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2. Impact of Supporting People with Advanced Parkinson’s Disease on Carer’s Quality of Life and Burden

Author

Modugno N, Antonini A, Tessitore A, Marano P, Pontieri FE, Tambasco N, Canesi M, Fabbrini G, Sensi M, Quatrale R, Solla P, Defazio G, Melzi G, Gualberti G, and Lopiano L

Subjects
advanced parkinson’s disease, levodopa/carbidopa, intestinal infusion, caregiver burden, quality of life, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Nicola Modugno,1 Angelo Antonini,2 Alessandro Tessitore,3 Pietro Marano,4 Francesco Ernesto Pontieri,5,6 Nicola Tambasco,7 Margherita Canesi,8,9 Giovanni Fabbrini,10,11 Mariachiara Sensi,12 Rocco Quatrale,13 Paolo Solla,14 Giovanni Defazio,14 Gabriella Melzi,15 Giuliana Gualberti,15 Leonardo Lopiano16 1Neurology Unit, IRCCS Neuromed, Pozzilli, Italy; 2Parkinson and Movement Disorder Unit, Department of Neuroscience, University of Padua, Padua, Italy; 3Department of Medical and Surgery Sciences, University of Campania, “Luigi Vanvitelli”, Naples, Italy; 4Casa di Cura Madonna del Rosario, Raggruppamento di Riabilitazione, Catania, Italy; 5Department NESMOS, “Sapienza” University, Sant’Andrea Hospital, Roma, Italy; 6IRCCS Fondazione Santa Lucia, Roma, Italy; 7Department of Neurology, Perugia General Hospital and University of Perugia, Perugia, Italy; 8Dipartimento di Riabilitazione Malattia di Parkinson e Disordini del Movimento, Gravi Cerebrolesioni Acquisite, Italia Hospital - Ospedale “Moriggia-Pelascini”, Gravedona ed Uniti, Como, Italy; 9Centro Parkinson e Disordini del Movimento, CTO, G Pini, Milano, Italy; 10Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy; 11IRCCS Neuromed, Pozzilli, Isernia, Italy; 12Neurology Unit, Hospital Sant’Anna, Ferrara, Italy; 13Neurology Unit, Hospital dell’Angelo, Mestre, VE, Italy; 14Neurology Unit, Policlinico Universitario Monserrato, Cagliari, Italy; 15Medical Department, AbbVie Srl, Roma, Italy; 16Department of Neuroscience “Rita Levi Montalcini” University of Torino, Azienda Ospedaliero-Universitaria Città Della Salute e Della Scienza di Torino, Torino, ItalyCorrespondence: Gabriella MelziAbbVie Srl, Viale dell’Arte 25, Roma 00144, ItalyTel +39 06928924346Email gabriella.melzi@abbvie.comPurpose: The aim of this study was to assess the burden and the quality of life (QoL) perceived by caregivers assisting advanced Parkinson’s disease (PD) patients.Patients and Methods: Consecutive advanced PD patients treated with levodopa/carbidopa intestinal gel (LCIG) or continuous subcutaneous apomorphine infusion (CSAI) or care as usual (CU) and their care partners were recruited during routine visits according to a cross-sectional design. Caregiver’s distress was assessed by Zarit Burden Interview (ZBI) and a QoL survey to evaluate and understand the burden experienced by care partners during family and working activities.Results: A total of 126 patients (53 LCIG, 19 CSAI and 54 CU) and their care partners were enrolled. The ZBI score boxplot showed that LCIG and CU populations have a similar distribution (ZBI inter-quartile range [IQR] values respectively 18– 42 for LCIG and 19– 43 for CU group), while the CSAI group has a wider score range (IQR 16– 52). Caregivers assisting patients in treatment with LCIG have more time to perform family or household duties (p=0.0022), or to engage in leisure activities (p=0.0073) compared to CU, while no difference was found when compared to CSAI group. Approximately 50% of the care partners showed mood changes in the last 6 months and LCIG and CSAI had less impact on caregiver’s mood compared to CU. Patients treated with LCIG were more independent in taking a bath or shower without assistance and were more able to move and walk without assistance.Conclusion: Care partners of advanced PD patients treated with device-aided therapies have more time for their own life and a better perception of their QoL with a tendency to an improvement of mood compared with those of patients treated with CU.Keywords: advanced Parkinson’s disease, levodopa/carbidopa, intestinal infusion, caregiver burden, quality of life; QoL

Published
2020

3. Relationship between risk and protective factors and clinical features of Parkinson’s disease

Author

Costanzo, M., primary, Belvisi, D., additional, Pellicciari, R., additional, Fabbrini, A., additional, Ressa, G., additional, Pietracupa, S., additional, De Lucia, M., additional, Modugno, N., additional, Magrinelli, F., additional, Dallocchio, C., additional, Ercoli, T., additional, Nicoletti, A., additional, Zappia, M., additional, Solla, P., additional, Bologna, M., additional, Fabbrini, G., additional, Tinazzi, M., additional, Conte, A., additional, Berardelli, A., additional, and Defazio, G., additional

Published
2023
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4. Neuropsychiatric disturbances in atypical parkinsonian disorders

Author

Belvisi D, Berardelli I, Suppa A, Fabbrini A, Pasquini M, Pompili M, and Fabbrini G

Subjects
progressive supranuclear palsy, multiple system atrophy, corticobasal degeneration, apathy depression, disinhibition, anxiety, agitation, obsessive compulsive disorders, hallucination, delusions, tau, alpha-synuclein, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Daniele Belvisi,1 Isabella Berardelli,2 Antonio Suppa,1,3 Andrea Fabbrini,3 Massimo Pasquini,3 Maurizio Pompili,2 Giovanni Fabbrini1,3 1IRCCS Neuromed, Pozzilli, Italy; 2Department of Neurosciences, Mental Health and Sensory Organs, Suicide Prevention Center, Sant’Andrea Hospital, Sapienza University of Rome, Rome, Italy; 3Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy Abstract: Multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD) are the most common atypical parkinsonisms. These disorders are characterized by varying combinations of autonomic, cerebellar and pyramidal system, and cognitive dysfunctions. In this paper, we reviewed the evidence available on the presence and type of neuropsychiatric disturbances in MSA, PSP, and CBD. A MedLine, Excerpta Medica, PsycLit, PsycInfo, and Index Medicus search was performed to identify all articles published on this topic between 1965 and 2018. Neuropsychiatric disturbances including depression, anxiety, agitation, and behavioral abnormalities have been frequently described in these disorders, with depression as the most frequent disturbance. MSA patients show a higher frequency of depressive disorders when compared to healthy controls. An increased frequency of anxiety disorders has also been reported in some patients, and no studies have investigated apathy. PSP patients may have depression, apathy, disinhibition, and to a lesser extent, anxiety and agitation. In CBD, neuropsychiatric disorders are similar to those present in PSP. Hallucinations and delusions are rarely reported in these disorders. Neuropsychiatric symptoms in MSA, PSP, and CBD do not appear to be related to the severity of motor dysfunction and are one of the main factors that determine a low quality of life. The results suggest that neuropsychiatric disturbances should always be assessed in patients with atypical parkinsonisms. Keywords: atypical parkinsonisms, multiple system atrophy, progressive supranuclear palsy, corticobasal degeneration, neuropsychiatric disturbances, depression

Published
2018

5. Cognitive behavioral group therapy versus psychoeducational intervention in Parkinson’s disease

Author

Berardelli I, Bloise MC, Bologna M, Conte A, Pompili M, Lamis DA, Pasquini M, and Fabbrini G

Subjects
Parkinson’s Disease, Cognitive Behavioural Group Therapy, Psychoeducation, Motor Symptoms, Non-motor symptoms, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Isabella Berardelli,1 Maria Carmela Bloise,2 Matteo Bologna,2,3 Antonella Conte,2,3 Maurizio Pompili,1 Dorian A Lamis,4 Massimo Pasquini,2 Giovanni Fabbrini2,3 1Department of Neurosciences, Mental Health and Sensory Organs, Suicide Prevention Center, Sant’Andrea Hospital, Sapienza University of Rome, Rome, 2Department Human Neurosciences, Sapienza University of Rome, Rome, 3Neuromed Institute (IRCCS), Pozzilli (IS), Italy; 4Department of Psychiatry & Behavioral Sciences, Emory University School of Medicine, Atlanta, GA, USA Objective: The aim of the current study was to evaluate whether cognitive behavioral group therapy has a positive impact on psychiatric, and motor and non-motor symptoms in Parkinson’s disease (PD).Methods: We assigned 20 PD patients with a diagnosis of psychiatric disorder to either a 12-week cognitive behavioral therapy (CBT) group or a psychoeducational protocol. For the neurological examination, we administered the Unified Parkinson’s Disease Rating Scale and the non-motor symptoms scale. The severity of psychiatric symptoms was assessed by means of the Hamilton Depression Rating Scale, the Hamilton Anxiety Rating Scale, the Brief Psychiatric Rating Scale, and the Clinical Global Impressions.Results: Cognitive behavioral group therapy was effective in treating depression and anxiety symptoms as well as reducing the severity of non-motor symptoms in PD patients; whereas, no changes were observed in PD patients treated with the psychoeducational protocol.Conclusion: CBT offered in a group format should be considered in addition to standard drug therapy in PD patients. Keywords: Parkinson’s disease, cognitive behavioral group therapy, psychoeducation, motor symptoms, non-motor symptoms

Published
2018

7. 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

8. The Italian Dystonia Registry: rationale, design and preliminary findings

Author

Defazio, Giovanni, Esposito, M., Abbruzzese, G., Scaglione, C. L., Fabbrini, G., Ferrazzano, G., Peluso, S., Pellicciari, R., Gigante, A. F., Cossu, G., Arca, R., Avanzino, L., Bono, F., Mazza, M. R., Bertolasi, L., Bacchin, R., Eleopra, R., Lettieri, C., Morgante, F., Altavista, M. C., Polidori, L., Liguori, R., Misceo, S., Squintani, G., Tinazzi, M., Ceravolo, R., Unti, E., Magistrelli, L., Coletti Moja, M., Modugno, N., Petracca, M., Tambasco, N., Cotelli, M. S., Aguggia, M., Pisani, A., Romano, M., Zibetti, M., Bentivoglio, A. R., Albanese, A., Girlanda, P., and Berardelli, A.

Published
2017
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11. Correlation between Quality of Life and severity of Parkinson's Disease by assessing an optimal cut-off point on the Parkinson's Disease questionnaire (PDQ-39) as related to the Hoehn & Yahr (H&Y) scale

Author

Galeoto, G, Berardi, A, Colalelli, F, Pelosin, E, Mezzarobba, S, Avanzino, L, Valente, D, Tofani, M, and Fabbrini, G

Subjects
Adult, severity, Parkinson Disease, Parkinson, age, gender, quality of life, Cross-Sectional Studies, Female, Humans, Severity of Illness Index, Surveys and Questionnaires, Quality of Life
Abstract

Strong evidence shows that symptoms in individuals with Parkinson's Disease (PD) restrict both their independence and social participation, leading to a low Quality of Life (QoL). Conversely, a reduced QoL has a negative impact on symptoms. The aim is to evaluate the correlation between QoL and severity of PD by assessing the presence of an optimal cut-off point on the Parkinson's disease questionnaire (PDQ-39) as related to the HoehnYahr (HY) scale in a cohort of Italian adults with PD.A multicenter, cross-sectional study was performed. This study was conducted on a cohort of consecutive individuals. All participants were evaluated with the PDQ-39, and the severity of PD was recorded according to the HY scale by a neurologist. Receiver op-erating characteristic (ROC) curves and coordinates, visually inspected, were used to find cut-off points with optimal sensitivity and specificity. These were in turn used to determine the optimal PDQ-39 cut-off score for identifying disease severity according to HY stages.513 individuals were included in the study. The ROC curve analysis showed that QoL worsened with an increase in disease severity and age. Moreover, QoL was worse in females.The results of this study allowed for the correlation of QoL and disease severity in a cohort of individuals with PD. With this cut-off point, it is now possible to make a determination of QoL of an individual with PD at a certain stage of the disease, in a specific age range, and of a particular gender.

Published
2022

14. A European Observational Study to Evaluate the Safety and the Effectiveness of Safinamide in Routine Clinical Practice: The SYNAPSES Trial

Author

Abbruzzese, G., Kulisevsky, J., Bergmans, B., Gomez-Esteban, J. C., Kagi, G., Raw, J., Stefani, A., Warnecke, T., Jost, W. H., Bourgeois, P., Cras, P., de Klippel, N., Dethy, S., Franco, G., Garraux, G., Geens, K., Jacquerye, P., Jeanjean, A., Santens, P., Supiot, F., van der Linden, C., Blersch, W. K., Delf, M., Hellwig, B., Herbst, H. P., Kupsch, A., Lang, M., Muhlack, S., Nastos, I., Oehlwein, C., Schlegel, E., Schwarz, J., Woitalla, D., Aguggia, M., Avarello, T., Barone, P., Baruffaldi, R., Belgrado, E., Bentivoglio, A. R., Bosco, D., Calabresi, P., Callegarini, C., Cannas, A., Centonze, D., Ceravolo, R., Colosimo, C., Comi, C., Contardi, S., Cortelli, P., Cossu, G., D'Amelio, M., de Pandis, M. F., Denaro, A., Di Lazzaro, V., Fabbrini, G., Gasparoli, E., Guidi, M., Iliceto, G., Lopiano, L., Manganotti, P., Marconi, R., Marini, C., Marsala, S. Z., Mauri, M., Moleri, M., Monge, A., Morgante, F., Negrotti, A., Nordera, G., Onofrj, M., Pacchetti, C., Padovani, A., Pontieri, F. E., Priori, A., Quatrale, R., Sensi, M., Tamma, F., Tessitore, A., Tinazzi, M., Vitale, C., Volonte, M. A., Zappia, M., Zecchinelli, A. L., Arbelo Gonzalez, J. M., Bayes, A., Blazquez, M., Calopa Garriga, M., Callen, A., Campos Arillo, V., Cubo, E., de Fabregues, O., Escalante Arroyo, S., Espinosa Rosso, R., Esquivel Lopez, A., Freire, E., Garcia Cobos, E., Garcia Moreno, J. M., Gonzalez-Ardura, J., Grandas Perez, F., Kurtis, M., Juni, J., Legarda, I., Leiva, C., Lopez Aristegui, N., Lopez Manzanares, L., Lozano, J. J., Luquin, M. R., Martinez Castrillo, J. C., Marti Domenech, M. J., Martinez, I., Mata, M., Mir Rivera, P., Pascual Sedano, B., Rodriguez Oroz, M. C., Rodriguez Uranga, J. J., Sanchez, S., Santos Garcia, D., Solano, B., Vaamonde Gamo, J., Accolla, E., Bohlhalter, S., Kalin, A., Michelis, J., Carrol, C., Henderson, E., Raha, S., Silva, N., Silverdale, M., Universidad de Sevilla. Departamento de Medicina, Abbruzzese G., Kulisevsky J., Bergmans B., Gomez-Esteban J.C., Kagi G., Raw J., Stefani A., Warnecke T., Jost W.H., Bourgeois P., Cras P., de Klippel N., Dethy S., Franco G., Garraux G., Geens K., Jacquerye P., Jeanjean A., Santens P., Supiot F., van der Linden C., Blersch W.K., Delf M., Hellwig B., Herbst H.P., Kupsch A., Lang M., Muhlack S., Nastos I., Oehlwein C., Schlegel E., Schwarz J., Woitalla D., Aguggia M., Avarello T., Barone P., Baruffaldi R., Belgrado E., Bentivoglio A.R., Bosco D., Calabresi P., Callegarini C., Cannas A., Centonze D., Ceravolo R., Colosimo C., Comi C., Contardi S., Cortelli P., Cossu G., D'Amelio M., de Pandis M.F., Denaro A., Di Lazzaro V., Fabbrini G., Gasparoli E., Guidi M., Iliceto G., Lopiano L., Manganotti P., Marconi R., Marini C., Marsala S.Z., Mauri M., Moleri M., Monge A., Morgante F., Negrotti A., Nordera G., Onofrj M., Pacchetti C., Padovani A., Pontieri F.E., Priori A., Quatrale R., Sensi M., Tamma F., Tessitore A., Tinazzi M., Vitale C., Volonte M.A., Zappia M., Zecchinelli A.L., Arbelo Gonzalez J.M., Bayes A., Blazquez M., Calopa Garriga M., Callen A., Campos Arillo V., Cubo E., de Fabregues O., Escalante Arroyo S., Espinosa Rosso R., Esquivel Lopez A., Freire E., Garcia Cobos E., Garcia Moreno J.M., Gonzalez-Ardura J., Grandas Perez F., Kurtis M., Juni J., Legarda I., Leiva C., Lopez Aristegui N., Lopez Manzanares L., Lozano J.J., Luquin M.R., Martinez Castrillo J.C., Marti Domenech M.J., Martinez I., Mata M., Mir Rivera P., Pascual Sedano B., Rodriguez Oroz M.C., Rodriguez Uranga J.J., Sanchez S., Santos Garcia D., Solano B., Vaamonde Gamo J., Accolla E., Bohlhalter S., Kalin A., Michelis J., Carrol C., Henderson E., Raha S., Silva N., and Silverdale M.

Subjects
Research Report, Male, 0301 basic medicine, Benzylamines, Parkinson's disease, Outcome Assessment, Comorbidity, Disease, Real-life evaluation, chemistry.chemical_compound, 0302 clinical medicine, Outcome Assessment, Health Care, 80 and over, MAO-B inhibitor, Aged, 80 and over, Safinamide, education.field_of_study, Alanine, Mental Disorders, Parkinson Disease, Middle Aged, Aged, Drug-Related Side Effects and Adverse Reactions, Europe, Female, Follow-Up Studies, Humans, Monoamine Oxidase Inhibitors, Retrospective Studies, Settore MED/26 - NEUROLOGIA, Erratum, Cohort study, medicine.medical_specialty, Population, MEDLINE, 03 medical and health sciences, Cellular and Molecular Neuroscience, Internal medicine, medicine, Adverse effect, education, business.industry, medicine.disease, Health Care, 030104 developmental biology, chemistry, Parkinson’s disease, Observational study, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

Background: Safinamide modulates both dopaminergic and glutamatergic systems with positive effects on motor and non-motor symptoms of Parkinson's disease (PD). The drug utilization study SYNAPSES was designed to investigate the use of safinamide in routine clinical practice, as recommended by the European Medicines Agency. Objective: To describe the occurrence of adverse events in PD patients treated with safinamide in real-life conditions. Methods: The SYNAPSES trial is an observational, European, multicenter, retrospective-prospective cohort study. Patients were followed up to 12 months with analyses performed in the overall population and in patients aged >75 years, with relevant comorbidities and with psychiatric conditions. Results: Of the 1610 patients included, 82.4% were evaluable after 12 months with 25.1% of patients >75 years, 70.8% with relevant comorbidities and 42.4% with psychiatric conditions. During observation 45.8% patients experienced adverse events, 27.7% patients had adverse drug reactions and 9.2% patients had serious adverse events. The adverse events were those already described in the patients' information leaflet. The majority were mild or moderate and completely resolved and no differences were detected between the subgroup of patients. Clinically significant improvements were seen in the UPDRS motor score and in the UPDRS total score in >= 40% of patients, according to the criteria developed by Shulman et al. Conclusion: The SYNAPSES study confirms the good safety profile of safinamide even in special groups of patients. Motor complications and motor scores improved with clinically significant results in the UPDRS scale maintained in the long-term.

Published
2022

17. Idiopathic Non-Task-Specific Upper Limb Dystonia, a Neglected Form of Dystonia

Author

Defazio, G., Ercoli, T., Erro, R., Pellicciari, R., Mascia, M. M., Fabbrini, G., Albanese, A., Lalli, S., Eleopra, R., Barone, P., Marchese, R., Ceravolo, R., Scaglione, C., Liguori, R., Esposito, M., Bentivoglio, A. R., Bertolasi, L., Altavista, M. C., Bono, F., Pisani, A., Girlanda, P., Berardelli, A., Italian Dystonia Registry, Ferrazzano, G., Defazio G., Ercoli T., Erro R., Pellicciari R., Mascia M.M., Fabbrini G., Albanese A., Lalli S., Eleopra R., Barone P., Marchese R., Ceravolo R., Scaglione C., Liguori R., Esposito M., Bentivoglio A.R., Bertolasi L., Altavista M.C., Bono F., Pisani A., Girlanda P., and Berardelli A.

Subjects
0301 basic medicine, Adult, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, upper limb, writer's cramp, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Tremor, medicine, otorhinolaryngologic diseases, Humans, Family history, Sensory trick, Retrospective Studies, Dystonia, business.industry, Writer's cramp, Retrospective cohort study, dystonia, non-task-specificity, task-specificity, Focal dystonia, medicine.disease, Action tremor, nervous system diseases, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, medicine.anatomical_structure, Neurology, Italy, Dystonic Disorders, Upper limb, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

Objective The objective of this study was to describe the clinical and demographic features of idiopathic non-task-specific upper limb dystonia compared with the task-specific form. Methods In this retrospective study, adult patients with idiopathic upper limb dystonia, either focal or as part of a segmental/multifocal dystonia, from the Italian Dystonia Registry were enrolled. In patients with focal upper limb dystonia, dystonia spread was estimated by survival analysis. Results Of the 1522 patients with idiopathic adult-onset dystonia included in the Italian Dystonia Registry, we identified 182 patients with upper limb dystonia. Non-task-specific dystonia was present in 61.5% of enrolled cases. Women predominated among non-task-specific patients, whereas men predominated in the task-specific group. Peak age of upper limb dystonia onset was in the sixth decade in the non-task-specific group and in the fourth decade in the task-specific group. In both groups, upper limb dystonia started as focal dystonia or as part of a segmental dystonia. Segmental onset was more frequent among non-task-specific patients, whereas focal onset predominated among task-specific patients. Dystonic action tremor was more frequent among non-task-specific patients. No significant differences between groups emerged in terms of sensory trick frequency, rest tremor, or family history of dystonia. In patients with focal upper limb dystonia, dystonia spread was greater in the non-task-specific group. Conclusion Novel information on upper limb dystonia patients suggests that non-task-specific and task-specific upper limb dystonia have different demographic and clinical features. However, it remains to be determined whether these differences also reflect pathophysiological differences. © 2020 International Parkinson and Movement Disorder Society.

Published
2020

18. GBA-Related Parkinson’s Disease:Dissection of Genotype–Phenotype Correlates in a LargeItalian Cohort

Author

Petrucci, S., Ginevrino, M., Trezzi, I., Monfrini, E., Ricciardi, L., Albanese, A., Avenali, M., Barone, P., Bentivoglio, A. R., Bonifati, V., Bove, F., Bonanni, L., Brusa, L., Cereda, C., Cossu, G., Criscuolo, C., Dati, G., De Rosa, A., Eleopra, R., Fabbrini, G., Fadda, L., Garbellini, M., Minafra, B., Onofrj, M., Pacchetti, C., Palmieri, I., Pellecchia, M. T., Petracca, M., Picillo, M., Pisani, A., Vallelunga, A., Zangaglia, R., Di Fonzo, A., Morgante, F., Valente, E. M., Altavista, M. C., Amboni, M., Ardolino, G., Berardelli, A., Cogiamanian, F., Colosimo, C., Costanti, D., De Michele, G., Bonaventura, C. D., Di Lazzaro, G., Di Lazzaro, V., Emanuele Elia, A., Erro, R., Ferrazzano, G., Guerra, A., Ialongo, T., Malaguti, M. C., Melis, M., Moro, E., Oppo, V., Ottaviani, D., Peluso, S., Quadri, M. L., Romito, L. M., Sarchioto, M., Schirinzi, T., Sorbera, C., Stefani, A., Thomas, A., Valente, M. L., Volpe, G, ITA-GENE-PD Study, Group., Petrucci, S, Ginevrino, M, Trezzi, I, Monfrini, E, Ricciardi, L, Albanese, A, Avenali, M, Barone, P, Bentivoglio, Ar, Bonifati, V, Bove, F, Bonanni, L, Brusa, L, Cereda, C, Cossu, G, Criscuolo, C, Dati, G, De Rosa, A, Eleopra, R, Fabbrini, G, Fadda, L, Garbellini, M, Minafra, B, Onofrj, M, Pacchetti, C, Palmieri, I, Pellecchia, Mt, Petracca, M, Picillo, M, Pisani, A, Vallelunga, A, Zangaglia, R, Di Fonzo, A, Morgante, F, Valente, Em, Clinical Genetics, Erasmus MC other, and Radiology & Nuclear Medicine

Subjects
0301 basic medicine, Oncology, medicine.medical_specialty, Parkinson's disease, Genotype, genotype–phenotype correlates, Disease, Settore MED/05, Genotype phenotype, dementia, GBA, impulsive–compulsive behavior, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Internal medicine, medicine, Dementia, Humans, Sanger sequencing, business.industry, Dissection, Parkinson Disease, medicine.disease, Phenotype, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Glucosylceramidase, Italy, Mutation, Neurology, Cohort, symbols, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

BACKGROUND Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD). The impact of different variants on the PD clinical spectrum is still unclear. OBJECTIVES We determined the frequency of GBA-related PD in Italy and correlated GBA variants with motor and nonmotor features and their occurrence over time. METHODS Sanger sequencing of the whole GBA gene was performed. Variants were classified as mild, severe, complex, and risk. β-glucocerebrosidase activity was measured. The Kaplan-Meier method and Cox proportional hazard regression models were performed. RESULTS Among 874 patients with PD, 36 variants were detected in 14.3%, including 20.4% early onset. Patients with GBA-PD had earlier and more frequent occurrence of several nonmotor symptoms. Patients with severe and complex GBA-PD had the highest burden of symptoms and a higher risk of hallucinations and cognitive impairment. Complex GBA-PD had the lowest β-glucocerebrosidase activity. CONCLUSIONS GBA-PD is highly prevalent in Italy. Different types of mutations underlie distinct phenotypic profiles. © 2020 International Parkinson and Movement Disorder Society.

Published
2020

19. INTEREST IN CD2, a global patient-centred study of long-term cervical dystonia treatment with botulinum toxin

Author

Misra, Vijay P., Colosimo, Carlo, Charles, David, Chung, Tae Mo, Maisonobe, Pascal, Om, Savary, Abdulnayef, A., Adatepe, N. U., Araujo Leite, M. A., Badarny, S., Bajenaru, O., Bares, M., Bejjani, P., Bergmans, B., Bhidayasiri, R., Bozic, H., Cardoso Costa, F. E., Carlstrom, C., Castelnovo, G., Chang, M. H., Chang, Y. Y., Coletti-Moja, M., Delvaux, V., Dioszhegy, P., Dogu, O., Duzynski, W., Ehler, E., Espinosa Sierra, L., Fabbrini, G., Ferreira, J., Ferreira Valadas, A., Foresti, C., Girlanda, P., Goh, K. J., Graca Velon, A., Grill, S., Gurevitch, T., Hadidi, M., Hamimed, M. A., Hamri, A., Harrower, T., Hassin, S., Hedera, P., Hernandez, J. F. J. G., Hernandez Franco, J., Ho, B., Ho, S. L., Hughes, A., Ilic, T., Inshasi, J. S., Ip, C. W., Jamieson, S., Jamora, R. D. G., Jech, R., Jeon, B. S., Kaminska, A., Karpova, M., Khasanova, D., Kim, J. M., Kim, J. W., Kok, C. Y., Korenko, A., Korv, J., Koussa, S., Kovacs, T., Kreisler, A., Krystkowiak, P., Kumthornthip, W., Lin, C. H., Lundin, F., Lus, G., Magalhaes, M., Masmoudi, A. N., Mercelis, R., Misbahuddin, A., Moebius, C., Mohammadi, B., Nazem, B., Ng, K., Nurlu, G., Nyberg, J., Nyholm, D., Ochudlo, S., Otruba, P., Pfister, R., Pirtosek, Z., Pokhabov, D., Quinones Aguilar, S., Quinones Canales, G., Raghev, S., Rickmann, H., Romano, M., Rosales, R. L., Rubanovits, I., Santilli, V., Schoels, L., Simonetta-Moreau, M., Simu, M. A., Sohn, Y. H., Soulayrol, S., Supe, I., Svetel, M., Sycha, T., Tan, E. K., Timerbaeva, S., Tokcaer, A. B., Trosch, R., Tugnoli, V., Tumas, V., van der Linden, C., Vetra, A., Vial, C., Vidry, E., Williams, D., Wimalaratna, S., Yiannikas, C., Misra, Vijay P., Colosimo, Carlo, Charles, David, Chung, Tae Mo, Maisonobe, Pascal, Om, Savary, Abdulnayef, A., Adatepe, N. U., Araujo Leite, M. A., Badarny, S., Bajenaru, O., Bares, M., Bejjani, P., Bergmans, B., Bhidayasiri, R., Bozic, H., Cardoso Costa, F. E., Carlstrom, C., Castelnovo, G., Chang, M. H., Chang, Y. Y., Coletti-Moja, M., Delvaux, V., Dioszhegy, P., Dogu, O., Duzynski, W., Ehler, E., Espinosa Sierra, L., Fabbrini, G., Ferreira, J., Ferreira Valadas, A., Foresti, C., Girlanda, P., Goh, K. J., Graca Velon, A., Grill, S., Gurevitch, T., Hadidi, M., Hamimed, M. A., Hamri, A., Harrower, T., Hassin, S., Hedera, P., Hernandez, J. F. J. G., Hernandez Franco, J., Ho, B., Ho, S. L., Hughes, A., Ilic, T., Inshasi, J. S., Ip, C. W., Jamieson, S., Jamora, R. D. G., Jech, R., Jeon, B. S., Kaminska, A., Karpova, M., Khasanova, D., Kim, J. M., Kim, J. W., Kok, C. Y., Korenko, A., Korv, J., Koussa, S., Kovacs, T., Kreisler, A., Krystkowiak, P., Kumthornthip, W., Lin, C. H., Lundin, F., Lus, G., Magalhaes, M., Masmoudi, A. N., Mercelis, R., Misbahuddin, A., Moebius, C., Mohammadi, B., Nazem, B., Ng, K., Nurlu, G., Nyberg, J., Nyholm, D., Ochudlo, S., Otruba, P., Pfister, R., Pirtosek, Z., Pokhabov, D., Quinones Aguilar, S., Quinones Canales, G., Raghev, S., Rickmann, H., Romano, M., Rosales, R. L., Rubanovits, I., Santilli, V., Schoels, L., Simonetta-Moreau, M., Simu, M. A., Sohn, Y. H., Soulayrol, S., Supe, I., Svetel, M., Sycha, T., Tan, E. K., Timerbaeva, S., Tokcaer, A. B., Trosch, R., Tugnoli, V., Tumas, V., van der Linden, C., Vetra, A., Vial, C., Vidry, E., Williams, D., Wimalaratna, S., and Yiannikas, C.

Subjects
Male, Neurology, SATISFACTION, International Cooperation, Cohort Studies, 0302 clinical medicine, QUALITY-OF-LIFE, Botulinum toxin, Observational study, Tremor, Epidemiology, 030212 general & internal medicine, Cervical dystonia, Botulinum Toxins, Type A, Torticollis, Neuroradiology, BLEPHAROSPASM, education.field_of_study, Original Communication, INTEREST IN CD2 study group, Middle Aged, Treatment Outcome, Neuromuscular Agents, Female, Life Sciences & Biomedicine, medicine.drug, Adult, medicine.medical_specialty, Population, Clinical Neurology, DIAGNOSIS, 03 medical and health sciences, Patient satisfaction, Neurology (clinical), Internal medicine, medicine, Humans, education, Aged, Science & Technology, Neurology & Neurosurgery, Electromyography, GUIDANCE, business.industry, 1103 Clinical Sciences, medicine.disease, NEUROTOXIN, REGISTRY, UPDATE, Neurosciences & Neurology, 1109 Neurosciences, business, 030217 neurology & neurosurgery
Abstract

Background Longitudinal cohort studies provide important information about the clinical effectiveness of an intervention in the routine clinical setting, and are an opportunity to understand how a population presents for treatment and is managed. Methods INTEREST IN CD2 (NCT01753349) is a prospective, international, 3-year, longitudinal, observational study following the course of adult idiopathic cervical dystonia (CD) treated with botulinum neurotoxin type A (BoNT-A). The primary objective is to document long-term patient satisfaction with BoNT-A treatment. Here we report baseline data. Results This analysis includes 1036 subjects (67.4% of subjects were female; mean age was 54.7 years old; mean TWSTRS Total score was 31.7). BoNT-A injections were usually given in line with BoNT-A prescribing information. The most commonly injected muscles were splenius capitis (87.3%), sternocleidomastoid (82.6%), trapezius (64.3%), levator scapulae (40.9%) and semispinalis capitis (26.9%); 35.5% of subjects were injected using a guidance technique. Most subjects (87.8%) had been previously treated with BoNT-A (median interval between last pre-study injection and study baseline was 4 months); of these 84.8% reported satisfaction with BoNT-A treatment at peak effect during their previous treatment cycle and 51.5% remained satisfied at the end of the treatment. Analyses by geographical region revealed heterogeneity in the clinical characteristics and BoNT-A injection practice of CD subjects presenting for routine treatment. Conclusions These baseline analyses provide sizeable data regarding the epidemiology and clinical presentation of CD, and demonstrate an international heterogeneity of clinical practice. Future longitudinal analyses of the full 3-year study will explore how these factors impact treatment satisfaction. Electronic supplementary material The online version of this article (10.1007/s00415-017-8698-2) contains supplementary material, which is available to authorized users.

Published
2017

20. Correction to: The Italian Dystonia Registry: rationale, design and preliminary findings

Author

Defazio, Giovanni, Esposito, M., Abbruzzese, G., Scaglione, C. L., Fabbrini, G., Ferrazzano, G., Peluso, S., Pellicciari, R., Gigante, A. F., Cossu, G., Arca, R., Avanzino, L., Bono, F., Mazza, M. R., Bertolasi, L., Bacchin, R., Eleopra, R., Lettieri, C., Morgante, F., Altavista, M. C., Polidori, L., Liguori, R., Misceo, S., Squintani, G., Tinazzi, M., Ceravolo, R., Unti, E., Magistrelli, L., Coletti Moja, M., Modugno, N., Petracca, M., Tambasco, N., Cotelli, M. S., Aguggia, M., Pisani, A., Romano, M., Zibetti, M., Bentivoglio, A. R., Albanese, A., Girlanda, P., and Berardelli, A.

Published
2018
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23. Pisa syndrome in Parkinson’s disease: demographic and clinical correlations in an Italian multicenter study: EP1137

Author

Juergenson, I. B., Geroin, C., Bombieri, F., Smania, N., Ottaviani, S., Bovi, T., Bisoffi, G., Mirandola, R., Canesi, M., Pezzoli, G., Ceravolo, R., Frosini, D., Rossi, S., Ulivelli, M., Thomas, A., Di Giacomo, R., Fabbrini, G., Sarchioto, M., Bentivoglio, A., Bove, F., Tamma, F., Lucchese, V., Cossu, G., Di Stefano, F., Pisani, A., Amadeo, G., Modugno, N., Zappia, M., Nicoletti, A., Volonté, M. A., Spagnolo, F., Sciaretta, M., Altavilla, T., Abbruzzese, G., Cordano, C., Pacchetti, C., Pozzi, N. G., Marconi, R., Gallerini, S., Mignarri, A., Allocca, R., Defazio, G., Morgante, F., Riccardi, L., Cannas, A., Solla, P., Vitale, C., Fasano, A., Barone, P., and Tinazzi, M.

Published
2014

24. Somatosensory temporal discrimination in patients with primary focal dystonia

Author

Scontrini, A., Conte, A., Defazio, G., Fiorio, M., Fabbrini, G., Suppa, A., Tinazzi, M., and Berardelli, A.

Subjects
Dystonia -- Diagnosis, Dystonia -- Research, Somatosensory system -- Physiological aspects, Somatosensory system -- Research, Health, Psychology and mental health
Published
2009

25. Camptocormia in Parkinson disease: an epidemiological and clinical study

Author

Tiple, D., Fabbrini, G., Colosimo, C., Ottaviani, D., Camerota, F., Defazio, G., and Berardelli, A.

Subjects
Parkinson's disease -- Research, Parkinson's disease -- Physiological aspects, Parkinson's disease -- Development and progression, Epidemiology -- Research, Spine -- Abnormalities, Spine -- Research, Spine -- Physiological aspects, Health, Psychology and mental health
Published
2009

27. Correlation between Quality of Life and severity of Parkinson's Disease by assessing an optimal cut-off point on the Parkinson's Disease questionnaire (PDQ-39) as related to the Hoehn & Yahr (H&Y) scale.

Author

Galeoto, G., Berardi, A., Colalelli, F., Pelosin, E., Mezzarobba, S., Avanzino, L., Valente, D., Tofani, M., and Fabbrini, G.

Subjects
PARKINSON'S disease, QUALITY of life, SOCIAL participation, RECEIVER operating characteristic curves, CROSS-sectional method
Abstract

Purpose. Strong evidence shows that symptoms in individuals with Parkinson's Disease (PD) restrict both their independence and social participation, leading to a low Quality of Life (QoL). Conversely, a reduced QoL has a negative impact on symptoms. The aim is to evaluate the correlation between QoL and severity of PD by assessing the presence of an optimal cut-off point on the Parkinson's disease questionnaire (PDQ-39) as related to the Hoehn &Yahr (H&Y) scale in a cohort of Italian adults with PD. Methods. A multicenter, cross-sectional study was performed. This study was conducted on a cohort of consecutive individuals. All participants were evaluated with the PDQ-39, and the severity of PD was recorded according to the H&Y scale by a neurologist. Receiver operating characteristic (ROC) curves and coordinates, visually inspected, were used to find cut-off points with optimal sensitivity and specificity. These were in turn used to determine the optimal PDQ-39 cut-off score for identifying disease severity according to H&Y stages. Results. 513 individuals were included in the study. The ROC curve analysis showed that QoL worsened with an increase in disease severity and age. Moreover, QoL was worse in females. Conclusions. The results of this study allowed for the correlation of QoL and disease severity in a cohort of individuals with PD. With this cut-off point, it is now possible to make a determination of QoL of an individual with PD at a certain stage of the disease, in a specific age range, and of a particular gender. [ABSTRACT FROM AUTHOR]

Published
2022
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28. Correction to: The TANDEM investigation: efficacy and tolerability of levodopa-carbidopa intestinal gel in (LCIG) advanced Parkinson’s disease patients (Journal of Neural Transmission, (2020), 127, 6, (881-891), 10.1007/s00702-020-02175-1)

Author

Antonini, A., Abbruzzese, G., Berardelli, A., Modugno, N., Stroppa, I., Tamma, F., Sensi, M., Mancini, F., Cossu, G., Stefani, A., Tambasco, N., Tessitore, A., Fabbrini, G., Pontieri, F. E., Solla, P., Bentivoglio, Anna Rita, Comi, C., Minafra, B., Riboldazzi, G., Melchionda, D., Martino, T., and Lopiano, L.

Subjects
Settore MED/26 - NEUROLOGIA, Parkinson's disease, Tandem
Published
2020

29. GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort

Author

Petrucci, S., Ginevrino, M., Trezzi, I., Monfrini, E., Ricciardi, L., Albanese, A., Avenali, M., Barone, P., Bentivoglio, A. R., Bonifati, V., Bove, F., Bonanni, L., Brusa, L., Cereda, C., Cossu, G., Criscuolo, C., Dati, G., De Rosa, A., Eleopra, R., Fabbrini, G., Fadda, L., Garbellini, M., Minafra, B., Onofrj, M., Pacchetti, C., Palmieri, I., Pellecchia, M. T., Petracca, M., Picillo, M., Pisani, A., Vallelunga, A., Zangaglia, R., Di Fonzo, A., Morgante, F., and Valente, E. M.

Subjects
dementia, GBA, genotype–phenotype correlates, impulsive–compulsive behavior, Parkinson's disease
Published
2020

33. Early (Uncomplicated) Parkinson's Disease

Author

Oertel, W. H., primary, Berardelli, A., additional, Bloem, B. R., additional, Bonuccelli, U., additional, Burn, D., additional, Deuschl, G., additional, Dietrichs, E., additional, Fabbrini, G., additional, Ferreira, J. J., additional, Friedman, A., additional, Kanovsky, P., additional, Kostic, V., additional, Nieuwboer, A., additional, Odin, P., additional, Poewe, W., additional, Rascol, O., additional, Sampaio, C., additional, Schüpbach, M., additional, Tolosa, E., additional, and Trenkwalder, C., additional

Published
2010
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34. Late (Complicated) Parkinson's Disease

Author

Oertel, W. H., primary, Berardelli, A., additional, Bloem, B. R., additional, Bonuccelli, U., additional, Burn, D., additional, Deuschl, G., additional, Dietrichs, E., additional, Fabbrini, G., additional, Ferreira, J. J., additional, Friedman, A., additional, Kanovsky, P., additional, Kostic, V., additional, Nieuwboer, A., additional, Odin, P., additional, Poewe, W., additional, Rascol, O., additional, Sampaio, C., additional, Schüpbach, M., additional, Tolosa, E., additional, and Trenkwalder, C., additional

Published
2010
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49. How satisfied are cervical dystonia patients after 3 years of botulinum toxin type A treatment? Results from a prospective, long-term observational study

Author

Colosimo, C, Charles, D, Misra, VP, Maisonobe, P, Om, S, Abdulnayef, A, Adatepe, NU, Leite, AMA, Badarny, S, Bajenaru, O, Bares, M, Bejjani, P, Bergmans, B, Bhidayasiri, R, Bozic, H, Costa, CFE, Carlstrom, C, Castelnovo, G, Chang, MH, Chang, YY, Chung, TM, Coletti-Moja, M, Delvaux, V, Dioszhegy, P, Dogu, O, Duzynski, W, Ehler, E, Sierra, EL, Fabbrini, G, Ferreira, J, Valadas, FA, Foresti, C, Girlanda, P, Goh, KJ, Velon, GA, Grill, S, Gurevitch, T, Hadidi, M, Hamimed, MA, Hamri, A, Harrower, T, Hassin, S, Hedera, P, Hernandez, JFJG, Franco, HJ, Ho, B, Ho, SL, Hughes, A, Ilic, T, Inshasi, JS, Ip, CW, Jamieson, S, Jamora, RDG, Jech, R, Jeon, BS, Kaminska, A, Karpova, M, Khasanova, D, Kim, JM, Kim, JW, Kok, CY, Korenko, A, Korv, J, Koussa, S, Kovacs, T, Kreisler, A, Krystkowiak, P, Kumthornthip, W, Lin, CH, Lundin, F, Lus, G, Magalhaes, M, Masmoudi, AN, Mercelis, R, Misbahuddin, A, Moebius, C, Mohammadi, B, Nazem, B, Ng, K, Nurlu, G, Nyberg, J, Nyholm, D, Ochudlo, S, Otruba, P, Pfister, R, Pirtosek, Z, Pokhabov, D, Aguilar, QS, Canales, QG, Raghev, S, Rickmann, H, Romano, M, Rosales, RL, Rubanovits, I, Santilli, V, Schoels, L, Simonetta-Moreau, M, Ma, S, Sohn, YH, Soulayrol, S, Supe, I, Svetel, M, Sycha, T, Tan, EK, Timerbaeva, S, Tokcaer, AB, Trosch, R, Tugnoli, V, Tumas, V, Van der Linden, C, Vetra, A, Vial, C, Vidry, E, Williams, D, Wimalaratna, S, and Yiannikas, C

Subjects
0301 basic medicine, Male, Pediatrics, Neurology, SATISFACTION, Botulinum toxin, Cervical dystonia, Observational study, Satisfaction, Treatment, 0302 clinical medicine, QUALITY-OF-LIFE, Outcome Assessment, Health Care, Prospective Studies, Botulinum Toxins, Type A, Torticollis, Neuroradiology, BLEPHAROSPASM, INTEREST IN CD2 study group, Middle Aged, Neuromuscular Agents, Patient Satisfaction, SAFETY, Female, Life Sciences & Biomedicine, medicine.drug, Adult, medicine.medical_specialty, Adolescent, MEDLINE, Clinical Neurology, Treatment results, DIAGNOSIS, 03 medical and health sciences, Young Adult, medicine, Humans, Aged, Science & Technology, Neurology & Neurosurgery, business.industry, Correction, 1103 Clinical Sciences, medicine.disease, EFFICACY, 030104 developmental biology, Neurology (clinical), Neurosciences & Neurology, business, FOLLOW-UP, 1109 Neurosciences, 030217 neurology & neurosurgery, Botulinum toxin type
Abstract

Background Patients with cervical dystonia (CD) typically require regular injections of botulinum toxin to maintain symptomatic control. We aimed to document long-term patient satisfaction with CD symptom control in a large cohort of patients treated in routine practice. Methods This was a prospective, international, observational study (NCT01753349) following the course of adult CD treated with botulinum neurotoxin type A (BoNT-A) over 3 years. A comprehensive clinical assessment status was performed at each injection visit and subjects reported satisfaction in two ways: satisfaction with symptom control at peak effect and at the end of treatment cycle. Results Subject satisfaction remained relatively stable from the first to the last injection visit. At 3 years, 89.9% of subjects reported satisfaction with symptom control at peak effect and 55.6% reported satisfaction with symptom control at end of treatment cycle. By contrast, objective ratings of CD severity showed an overall reduction over 3 years. Mean ± SD Toronto Western Spasmodic Rating Scale (TWSTRS) Total scores (clinician assessed at end of treatment cycle) decreased from 31.59 ± 13.04 at baseline to 24.49 ± 12.43 at 3 years (mean ± SD reduction from baseline of − 6.97 ± 11.56 points). Tsui scale scores also showed gradual improvement; the percent of subjects with a tremor component score of 4 reduced from 12.4% at baseline to 8.1% at 3 years. Conclusions Despite objective clinical improvements over 3 years, subject satisfaction with symptom control remained relatively constant, indicating that factors other than symptom control also play a role in patient satisfaction.

Published
2019

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