, posture and tactile stimulus. Myoclonus was accompanied by mild neck and right arm dystonia. Neurophysiological tests suggested subcortical origin of myoclonus, brain MRI was unremarkable. Myoclonus-dystonia was diagnosed, and genetic testing identified a novel mutation in SGCE gene (c.907delC) in heterozygosis. Over time she assumed a large variety of anti-epileptics without beneficial effect on myoclonus and low tolerability. Add-on treatment with Perampanel was started, with a beneficial effect. No adverse events were reported. Perampanel is the first selective non-competitive AMPA receptor antagonist approved in add-on for focal and generalized tonic-clonic seizures. To our knowledge, this is the first trial of Perampanel in MD., Conclusions: We presented the case of a patient with MD due to SGCE mutation who was treated with Perampanel with beneficial effects. We propose Perampanel as a novel treatment for myoclonus in MD., (© 2023. Fondazione Società Italiana di Neurologia.)

Published
2023
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3. Functional motor phenotypes: to lump or to split?

Author

Tinazzi M, Geroin C, Marcuzzo E, Cuoco S, Ceravolo R, Mazzucchi S, Pilotto A, Padovani A, Romito LM, Eleopra R, Zappia M, Nicoletti A, Dallocchio C, Arbasino C, Bono F, Magro G, Demartini B, Gambini O, Modugno N, Olivola E, Bonanni L, Zanolin E, Albanese A, Ferrazzano G, De Micco R, Lopiano L, Calandra-Buonaura G, Petracca M, Esposito M, Pisani A, Manganotti P, Tesolin L, Teatini F, Ercoli T, Morgante F, and Erro R

Subjects
Humans, Phenotype, Tremor epidemiology, Dystonia, Dystonic Disorders, Movement Disorders epidemiology
Abstract

Introduction: Functional motor disorders (FMDs) are usually categorized according to the predominant phenomenology; however, it is unclear whether this phenotypic classification mirrors the underlying pathophysiologic mechanisms., Objective: To compare the characteristics of patients with different FMDs phenotypes and without co-morbid neurological disorders, aiming to answer the question of whether they represent different expressions of the same disorder or reflect distinct entities., Methods: Consecutive outpatients with a clinically definite diagnosis of FMDs were included in the Italian registry of functional motor disorders (IRFMD), a multicenter data collection platform gathering several clinical and demographic variables. To the aim of the current work, data of patients with isolated FMDs were extracted., Results: A total of 176 patients were included: 58 with weakness, 40 with tremor, 38 with dystonia, 23 with jerks/facial FMDs, and 17 with gait disorders. Patients with tremor and gait disorders were older than the others. Patients with functional weakness had more commonly an acute onset (87.9%) than patients with tremor and gait disorders, a shorter time lag from symptoms onset and FMDs diagnosis (2.9 ± 3.5 years) than patients with dystonia, and had more frequently associated functional sensory symptoms (51.7%) than patients with tremor, dystonia and gait disorders. Patients with dystonia complained more often of associated pain (47.4%) than patients with tremor. No other differences were noted between groups in terms of other variables including associated functional neurological symptoms, psychiatric comorbidities, and predisposing or precipitating factors., Conclusions: Our data support the evidence of a large overlap between FMD phenotypes., (© 2021. The Author(s).)

Published
2021
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4. Botulinum toxin for the treatment of dystonia and pain in corticobasal syndrome.

Author

Unti E, Mazzucchi S, Calabrese R, Palermo G, Del Prete E, Bonuccelli U, and Ceravolo R

Subjects
Aged, Female, Humans, Longitudinal Studies, Syndrome, Treatment Outcome, Botulinum Toxins, Type A therapeutic use, Dystonia drug therapy, Dystonia etiology, Pain drug therapy, Pain etiology, Tauopathies complications
Abstract

Background: Dystonia is a key symptom in corticobasal syndrome (CBS), and upper limb dystonia is the most common phenotype. Dystonia-associated pain is frequently reported and can be disabling, with poor benefit from oral treatments., Aims of the Study: To investigate the role of botulinum toxin A (BoTNA) in the treatment of dystonia and associated pain in CBS., Methods: Ten consecutive patients with a clinical diagnosis of probable CBS and dystonia with/without associated pain were treated with BoTNA every 3 months. Treatment efficacy was assessed during the first follow-up visit, three months after the first injection, by means of caregiver impression (CI), evaluation of muscle tone with the Ashworth scale (AS), severity of pain measured with the visual analog scale (VAS)., Results: Nine subjects underwent at least three treatments, four patients discontinued for progressive reduction in efficacy or disease progression, five patients are ongoing with good response, and one completed the 10th treatment. No local or systemic side effects were reported, and levodopa equivalent daily dose remained unchanged in most cases during the observational period. Significant improvement of AS was recorded (from 2.9 ± 0.7 to 2.0 ± 0.5, p = 0.003). CI ranged from mild to moderate benefit. All patients reported efficacy on pain, with a significant reduction of VAS score (from 7.7 ± 1.7 to 1.7 ± 0.7 in the Pain group, p = 0.016)., Conclusions: Our study confirms safety, efficacy, and tolerability of BoTNA in the treatment of dystonia associated with CBS. Local treatment should be considered as a valid alternative to oral treatment modulation mainly in the presence of associated pain., (© 2019 The Authors. Brain and Behavior published by Wiley Periodicals, Inc.)

Published
2019
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5. Phenotypic Variability in Acquired and Idiopathic Dystonia

Author

Defazio, G, Gigante, Af, Erro, R, Belvisi, D, Esposito, M, Trinchillo, A, De Joanna, G, Ceravolo, R, Mazzucchi, S, Unti, E, Barone, P, Scannapieco, S, Cotelli, Ms, Turla, M, Bianchi, M, Bertolasi, L, Pisani, A, Valentino, F, Altavista, Mc, Moschella, V, Girlanda, P, Terranova, C, Bono, F, Spano, G, Fabbrini, G, Ferrazzano, G, Albanese, A, Castagna, A, Cassano, D, Moja, Mc, Pellicciari, R, Bentivoglio, Ar, Eleopra, R, Cossu, G, Ercoli, T, Mascia, Mm, Di Biasio, F, Misceo, S, Magistrelli, L, Romano, M, Scaglione, Clm, Tinazzi, M, Maderna, L, Zibetti, M, and Berardelli, A

Subjects
clinical phenomenology, acquired, idiopathic, dystonia
Published
2023

6. Pisa syndrome in Parkinson disease

Author

Tinazzi, M, Fasano, A, Geroin, C, Morgante, F, Ceravolo, R, Rossi, S, Thomas, A, Fabbrini, G, Bentivoglio, A, Tamma, F, Cossu, G, Modugno, N., Zappia, M, Volonte, MA, Dallocchio, C, Abbruzzese, G, Pacchetti, C, Marconi, R, Defazio, G, Canesi, M, Cannas, A, Pisani, A, Mirandola, R, Barone, P, Vitale, C, Allocca, R, Altavilla, T, Bisoffi, G, Bombieri, F, Bove, F, Bovi, T, Cerbarano, L, Cordano, C, Di Giacomo, R, Di Stefano, F, Erro, R, Gallerini, S, Gandolfi, M, Gigante, AF, Juergenson, I, Lena, F, Leocani, LM, Lucchese, V, Madeo, G, Mazzucchi, S, Moccia, Marcello, Nicoletti, A, Ottaviani, S, Pezzoli, G, Pozzi, N, Ricciardi, L, Santangelo, G, Sarchioto, M, Schena, F, Sciaretta, M, Smania, N, Solla, P, Spagnolo, F, Ulivelli, M., Tinazzi, M, Fasano, A, Geroin, C, Morgante, F, Ceravolo, R, Rossi, S, Thomas, A, Fabbrini, G, Bentivoglio, A, Tamma, F, Cossu, G, Modugno, N., Zappia, M, Volonte, Ma, Dallocchio, C, Abbruzzese, G, Pacchetti, C, Marconi, R, Defazio, G, Canesi, M, Cannas, A, Pisani, A, Mirandola, R, Barone, P, Vitale, C, Allocca, R, Altavilla, T, Bisoffi, G, Bombieri, F, Bove, F, Bovi, T, Cerbarano, L, Cordano, C, Di Giacomo, R, Di Stefano, F, Erro, R, Gallerini, S, Gandolfi, M, Gigante, Af, Juergenson, I, Lena, F, Leocani, Lm, Lucchese, V, Madeo, G, Mazzucchi, S, Moccia, Marcello, Nicoletti, A, Ottaviani, S, Pezzoli, G, Pozzi, N, Ricciardi, L, Santangelo, G, Sarchioto, M, Schena, F, Sciaretta, M, Smania, N, Solla, P, Spagnolo, F, and Ulivelli, M.

Subjects
Cross-Sectional Studie, Levodopa, Male, Dystonia, Italy, Female, Parkinson Disease, Syndrome, Cohort Studie, Middle Aged, Aged, Dopamine Agonist, Human
Published
2015

7. Pisa syndrome in Parkinson disease

Author

Tinazzi, M., Fasano, A., Geroin, C., Morgante, F., Ceravolo, R., Rossi, S., Thomas, A., Fabbrini, G., Bentivoglio, A., Tamma, F., Cossu, G., Modugno, N., Zappia, M., Volontè, M. A., Dallocchio, C., Abbruzzese, G., Pacchetti, C., Marconi, R., Defazio, G., Canesi, M., Cannas, A., Pisani, A., Mirandola, R., Barone, P., Vitale, C., Italian Pisa Syndrome Study Group, Allocca, R., Altavilla, T., Bisoffi, G., Bombieri, F., Bove, F., Bovi, T., Cerbarano, L., Cordano, C., Di Giacomo, R., Di Stefano, F., Erro, R., Gallerini, S., Gandolfi, M., Gigante, A. F., Juergenson, I., Lena, F., Leocani, L. M., Lucchese, V., Madeo, G., Mazzucchi, S., Moccia, M., Nicoletti, A., Ottaviani, S., Pezzoli, G., Santangelo, G., Sarchioto, M., Schena, F., Sciarretta, M., Smania, N., Solla, P., Spagnolo, F., and Ulivelli, M.

Subjects
Male, Aged, Cohort Studies, Cross-Sectional Studies, Dopamine Agonists, Dystonia, Female, Humans, Italy, Levodopa, Middle Aged, Parkinson Disease, Syndrome, Neurology (clinical)
Published
2015

8. Pisa syndrome in Parkinson disease: An observational multicenter Italian study

Author

Tinazzi, Michele, Fasano, Alfonso, Geroin, Christian, Morgante, Francesca, Ceravolo, Roberto, Rossi, Simone, Thomas, Astrid, Fabbrini, Giovanni, Bentivoglio, Annarita, Tamma, Filippo, Cossu, Giovanni, Modugno, Nicola, Zappia, Mario, Volontè, Maria Antonietta, Dallocchio, Carlo, Abbruzzese, Giovanni, Pacchetti, Claudio, Marconi, Roberto, Defazio, Giovanni, Canesi, Margherita, Cannas, Antonino, Pisani, Antonio, Mirandola, Rina, Barone, Paolo, Vitale, Carmine, Allocca, R, Altavilla, T, Bisoffi, G, Bombieri, F, Bove, F, Bovi, T, Cerbarano, L, Cordano, C, Di Giacomo, R, Di Stefano, F, Erro, R, Gallerini, S, Gandolfi, M, Gigante, Af, Juergenson, I, Lena, F, Leocani, Lm, Lucchese, V, Madeo, G, Mazzucchi, S, Moccia, M, Nicoletti, A, Ottaviani, S, Pezzoli, G, Pozzi, N, Ricciardi, L, Santangelo, G, Sarchioto, M, Schena, F, Sciarretta, M, Smania, N, Solla, P, Spagnolo, F, Ulivelli, M., Tinazzi, Michele, Fasano, Alfonso, Geroin, Christian, Morgante, Francesca, Ceravolo, Roberto, Rossi, Simone, Thomas, Astrid, Fabbrini, Giovanni, Bentivoglio, Annarita, Tamma, Filippo, Cossu, Giovanni, Modugno, Nicola, Zappia, Mario, Volonte, Maria Antonietta, Dallocchio, Carlo, Abbruzzese, Giovanni, Pacchetti, Claudio, Marconi, Roberto, Defazio, Giovanni, Canesi, Margherita, Cannas, Antonino, Pisani, Antonio, Mirandola, Rina, Barone, Paolo, Vitale, Carmine, On behalf of the ItalianPisa Syndrome, Studygroup, and Leocani, L

Subjects
Camptocormia, Parkinson's Disease, Kyphosis, Male, medicine.medical_specialty, Levodopa, Movement disorders, Cross-sectional study, assessment, Logistic regression, patients, Cohort Studies, Quality of life, Internal medicine, Neurology (clinical), progression, patient, flexion, Medicine, Humans, Aged, Cross-Sectional Studies, Dopamine Agonists, Dystonia, Female, Italy, Middle Aged, Parkinson Disease, Syndrome, Medicine (all), business.industry, pisa syndrome, parkinson's disease, Confidence interval, pisa syndrome, parkinson's disease, Physical therapy, Pisa syndrome, Parkinson disease, patients, assessment, Settore MED/26 - Neurologia, medicine.symptom, business, Complication, Cohort study, medicine.drug
Abstract

Objective: To estimate the prevalence of Pisa syndrome (PS) in patients with Parkinson disease (PD) and to assess the association between PS and demographic and clinical variables. Methods: In this multicenter cross-sectional study, consecutive outpatients with PD attending 21 movement disorders Italian tertiary centers were enrolled and underwent standardized clinical evaluation. PS was defined as trunk lateral deviation ≥10°. Patients with PD were compared according to the presence of PS for several demographic and clinical variables. Results: Among 1,631 enrolled patients with PD, PS was detected in 143 patients (8.8%, 95% confidence interval 7.4%–10.3%). Patients with PS were older, had lower body mass index, longer disease duration, higher disease stages, and poorer quality of life. Falls were more frequent in the PS group as well as occurrence of “veering gait” (i.e., the progressive deviation toward one side when patient walked forward and backward with eyes closed). Patients with PS received higher daily levodopa equivalent daily dose and were more likely to be treated with combination of levodopa and dopamine agonists. Osteoporosis and arthrosis were significantly the most frequent associated medical conditions in patients with PS. Multiple explanatory variable logistic regression models confirmed the association of PS with the following variables: Hoehn and Yahr stage, ongoing combined treatment with levodopa and dopamine agonist, associated medical conditions, and presence of veering gait. Conclusions: Our results suggest that PS is a relatively frequent and often disabling complication in PD, especially in the advanced disease stages. The association is dependent on a number of potentially relevant demographic and clinical variables.

9. Clinical Correlates of Functional Motor Disorders: An Italian Multicenter Study

Author

Carlo Dallocchio, Giovanni Defazio, Alessandro Tessitore, Sonia Mazzucchi, Roberto Ceravolo, Fabrizio Stocchi, Roberto Erro, Christian Geroin, Martina Petracca, Alessandro Padovani, Alessandra Nicoletti, Francesca Morgante, Antonio Pisani, Alberto Albanese, Vincenzo Di Stefano, Paolo Barone, Benedetta Demartini, Luigi Romito, Angelo Pascarella, Michele Tinazzi, Angelo Antonini, Giovanna Calandra-Buonaura, Maurizio Zibetti, Enrica Olivola, Roberto Eleopra, Marcello Esposito, Mario Coletti Moja, Orsola Gambini, Mario Zappia, Francesco Bono, Andrea Pilotto, Nicola Modugno, Enrico Marcuzzo, Paolo Manganotti, Carla Arbasino, Gina Ferrazzano, Tinazzi Michele, Morgante Francesca, Marcuzzo Enrico, Erro Roberto, Barone Paolo, Ceravolo Roberto, Mazzucchi Sonia, Pilotto Andrea, Padovani Alessandro, Romito Luigi M, Eleopra Roberto, Zappia Mario, Nicoletti Alessandra, Dallocchio Carlo, Arbasino Carla, Bono F, Pascarella A, Demartini B, Gambini O, Modugno N, Olivola E, Di Stefano V, Albanese A, Ferrazzano G, Tessitore Alessandro, Zibetti Maurizio, Calandra Buonaura Giovanna, Petracca Martina, Esposito Marcello, Pisani Antonio, Manganotti Paolo, Stocchi Fabrizio, Coletti Moja Mario, Antonini Angelo, Defazio Giovanni, Geroin Christian., Tinazzi M., Morgante F., Marcuzzo E., Erro R., Barone P., Ceravolo R., Mazzucchi S., Pilotto A., Padovani A., Romito L.M., Eleopra R., Zappia M., Nicoletti A., Dallocchio C., Arbasino C., Bono F., Pascarella A., Demartini B., Gambini O., Modugno N., Olivola E., Di Stefano V., Albanese A., Ferrazzano G., Tessitore A., Zibetti M., Calandra-Buonaura G., Petracca M., Esposito M., Pisani A., Manganotti P., Stocchi F., Coletti Moja M., Antonini A., Defazio G., Geroin C., Tinazzi, M., Morgante, F., Marcuzzo, E., Erro, R., Barone, P., Ceravolo, R., Mazzucchi, S., Pilotto, A., Padovani, A., Romito, L. M., Eleopra, R., Zappia, M., Nicoletti, A., Dallocchio, C., Arbasino, C., Bono, F., Pascarella, A., Demartini, B., Gambini, O., Modugno, N., Olivola, E., Di Stefano, V., Albanese, A., Ferrazzano, G., Tessitore, A., Zibetti, M., Calandra-Buonaura, G., Petracca, M., Esposito, M., Pisani, A., Manganotti, P., Stocchi, F., Coletti Moja, M., Antonini, A., Defazio, G., and Geroin, C.

Subjects
0301 basic medicine, Weakness, Pediatrics, medicine.medical_specialty, Movement disorders, functional neurological disorders, diagnosis, Population, functional weakne, Disease, 030105 genetics & heredity, functional weakness, 03 medical and health sciences, 0302 clinical medicine, functional neurological disorder, medicine, education, Research Articles, education.field_of_study, functional dystonia, functional tremor, business.industry, functional neurological disorders, functional dystonia, functional tremor, functional weakness, diagnosis, Functional weakness, tremor, Neurology, Multicenter study, Anxiety, Settore MED/26 - Neurologia, Observational study, dystonia, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

Background\ud Functional motor disorders (FMDs) are abnormal movements that are significantly altered by distractive maneuvers and are incongruent with movement disorders seen in typical neurological diseases.\ud \ud Objective\ud The objectives of this article are to (1) describe the clinical manifestations of FMDs, including nonmotor symptoms and occurrence of other functional neurological disorders (FND); and (2) to report the frequency of isolated and combined FMDs and their relationship with demographic and clinical variables.\ud \ud Methods\ud For this multicenter, observational study, we enrolled consecutive outpatients with a definite diagnosis of FMDs attending 25 tertiary movement disorders centers in Italy. Each patient underwent a detailed clinical evaluation with a definition of the phenotype and number of FMDs (isolated, combined) and an assessment of associated neurological and psychiatric symptoms.\ud \ud Results\ud Of 410 FMDs (71% females; mean age, 47 ± 16.1 years) the most common phenotypes were weakness and tremor. People with FMDs had higher educational levels than the general population and frequent nonmotor symptoms, especially anxiety, fatigue, and pain. Almost half of the patients with FMDs had other FNDs, such as sensory symptoms, nonepileptic seizures, and visual symptoms. Patients with combined FMDs showed a higher burden of nonmotor symptoms and more frequent FNDs. Multivariate regression analysis showed that a diagnosis of combined FMDs was more likely to be delivered by a movement disorders neurologist. Also, FMD duration, pain, insomnia, diagnosis of somatoform disease, and treatment with antipsychotics were all significantly associated with combined FMDs.\ud \ud Conclusions\ud Our findings highlight the need for multidimensional assessments in patients with FMDs given the high frequency of nonmotor symptoms and other FNDs, especially in patients with combined FMDs.

Published
2020

10. Functional motor disorders associated with other neurological diseases: Beyond the boundaries of 'organic' neurology

Author

Alessandro Padovani, Alessandra Nicoletti, Angelo Pascarella, Giovanna Calandra-Buonaura, Fabrizio Stocchi, Orsola Gambini, Laura Bonanni, Marcello Esposito, Martina Petracca, Roberto Ceravolo, Sonia Mazzucchi, Sofia Cuoco, Angelo Antonini, Benedetta Demartini, Antonio Pisani, Andrea Pilotto, Elisabetta Zanolin, Roberto Eleopra, Alberto Albanese, Mario Coletti Moja, Luigi Romito, Michele Tinazzi, Elena Antelmi, Francesco Bono, Enrico Marcuzzo, Roberto Erro, Christian Geroin, Tommaso Ercoli, Mario Zappia, Nicola Modugno, Rosa De Micco, Gina Ferrazzano, Enrica Olivola, Francesca Morgante, Leonardo Lopiano, Carlo Dallocchio, Paolo Manganotti, Carla Arbasino, Tinazzi, Michele, Geroin, Christian, Erro, Roberto, Marcuzzo, Enrico, Cuoco, Sofia, Ceravolo, Roberto, Mazzucchi, Sonia, Pilotto, Andrea, Padovani, Alessandro, Romito, Luigi Michele, Eleopra, Roberto, Zappia, Mario, Nicoletti, Alessandra, Dallocchio, Carlo, Arbasino, Carla, Bono, Francesco, Pascarella, Angelo, Demartini, Benedetta, Gambini, Orsola, Modugno, Nicola, Olivola, Enrica, Bonanni, Laura, Antelmi, Elena, Zanolin, Elisabetta, Albanese, Alberto, Ferrazzano, Gina, de Micco, Rosa, Lopiano, Leonardo, Calandra-Buonaura, Giovanna, Petracca, Martina, Esposito, Marcello, Pisani, Antonio, Manganotti, Paolo, Stocchi, Fabrizio, Coletti Moja, Mario, Antonini, Angelo, Ercoli, Tommaso, Morgante, Francesca, Tinazzi, M., Geroin, C., Erro, R., Marcuzzo, E., Cuoco, S., Ceravolo, R., Mazzucchi, S., Pilotto, A., Padovani, A., Romito, L. M., Eleopra, R., Zappia, M., Nicoletti, A., Dallocchio, C., Arbasino, C., Bono, F., Pascarella, A., Demartini, B., Gambini, O., Modugno, N., Olivola, E., Bonanni, L., Antelmi, E., Zanolin, E., Albanese, A., Ferrazzano, G., de Micco, R., Lopiano, L., Calandra-Buonaura, G., Petracca, M., Esposito, M., Pisani, A., Manganotti, P., Stocchi, F., Coletti Moja, M., Antonini, A., Ercoli, T., Morgante, F., and Tinazzi M, Geroin C, Erro R, Marcuzzo E, Cuoco S, Ceravolo R, Mazzucchi S, Pilotto A, Padovani A, Romito LM, Eleopra R, Zappia M, Nicoletti A, Dallocchio C, Arbasino C, Bono F, Pascarella A, Demartini B, Gambini O, Modugno N, Olivola E, Bonanni L, Antelmi E, Zanolin E, Albanese A, Ferrazzano G, de Micco R, Lopiano L, Calandra Buonaura Giovanna, Petracca M, Esposito M, Pisani A, Manganotti P, Stocchi F, Coletti Moja M, Antonini A, Ercoli T, Morgante F.

Subjects
Pediatrics, medicine.medical_specialty, Neurology, functional neurological disorders, organic, Motor Disorders, functional dystonia, functional tremor, functional weakness, neurological diseases, functional weakne, Disease, Logistic regression, 03 medical and health sciences, Humans, Tremor, Depressive Disorder, Major, Movement Disorders, 0302 clinical medicine, functional neurological disorder, medicine, 030212 general & internal medicine, neurological disease, Depressive Disorder, business.industry, Parkinsonism, Major, Functional weakness, Odds ratio, medicine.disease, Settore MED/26 - NEUROLOGIA, Migraine, Observational study, Neurology (clinical), dystonia, business, 030217 neurology & neurosurgery
Abstract

Background and purpose\ud The aims of this study were to describe the clinical manifestations of functional motor disorders (FMDs) coexisting with other neurological diseases (“comorbid FMDs”), and to compare comorbid FMDs with FMDs not overlapping with other neurological diseases (“pure FMDs”).\ud \ud Methods\ud For this multicenter observational study, we enrolled outpatients with a definite FMD diagnosis attending 25 tertiary movement disorder centers in Italy. Each patient with FMDs underwent a detailed clinical assessment including screening for other associated neurological conditions. Group comparisons (comorbid FMDs vs. pure FMDs) were performed in order to compare demographic and clinical variables. Logistic regression models were created to estimate the adjusted odds ratios (95% confidence intervals) of comorbid FMDs (dependent variable) in relation to sociodemographic and clinical characteristics (independent variables).\ud \ud Results\ud Out of 410 FMDs, 21.7% of patients (n = 89) had comorbid FMDs. The most frequent coexisting neurological diseases were migraine, cerebrovascular disease and parkinsonism. In the majority of cases (86.5%), FMDs appeared after the diagnosis of a neurological disease. Patients with comorbid FMDs were older, and more frequently had tremor, non‐neurological comorbidities, paroxysmal non‐epileptic seizures, major depressive disorders, and benzodiazepine intake. Multivariate regression analysis showed that diagnosis of comorbid FMDs was more likely associated with longer time lag until the final diagnosis of FMD, presence of tremor and non‐neurological comorbidities.\ud \ud Conclusions\ud Our findings highlight the need for prompt diagnosis of FMDs, given the relatively high frequency of associated neurological and non‐neurological diseases.

Published
2020

11. Functional motor phenotypes: to lump or to split?

Author

Laura Bonanni, Roberto Ceravolo, Mario Zappia, Sofia Cuoco, Enrico Marcuzzo, Giovanna Calandra-Buonaura, Alberto Albanese, Martina Petracca, Gina Ferrazzano, Francesco Bono, Alessandra Nicoletti, Benedetta Demartini, Rosa De Micco, Nicola Modugno, Enrica Olivola, Roberto Eleopra, Carlo Dallocchio, Paolo Manganotti, Antonio Pisani, Lucia Tesolin, Alessandro Padovani, Christian Geroin, Carla Arbasino, Luigi Romito, Leonardo Lopiano, Sonia Mazzucchi, Francesca Morgante, Elisabetta Zanolin, Francesco Teatini, Andrea Pilotto, Tommaso Ercoli, Michele Tinazzi, Marcello Esposito, Roberto Erro, Orsola Gambini, Giuseppe Magro, Tinazzi, Michele, Geroin, Christian, Marcuzzo, Enrico, Cuoco, Sofia, Ceravolo, Roberto, Mazzucchi, Sonia, Pilotto, Andrea, Padovani, Alessandro, Romito, Luigi Michele, Eleopra, Roberto, Zappia, Mario, Nicoletti, Alessandra, Dallocchio, Carlo, Arbasino, Carla, Bono, Francesco, Magro, Giuseppe, Demartini, Benedetta, Gambini, Orsola, Modugno, Nicola, Olivola, Enrica, Bonanni, Laura, Zanolin, Elisabetta, Albanese, Alberto, Ferrazzano, Gina, De Micco, Rosa, Lopiano, Leonardo, Calandra-Buonaura, Giovanna, Petracca, Martina, Esposito, Marcello, Pisani, Antonio, Manganotti, Paolo, Tesolin, Lucia, Teatini, Francesco, Ercoli, Tommaso, Morgante, Francesca, Erro, Roberto, Tinazzi M., Geroin C., Marcuzzo E., Cuoco S., Ceravolo R., Mazzucchi S., Pilotto A., Padovani A., Romito L.M., Eleopra R., Zappia M., Nicoletti A., Dallocchio C., Arbasino C., Bono F., Magro G., Demartini B., Gambini O., Modugno N., Olivola E., Bonanni L., Zanolin E., Albanese A., Ferrazzano G., De Micco R., Lopiano L., Calandra Buonaura G., Petracca M., Esposito M., Pisani A., Manganotti P., Tesolin L., Teatini F., Ercoli T., Morgante F., and Erro R.

Subjects
Psychogenic movement disorder, medicine.medical_specialty, Weakness, Neurology, 03 medical and health sciences, 0302 clinical medicine, Acute onset, Physical medicine and rehabilitation, Functional dystonia, Functional neurological disorders, Functional tremor, Functional weakness, Non-motor features, Psychogenic movement disorders, Tremor, medicine, Humans, Gait disorders, Sensory symptoms, Neuroradiology, Dystonia, Original Communication, Movement Disorders, business.industry, Phenotype, Dystonic Disorders, Dystonic Disorder, Functional weakne, medicine.disease, 030227 psychiatry, Neurology (clinical), medicine.symptom, Functional neurological disorder, business, Non-motor feature, 030217 neurology & neurosurgery, Human
Abstract

Introduction Functional motor disorders (FMDs) are usually categorized according to the predominant phenomenology; however, it is unclear whether this phenotypic classification mirrors the underlying pathophysiologic mechanisms. Objective To compare the characteristics of patients with different FMDs phenotypes and without co-morbid neurological disorders, aiming to answer the question of whether they represent different expressions of the same disorder or reflect distinct entities. Methods Consecutive outpatients with a clinically definite diagnosis of FMDs were included in the Italian registry of functional motor disorders (IRFMD), a multicenter data collection platform gathering several clinical and demographic variables. To the aim of the current work, data of patients with isolated FMDs were extracted. Results A total of 176 patients were included: 58 with weakness, 40 with tremor, 38 with dystonia, 23 with jerks/facial FMDs, and 17 with gait disorders. Patients with tremor and gait disorders were older than the others. Patients with functional weakness had more commonly an acute onset (87.9%) than patients with tremor and gait disorders, a shorter time lag from symptoms onset and FMDs diagnosis (2.9 ± 3.5 years) than patients with dystonia, and had more frequently associated functional sensory symptoms (51.7%) than patients with tremor, dystonia and gait disorders. Patients with dystonia complained more often of associated pain (47.4%) than patients with tremor. No other differences were noted between groups in terms of other variables including associated functional neurological symptoms, psychiatric comorbidities, and predisposing or precipitating factors. Conclusions Our data support the evidence of a large overlap between FMD phenotypes.

Published
2021

12. Does acute peripheral trauma contribute to idiopathic adult-onset dystonia?

Author

Francesca Di Biasio, Roberto Ceravolo, Giovanni Fabbrini, Valentina Durastanti, Fiore Manganelli, Marcello Esposito, Maria Concetta Altavista, Marcello Mario Mascia, Nicola Tambasco, Alberto Albanese, Luca Maderna, Roberta Pellicciari, Cesa Scaglione, Tommaso Ercoli, Anna Castagna, Stefania Lalli, Marcello Romano, Paolo Girlanda, Giulio Demonte, Michele Tinazzi, Alfredo Berardelli, Francesca Morgante, Laura Bertolasi, Maria Cotelli, Antonio Pisani, Marinella Turla, Valentina Oppo, Marco Aguggia, Paolo Barone, Giovanni Cossu, Nicola Modugno, Francesco Silvestre, Maurizio Zibetti, Salvatore Misceo, Roberto Eleopra, Grazia Devigili, Giulia Di Lazzaro, Roberta Marchese, Giovanna Squintani, Gina Ferrazzano, Daniela Cassano, Luca Magistrelli, Domenico Santangelo, P. Barbero, Sonia Mazzucchi, Giovanni Defazio, Roberto Erro, Francesco Bono, Brigida Minafra, Martina Petracca, Anna Rita Bentivoglio, Mario Coletti Moja, Laura Avanzino, Defazio, G., Fabbrini, G., Erro, R., Albanese, A., Barone, P., Zibetti, M., Esposito, M., Pellicciari, R., Avanzino, L., Bono, F., Eleopra, R., Bertolasi, L., Altavista, M. C., Cotelli, M. S., Ceravolo, R., Scaglione, C., Bentivoglio, A. R., Cossu, G., Coletti Moja, M., Girlanda, P., Misceo, S., Pisani, A., Mascia, M. M., Ercoli, T., Tinazzi, M., Maderna, L., Minafra, B., Magistrelli, L., Romano, M., Aguggia, M., Tambasco, N., Castagna, A., Cassano, D., Berardelli, A., Ferrazzano, G., Lalli, S., Silvestre, F., Manganelli, F., Di Biasio, F., Marchese, R., Demonte, G., Santangelo, D., Devigili, G., Durastanti, V., Turla, M., Mazzucchi, S., Petracca, M., Oppo, V., Barbero, P., Morgante, F., Di Lazzaro, G., Squintani, G., and Modugno, N.

Subjects
0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Injury, Trauma, 03 medical and health sciences, 0302 clinical medicine, Dystonia, Acute Disease, Aged, Dystonic Disorders, Female, Humans, Italy, Middle Aged, Peripheral Nerve Injuries, Retrospective Studies, Risk Factors, Registries, otorhinolaryngologic diseases, Medicine, Risk factor, Medical attention, Secondary Dystonia, business.industry, medicine.disease, nervous system diseases, Peripheral, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Neurology (clinical), Geriatrics and Gerontology, business, Acute trauma, 030217 neurology & neurosurgery
Abstract

Background Acute peripheral trauma is a controversial risk factor for idiopathic dystonia. Materials and methods We retrospectively analyzed data from the Italian Dystonia Registry regarding the occurrence of acute peripheral trauma severe enough to require medical attention in 1382 patients with adult-onset idiopathic dystonia and 200 patients with acquired adult-onset dystonia. Results Patients with idiopathic and acquired dystonia showed a similar burden of peripheral trauma in terms of the number of patients who experienced trauma (115/1382 vs. 12/200, p = 0.3) and the overall number of injuries (145 for the 1382 idiopathic patients and 14 for the 200 patients with secondary dystonia, p = 0.2). Most traumas occurred before the onset of idiopathic or secondary dystonia but only a minority of such injuries (14 in the idiopathic group, 2 in the acquired group, p = 0.6) affected the same body part as that affected by dystonia. In the idiopathic group, the elapsed time between trauma and dystonia onset was 8.1 ± 9.2 years; only six of the 145 traumas (4.1%) experienced by 5/1382 idiopathic patients (0.36%) occurred one year or less before dystonia onset; in the acquired dystonia group, the two patients experienced prior trauma to the dystonic body part 5 and 6 years before dystonia development. Discussion and conclusion Our data suggest that the contribution of peripheral acute trauma to idiopathic dystonia is negligible, if anything, and likely involves only a small subset of patients.

Published
2020

13. 92. Brainstem reflexes: New tools for differential diagnosis between idiopathic and psychogenic cervical dystonia?

Author

Briscese, L., Carboncini, M.C., Barloscio, D., Crecchi, A., Parenti, L., Mazzucchi, S., Rossi, B., Sartucci, F., and Bocci, T.

Subjects
*DYSTONIA, *TREATMENT of dystonia, *PSYCHOGENESIS, *BRAIN stem, *REFLEXES, *DIFFERENTIAL diagnosis, *DIAGNOSIS
Abstract

Cervical idiopathic dystonia (CID) is the most common kind of primary dystonia, but its pathogenesis remains still unclear. As in other movement disorders, the major challenge is to recognize the organic from the psychogenic phenotype. Our objective was to evaluate the reliability of blink reflex test (BRT) in detecting powerful differences in patients with diagnosis of CID or (clinically presumed) psychogenic dystonia (PD). Twelve subjects were enrolled (6 CID, 6 PD), and BRT was assessed in term of R1 and R2 latencies and habituation phenomenon (trains of 10 stimulus, 1 Hz of frequency, 200 ms of duration). Electrodes were placed over the orbicular inferior muscle (recording electrode) and lateral canthus (reference). CID patients showed both an enhanced latency of polysynaptic R2 responses and a lack of habituation compared with subjects diagnosed as PD ( t -test: p < 0.001). Our results support the hypothesis of a dysfunction of brainstem reflex circuits on the basis of CID. As in Parkinson Disease, one could speculate that this phenomenon relies on changes in the inhibitory drive from basal ganglia output structures, via tecto-reticular projections, to the superior colliculus. [ABSTRACT FROM AUTHOR]

Published
2016
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