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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. 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

4. 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

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. 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

7. 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

8. 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
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9. 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
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10. 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, Anna Rita, Bosco, D., Calabresi, Paolo, 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., Bentivoglio A. R. (ORCID:0000-0002-9663-095X), Calabresi P. (ORCID:0000-0003-0326-5509), 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, Anna Rita, Bosco, D., Calabresi, Paolo, 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., Bentivoglio A. R. (ORCID:0000-0002-9663-095X), and Calabresi P. (ORCID:0000-0003-0326-5509)

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
2021

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

Author

Ercoli, T., Erro, R., Fabbrini, G., Pellicciari, R., Girlanda, P., Terranova, C., Avanzino, L., Di Biasio, F., Barone, P., Esposito, M., De Joanna, G., Eleopra, R., Bono, F., Manzo, L., Bentivoglio, Anna Rita, Petracca, Martina, Mascia, M. M., Albanese, A., Castagna, A., Ceravolo, R., Altavista, M. C., Scaglione, C., Magistrelli, L., Zibetti, M., Bertolasi, L., Coletti Moja, M., Cotelli, M. S., Cossu, G., Minafra, B., Pisani, A., Misceo, S., Modugno, N., Romano, M., Cassano, D., Berardelli, A., Defazio, G., Cimino, P., Scannapieco, S., Ferrazzano, G., Brigandi, A., Habetswallner, F., Pascarella, A., Ialongo, Tamara, Ramella, M., Mazzucchi, S., Moschella, V., Bentivoglio A. R. (ORCID:0000-0002-9663-095X), Petracca M., Ialongo T., Ercoli, T., Erro, R., Fabbrini, G., Pellicciari, R., Girlanda, P., Terranova, C., Avanzino, L., Di Biasio, F., Barone, P., Esposito, M., De Joanna, G., Eleopra, R., Bono, F., Manzo, L., Bentivoglio, Anna Rita, Petracca, Martina, Mascia, M. M., Albanese, A., Castagna, A., Ceravolo, R., Altavista, M. C., Scaglione, C., Magistrelli, L., Zibetti, M., Bertolasi, L., Coletti Moja, M., Cotelli, M. S., Cossu, G., Minafra, B., Pisani, A., Misceo, S., Modugno, N., Romano, M., Cassano, D., Berardelli, A., Defazio, G., Cimino, P., Scannapieco, S., Ferrazzano, G., Brigandi, A., Habetswallner, F., Pascarella, A., Ialongo, Tamara, Ramella, M., Mazzucchi, S., Moschella, V., Bentivoglio A. R. (ORCID:0000-0002-9663-095X), Petracca M., and Ialongo T.

Abstract

Background: Adult-onset focal dystonia can spread to involve one, or less frequently, two additional body regions. Spread of focal dystonia to a third body site is not fully characterized. Materials and methods: We retrospectively analyzed data from the Italian Dystonia Registry, enrolling patients with segmental/multifocal dystonia involving at least two parts of the body or more. Survival analysis estimated the relationship between dystonia features and spread to a third body part. Results: We identified 340 patients with segmental/multifocal dystonia involving at least two body parts. Spread of dystonia to a third body site occurred in 42/241 patients (17.4%) with focal onset and 10/99 patients (10.1%) with segmental/multifocal dystonia at onset. The former had a greater tendency to spread than patients with segmental/multifocal dystonia at onset. Gender, years of schooling, comorbidity, family history of dystonia/tremor, age at dystonia onset, and disease duration could not predict spread to a third body site. Among patients with focal onset in different body parts (cranial, cervical, and upper limb regions), there was no association between site of focal dystonia onset and risk of spread to a third body site. Discussion and conclusion: Spread to a third body site occurs in a relative low percentage of patients with idiopathic adult-onset dystonia affecting two body parts. Regardless of the site of dystonia onset and of other demographic/clinical variables, focal onset seems to confer a greater risk of spread to a third body site in comparison to patients with segmental/multifocal dystonia at onset.

Published
2021

12. 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

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

Author

Defazio, G., Fabbrini, G., Erro, R., Albanese, Alberto, 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, Anna Rita, 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, Martina, Oppo, V., Barbero, P., Morgante, F., Di Lazzaro, G., Squintani, G., Modugno, N., Albanese A. (ORCID:0000-0002-5864-0006), Bentivoglio A. R. (ORCID:0000-0002-9663-095X), Petracca M., Defazio, G., Fabbrini, G., Erro, R., Albanese, Alberto, 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, Anna Rita, 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, Martina, Oppo, V., Barbero, P., Morgante, F., Di Lazzaro, G., Squintani, G., Modugno, N., Albanese A. (ORCID:0000-0002-5864-0006), Bentivoglio A. R. (ORCID:0000-0002-9663-095X), and Petracca M.

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

14. 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., Lopiano, L., Bentivoglio A. R. (ORCID:0000-0002-9663-095X), 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., Lopiano, L., and Bentivoglio A. R. (ORCID:0000-0002-9663-095X)

Abstract

The original version of this article unfortunately contained a mistake. Alfredo Berardelli and Giovanni Introduction.

Published
2020

15. 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, Alberto, Lalli, S., Eleopra, R., Barone, P., Marchese, R., Ceravolo, R., Scaglione, C., Liguori, R., Esposito, M., Bentivoglio, Anna Rita, Bertolasi, L., Altavista, M. C., Bono, F., Pisani, A., Girlanda, P., Berardelli, A., Albanese A. (ORCID:0000-0002-5864-0006), Bentivoglio A. R. (ORCID:0000-0002-9663-095X), Defazio, G., Ercoli, T., Erro, R., Pellicciari, R., Mascia, M. M., Fabbrini, G., Albanese, Alberto, Lalli, S., Eleopra, R., Barone, P., Marchese, R., Ceravolo, R., Scaglione, C., Liguori, R., Esposito, M., Bentivoglio, Anna Rita, Bertolasi, L., Altavista, M. C., Bono, F., Pisani, A., Girlanda, P., Berardelli, A., Albanese A. (ORCID:0000-0002-5864-0006), and Bentivoglio A. R. (ORCID:0000-0002-9663-095X)

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. 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

21. Which patients discontinue? Issues on Levodopa/carbidopa intestinal gel treatment: Italian multicentre survey of 905 patients with long-term follow-up

Author

Sensi, M., Cossu, G., Mancini, F., Pilleri, M., Zibetti, M., Modugno, N., Quatrale, R., Tamma, F., Antonini, A., Aguggia, M., Amboni, M., Arca, R., Bartolomei, L., Bonetto, N., Calandra-Buonaura, G., Bove, F., Calandrella, D., Canesi, M., Cannas, A., Capecci, M., Caputo, E., Ceravolo, M. G., Ceravolo, R., Cerrone, G., Coletti Moja, M., Comi, C., Cortelli, P., D'Antonio, P., Dematteis, F., Di Lazzaro, V., Eleopra, R., Fabbrini, G., Fichera, M., Grassi, E., Guido, M., Gusmaroli, G., Latorre, A., Malaguti, M. C., Marano, M., Marano, P., Marconi, R., Mazzucchi, S., Meco, G., Minafra, B., Morgante, F., Pacchetti, C., Pierantozzi, M., Pontieri, F. E., Riboldazzi, G., Ricchi, V., Ricchieri, G., Rinaldo, S., Rispoli, V., Rossi, S., Rubino, A., Russo, A., Saddi, M. V., Stefani, A., Simoni, S., Solla, P., Tambasco, N., Tamburin, S., Tessitore, A., Torre, E., Ulivelli, M., Vita M., Gi, Volonté, M. A., on behalf of the, ITALIAN LEVODOPA CARBIDOPA INTESTINAL GEL WORKING GROUP, Sensi, M., Cossu, G., Mancini, F., Pilleri, M., Zibetti, M., Modugno, N., Quatrale, R., Tamma, F., Antonini, A., Aguggia, M., Amboni, M., Arca, R., Bartolomei, L., Bonetto, N., Calandra-Buonaura, G., Bove, F., Calandrella, D., Canesi, M., Cannas, A., Capecci, M., Caputo, E., Ceravolo, M. G., Ceravolo, R., Cerrone, G., Coletti Moja, M., Comi, C., Cortelli, P., D'Antonio, P., Dematteis, F., Di Lazzaro, V., Eleopra, R., Fabbrini, G., Fichera, M., Grassi, E., Guido, M., Gusmaroli, G., Latorre, A., Malaguti, M. C., Marano, M., Marano, P., Marconi, R., Mazzucchi, S., Meco, G., Minafra, B., Morgante, F., Pacchetti, C., Pierantozzi, M., Pontieri, F. E., Riboldazzi, G., Ricchi, V., Ricchieri, G., Rinaldo, S., Rispoli, V., Rossi, S., Rubino, A., Russo, A., Saddi, M. V., Stefani, A., Simoni, S., Solla, P., Tambasco, N., Tamburin, S., Tessitore, A., Torre, E., Ulivelli, M., Vita, M. G., Volonte, M. A., Sensi, Mariachiara, Cossu, Giovanni, Mancini, Francesca, Pilleri, Manuela, Zibetti, Maurizio, Modugno, Nicola, Quatrale, Rocco, Tamma, Filippo, Antonini, Angelo, Italian Levodopa Carbidopa Intestinal Gel Working Group [.., Calandra-Buonaura, Giovanna, Cortelli, Pietro, and ]

Subjects
Male, 0301 basic medicine, Pediatrics, Neurology, Parkinson's disease, Longitudinal Studie, Pharmacology, Antiparkinson Agents, Levodopa, 0302 clinical medicine, Retrospective Studie, Weight loss, Drug Combination, levodopa-carbidopa intestinal gel infusion, neuropathy, parkinson's disease, withdrawal, Longitudinal Studies, Gel, Carbidopa, Parkinson Disease, Health Survey, Intestine, Substance Withdrawal Syndrome, Intestines, Drug Combinations, Italy, Antiparkinson Agent, Withdrawal, Disease Progression, Female, Settore MED/26 - Neurologia, medicine.symptom, Human, medicine.drug, medicine.medical_specialty, Levodopa-carbidopa intestinal gel infusion, Neuropathy, Geriatrics and Gerontology, Neurology (clinical), 03 medical and health sciences, medicine, Humans, Adverse effect, Retrospective Studies, business.industry, Retrospective cohort study, Gels, Health Surveys, medicine.disease, Comorbidity, Discontinuation, 030104 developmental biology, business, 030217 neurology & neurosurgery
Abstract

Objectives To report the results of a national survey aimed at quantifying the current level of diffusion of Levodopa/carbidopa intestinal gel (LCIG) in Italy. Methods Sixty Parkinson's Disease (PD) specialists in Italy were invited to complete a survey covering issues on clinical and practical aspects of LCIG therapy. Results Clinical features of 905 patients were collected retrospectively. The majority of centres reported the use of a multidisciplinary team, biochemistry testing, neurophysiological and neuropsychological tests before and after treatment, in addition to caregivers' training and patient's follow as outpatients. Most centres (60%) used internal guidelines for patient selection. The overall rate of adverse events was 55.1%. Weight loss, chronic polyneuropathy and stoma infection were the most frequently reported. 40% of centres used replacement therapy with Vitamin B12 and Folic acid from the start of LCIG and continued this for the duration of treatment. The rate of discontinuation was of 25.7% overall, with 9.5% of cases occurring in the first year. The main causes of withdrawal were device-related complications, disease progression (comorbidity, severe dementia) and caregiver and/or patient dissatisfaction. Conclusions In Italy LCIG infusion is managed in a uniform manner at a clinical, practical and organizational level even though the selection criteria are not standardized through the country. The high percentage of patients remaining on treatment in the short- and long-term follow-up confirms effectiveness of treatment, careful follow-up, and appropriate patient and caregivers training.

Published
2017

22. PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology

Author

Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ, Bakker EB, Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J, Netherlands Brain Bank, International Parkinsonism Genetics Network, Ferreira J, Correia Guedes L, Chien HF, Barbosa ER, Merola A, Zibetti M, Lopiano L, Tassorelli C, Pacchetti C, Nappi G, Riboldazzi G, Bono G, Padovani A, Borroni B, Fincati E, Bertolasi L, Tinazzi M, Bonizzato A, Dalla Libera A, Guidi M, Marini P, Massaro F, Marconi R, Onofrj M, Thomas A, Vanacore N, Meco G, Fabbrini G, Fabrizio E, Manfredi M, Berardelli A, Stocchi F, Vacca L, De Mari M, Dell'Aquila C, Iliceto G, Lamberti P, Toni V, Trianni G, Saddi V, Cossu G, Melis M., CORTELLI, PIETRO, CAPELLARI, SABINA, Pathology, Human genetics, Neurology, NCA - neurodegeneration, Clinical Genetics, Internal Medicine, Molecular Genetics, Obstetrics & Gynecology, Molecular and Cellular Neurobiology, Neuroscience Campus Amsterdam - Neurodegeneration, AIMMS, Netherlands Institute for Neuroscience (NIN), Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ, Bakker EB, Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J, Netherlands Brain Bank, International Parkinsonism Genetics Network, Ferreira J, Correia Guedes L, Chien HF, Barbosa ER, Merola A, Zibetti M, Lopiano L, Tassorelli C, Pacchetti C, Nappi G, Riboldazzi G, Bono G, Padovani A, Borroni B, Fincati E, Bertolasi L, Tinazzi M, Bonizzato A, Dalla Libera A, Cortelli P, Capellari S, Guidi M, Marini P, Massaro F, Marconi R, Onofrj M, Thomas A, Vanacore N, Meco G, Fabbrini G, Fabrizio E, Manfredi M, Berardelli A, Stocchi F, Vacca L, De Mari M, Dell'Aquila C, Iliceto G, Lamberti P, Toni V, Trianni G, Saddi V, Cossu G, and Melis M

Subjects
Models, Molecular, Male, Electron Microscope Tomography, Pathology, neurofilament, metabolism [Cyclic AMP-Dependent Protein Kinase Catalytic Subunits], pathology [Frontal Lobe], 0302 clinical medicine, chemistry [Cyclic AMP-Dependent Protein Kinase Catalytic Subunits], Models, Missense mutation, metabolism [alpha-Synuclein], Intermediate filament, 0303 health sciences, Parkinsonism, pathology [Neurodegenerative Diseases], Neurodegenerative Diseases, Single Nucleotide, SDG 10 - Reduced Inequalities, Middle Aged, Frontal Lobe, 3. Good health, DNA-Binding Proteins, genetics [Cyclic AMP-Dependent Protein Kinase RIbeta Subunit], metabolism [Frontal Lobe], PRKAR1B, neurodegenerative disorders, genetics [Polymorphism, Single Nucleotide], alpha-Synuclein, Female, metabolism [DNA-Binding Proteins], Frontotemporal dementia, medicine.medical_specialty, Neurofilament, Protein subunit, metabolism [Amyloid beta-Peptides], Nerve Tissue Proteins, tau Proteins, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, medicine, Humans, ddc:610, Polymorphism, Protein kinase A, Hereditary Neurodegenerative Disorder, Genetic Association Studies, Aged, 030304 developmental biology, Family Health, intermediate filament, Cyclic AMP-Dependent Protein Kinase Catalytic Subunits, metabolism [Nerve Tissue Proteins], Amyloid beta-Peptides, protein kinase A Calpha, protein kinase A, Molecular, medicine.disease, Molecular biology, metabolism [tau Proteins], ultrastructure [Frontal Lobe], PRKAR1B protein, human, genetics [Neurodegenerative Diseases], Parkinson’s disease, Cyclic AMP-Dependent Protein Kinase RIbeta Subunit, Neurology (clinical), 030217 neurology & neurosurgery
Abstract

Inclusions of intermediate filaments are found in a number of neurodegenerative diseases. Using whole exome sequencing, linkage analysis and proteomics, Wong and Chiu et al. identify a new familial neurodegenerative disease with intermediate filament inclusions, linked to a mutation in the gene encoding the PKA type I-beta regulatory subunit, PRKAR1B.Pathological accumulation of intermediate filaments can be observed in neurodegenerative disorders, such as Alzheimer's disease, frontotemporal dementia and Parkinson's disease, and is also characteristic of neuronal intermediate filament inclusion disease. Intermediate filaments type IV include three neurofilament proteins (light, medium and heavy molecular weight neurofilament subunits) and alpha-internexin. The phosphorylation of intermediate filament proteins contributes to axonal growth, and is regulated by protein kinase A. Here we describe a family with a novel late-onset neurodegenerative disorder presenting with dementia and/or parkinsonism in 12 affected individuals. The disorder is characterized by a unique neuropathological phenotype displaying abundant neuronal inclusions by haematoxylin and eosin staining throughout the brain with immunoreactivity for intermediate filaments. Combining linkage analysis, exome sequencing and proteomics analysis, we identified a heterozygous c.149T > G (p.Leu50Arg) missense mutation in the gene encoding the protein kinase A type I-beta regulatory subunit (PRKAR1B). The pathogenicity of the mutation is supported by segregation in the family, absence in variant databases, and the specific accumulation of PRKAR1B in the inclusions in our cases associated with a specific biochemical pattern of PRKAR1B. Screening of PRKAR1B in 138 patients with Parkinson's disease and 56 patients with frontotemporal dementia did not identify additional novel pathogenic mutations. Our findings link a pathogenic PRKAR1B mutation to a novel hereditary neurodegenerative disorder and suggest an altered protein kinase A function through a reduced binding of the regulatory subunit to the A-kinase anchoring protein and the catalytic subunit of protein kinase A, which might result in subcellular dislocalization of the catalytic subunit and hyperphosphorylation of intermediate filaments.

Published
2014
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23. Spread of dystonia in patients with idiopathic adult-onset laryngeal dystonia

Author

Esposito, M., Fabbrini, G., Ferrazzano, G., Berardelli, A., Peluso, S., Cesari, U., Gigante, A. F., Bentivoglio, Anna Rita, Petracca, Martina, Erro, R., Barone, P., Schirinzi, T., Eleopra, R., Avanzino, L., Romano, M., Scaglione, C. L., Cossu, G., Morgante, F., Minafra, B., Zibetti, M., Coletti Moja, M., Turla, Mario, Fadda, L., Defazio, G., Bentivoglio, A. R. (ORCID:0000-0002-9663-095X), Petracca, M., Esposito, M., Fabbrini, G., Ferrazzano, G., Berardelli, A., Peluso, S., Cesari, U., Gigante, A. F., Bentivoglio, Anna Rita, Petracca, Martina, Erro, R., Barone, P., Schirinzi, T., Eleopra, R., Avanzino, L., Romano, M., Scaglione, C. L., Cossu, G., Morgante, F., Minafra, B., Zibetti, M., Coletti Moja, M., Turla, Mario, Fadda, L., Defazio, G., Bentivoglio, A. R. (ORCID:0000-0002-9663-095X), and Petracca, M.

Abstract

Background and purpose: Adult-onset laryngeal dystonia (LD) can be isolated or can be associated with dystonia in other body parts. Combined forms can be segmental at the onset or can result from dystonia spread to or from the larynx. The aim of this study was to identify the main clinical and demographic features of adult-onset idiopathic LD in an Italian population with special focus on dystonia spread. Methods: Data were obtained from the Italian Dystonia Registry (IDR) produced by 37 Italian institutions. Clinical and demographic data of 71 patients with idiopathic adult-onset LD were extracted from a pool of 1131 subjects included in the IDR. Results: Fifty of 71 patients presented a laryngeal focal onset; the remaining subjects had onset in other body regions and later laryngeal spread. The two groups did not show significant differences of demographic features. 32% of patients with laryngeal onset reported spread to contiguous body regions afterwards and in most cases (12 of 16 subjects) dystonia started to spread within 1 year from the onset. LD patients who remained focal and those who had dystonia spread did not show other differences. Conclusions: Data from IDR show that dystonic patients with focal laryngeal onset will present spread in almost one-third of cases. Spread from the larynx occurs early and is directed to contiguous body regions showing similarities with clinical progression of blepharospasm. This study gives a new accurate description of LD phenomenology that may contribute to improving the comprehension of dystonia pathophysiology.

Published
2018

24. Correction to: The Italian Dystonia Registry: rationale, design and preliminary findings (Neurological Sciences, (2017), 38, 5, (819-825), 10.1007/s10072-017-2839-3)

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, Laura, Bono, F., Mazza, M. R., Bertolasi, L., Bacchin, R., Eleopra, R., Lettieri, C., Morgante, F., Altavista, M. C., Polidori, Lorenzo, Liguori, R., Misceo, S., Squintani, G., Tinazzi, M., Ceravolo, R., Unti, E., Magistrelli, L., Coletti Moja, M., Modugno, N., Petracca, Martina, Tambasco, N., Cotelli, M. S., Aguggia, M., Pisani, A., Romano, M., Zibetti, M., Bentivoglio, Anna Rita, Albanese, Alberto, Girlanda, P., Berardelli, A., Polidori, L., Petracca, M., Bentivoglio, A. R. (ORCID:0000-0002-9663-095X), Albanese, A. (ORCID:0000-0002-5864-0006), 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, Laura, Bono, F., Mazza, M. R., Bertolasi, L., Bacchin, R., Eleopra, R., Lettieri, C., Morgante, F., Altavista, M. C., Polidori, Lorenzo, Liguori, R., Misceo, S., Squintani, G., Tinazzi, M., Ceravolo, R., Unti, E., Magistrelli, L., Coletti Moja, M., Modugno, N., Petracca, Martina, Tambasco, N., Cotelli, M. S., Aguggia, M., Pisani, A., Romano, M., Zibetti, M., Bentivoglio, Anna Rita, Albanese, Alberto, Girlanda, P., Berardelli, A., Polidori, L., Petracca, M., Bentivoglio, A. R. (ORCID:0000-0002-9663-095X), and Albanese, A. (ORCID:0000-0002-5864-0006)

Abstract

N/A

Published
2018

25. Prevalence of fatigue in Parkinson disease and its clinical correlates

Author

Stocchi, F., Abbruzzese, G., Ceravolo, R., Cortelli, P., D'Amelio, M., De Pandis, M., Fabbrini, G., Pacchetti, C., Pezzoli, G., Tessitore, A., Canesi, M., Iannacone, C., Zappia, M., For the FORTE Study Group, Stocchi,F, Abbruzzese,G, Ceravolo, R, Cortelli, P, D’Amelio, M, De Pandis, MF, Fabbrini, G, Pacchetti, C, Pezzoli, G, Tessitore, A, Canesi, M, Iannacone, C, Zappia, M, For the FORTE Study Group, Stocchi, F, Abbruzzese, G, D'Amelio, M, De Pandis, Mf, Tessitore, Alessandro, Zappia, M., Stocchi, F., Abbruzzese, G., Ceravolo, R., Cortelli, P., D'Amelio, M., De Pandis, M.F., Fabbrini, G., Pacchetti, C., Pezzoli, G., Tessitore, A., Canesi, M., and Iannacone, C.

Subjects
Male, Time Factors, Disease, DSM-IV 5 Diagnostic and Statistical Manual of Mental Disorders, 4th edition, ICD-10 5 International Classification of Diseases, 10th revision, MAO-B 5 monoamine oxidase B, MS 5 multiple sclerosis, PD 5 Parkinson disease, PDQ-39 5 39-item Parkinson’s Disease Questionnaire, PDSS 5 Parkinson’s Disease Sleep Scale, PFS-16 5 16-item Parkinson Fatigue Scale, UPDRS 5 Unified Parkinson’s Disease Rating Scale, Severity of Illness Index, Quality of life, 80 and over, Prevalence, Age Factor, Depression (differential diagnoses), Fatigue, Aged, 80 and over, Depression, musculoskeletal, neural, and ocular physiology, Age Factors, Parkinson Disease, Middle Aged, Italy, Female, Settore MED/26 - Neurologia, MS 5 multiple sclerosi, Psychology, Human, Adult, Sleep Wake Disorders, medicine.medical_specialty, macromolecular substances, Arts and Humanities (miscellaneous), Internal medicine, medicine, Distressing, Humans, In patient, Aged, Cross-Sectional Studie, nervous system diseases, Cross-Sectional Studies, Neurology (clinical), nervous system, Physical therapy, Sleep Disorder
Abstract

Objective: To assess in a noninterventional setting the prevalence and severity of fatigue in patients with Parkinson disease (PD). Methods: This was a cross-sectional study conducted in Italian patients with PD. Objectives included the evaluation of the current prevalence and severity of fatigue in patients with PD measured using the 16-item Parkinson Fatigue Scale (PFS-16), distressing fatigue (defined as a PFS-16 mean score $3.3), and assessment of its clinical correlates. Results: A total of 402 patients were enrolled and 394 patients completed the PFS-16 questionnaire with a PFS-16 mean (6SD) score of 2.87 6 0.99. Of these, 136 patients (33.8%) reported distressing fatigue (PFS-16 mean score $3.3). Patients with distressing fatigue were older (p 5 0.044) and had a longer duration of PD (p , 0.0001) than those without distressing fatigue. The presence of distressing fatigue was associated with higher total Unified Parkinson’s Disease Rating Scale (UPDRS) scores, poorer quality of life (39-item Parkinson’s Disease Questionnaire [PDQ-39]), worse social and psychological behaviors, a higher severity of depressive symptoms, and a higher prevalence of sleep disorders (all p , 0.001). Logistic regression analyses revealed that higher total UPDRS scores, female sex, depression, sleep disorders, as well as higher UPDRS activities of daily living scores and PDQ-39 mobility scores increase the likelihood of distressing fatigue in patients with PD. Conclusions: Approximately one-third of patients with PD have distressing fatigue, which is significantly associated with depression and sleep disorders. The fact that the presence of fatigue worsens patient quality of life supports the need to better diagnose and treat this debilitating symptom.

Published
2014

26. Relationship between pain and motor and non-motor symptoms in Parkinson's disease

Author

Defazio, G, Antonini, A, Tinazzi, M, Gigante, A F, Pietracupa, S, Pellicciari, R, Bloise, M, Bacchin, R, Marcante, A, Fabbrini, G, Berardelli, A, and Domenicucci, Maurizio

Subjects
Adult, Male, 0301 basic medicine, medicine.medical_specialty, Parkinson's disease, Disease, motor symptoms, non-motor symptoms, pain, Logistic regression, 03 medical and health sciences, Cognition, Sex Factors, 0302 clinical medicine, Internal medicine, Humans, Medicine, Neurology, Neurology (clinical), Fatigue, Aged, Aged, 80 and over, Movement Disorders, Depression, Mood Disorders, business.industry, Chronic pain, Parkinson Disease, Odds ratio, Middle Aged, medicine.disease, 030104 developmental biology, Mood, Italy, Physical therapy, Non motor, Female, Chronic Pain, business, 030217 neurology & neurosurgery
Abstract

Background and purpose Although female gender, depressive symptoms and medical conditions predisposing to pain are more common in patients with Parkinson's disease (PD) with pain, no study has yet explored the relationship between pain and other non-motor symptoms (NMS). Methods A total of 321 consecutive patients with PD [190 men/131 women aged 68.3 (SD 9.2) years] attending four Italian movement disorder clinics were studied. Demographic/clinical data were obtained by a standardized interview and the NMS scale. The association of pain with motor and NMS was assessed by multivariable logistic regression models. Results At the time of the study, 180 patients with PD (56%) reported chronic pain that, in most cases, was described as being muscular or arthralgic pain. Pain preceded the onset of motor signs in 36/180 patients. In the main-effect model, factors independently associated with pain were female sex [odds ratio (OR), 2.1; P = 0.01], medical conditions predisposing to pain (OR, 2.9; P < 0.001), Hoehn–Yahr staging (OR, 1.9; P = 0.04), motor complications (OR, 4.7; P = 0.04) and NMS belonging to the sleep/fatigue (OR, 1.6; P = 0.04) and mood/cognition (OR, 1.6; P = 0.03) domains. Most explanatory variables in the multivariable analysis were similarly distributed in patients in whom pain may have been related to PD or to a cause other than PD. Conclusions We confirm that pain in PD is more frequent in women and in subjects with medical conditions predisposing to painful symptoms. Moreover, this strengthens the association between pain and motor severity measures and NMS domains, particularly sleep and mood disturbances.

Published
2017

27. Clinical variables associated with treatment changes in Parkinson’s disease: results from the longitudinal phase of the REASON study

Author

Abbruzzese, Giovanni, Barone, Paolo, Ceravolo, Roberto, Fabbrini, Giovanni, Lessi, Patrizia, Ori, Alessandra, Simoni, Lucia, Tinazzi, Michele, Antonini, Angelo, Melone, MAB, Schettino, C, Capaldo, G, Iemolo, F, Sanzaro, E, Ceravolo, MG, Capecci, M, Andrenelli, E, Pontieri, FE, Pellicano, C, Benincasa, D, Fabbrini, G, Pietracupa, S, Latorre, A, Tedeschi, G, Tessitore, A, Giordano, A, Bonuccelli, U, Frosini, D, Vanelli, F, Comi, G, Volonté, MA, Spagnolo, F, Scaglioni, A, Abrignani, G, Abbruzzese, G, Avanzino, L, Tamburini, T, Antonini, A, Facchini, S, Biundo, R, Altavista, MC, Roberti, C, Avarello, T, Bono, G, Riboldazzi, G, Leva, S, Del Sette, M, Carabelli, E, Traverso, E, Michelucci, R, Nassetti, S, Pasini, E, Padovani, A, Cottini, E, Bigni, B, Ruggieri, S, Modugno, N, Fischetti, M, Stefani, A, Pierantozzi, M, Stampanoni Bassi, M, Tinazzi, M, Ottaviani, S, Ajena, D, Trianni, G, Caggiula, M, Valenti, G, My, F, Grioli, S, La Farina, I, Zambito Marsala, S, Marchini, C, Gioulis, M, Asteggiano, G, L’Episcopo, MR, Saracco, E, Barone, P, Picillo, M, Moccia, M, Onofrj, M, Thomas, A, Denaro, A, Marini, C, De Santis, F, Spagnoli, V, L’Erario, R, Passadore, P, Belgrado, E, Mucchiut, M, Priori, A, Cogiamanian, F, Marchet, A., Abbruzzese, Giovanni, Barone, Paolo, Ceravolo, Roberto, Fabbrini, Giovanni, Lessi, Patrizia, Ori, Alessandra, Simoni, Lucia, Tinazzi, Michele, Antonini, Angelo, Melone, Mab, Schettino, C, Capaldo, G, Iemolo, F, Sanzaro, E, Ceravolo, Mg, Capecci, M, Andrenelli, E, Pontieri, Fe, Pellicano, C, Benincasa, D, Fabbrini, G, Pietracupa, S, Latorre, A, Tedeschi, G, Tessitore, A, Giordano, A, Bonuccelli, U, Frosini, D, Vanelli, F, Comi, G, Volonté, Ma, Spagnolo, F, Scaglioni, A, Abrignani, G, Abbruzzese, G, Avanzino, L, Tamburini, T, Antonini, A, Facchini, S, Biundo, R, Altavista, Mc, Roberti, C, Avarello, T, Bono, G, Riboldazzi, G, Leva, S, Del Sette, M, Carabelli, E, Traverso, E, Michelucci, R, Nassetti, S, Pasini, E, Padovani, A, Cottini, E, Bigni, B, Ruggieri, S, Modugno, N, Fischetti, M, Stefani, A, Pierantozzi, M, Stampanoni Bassi, M, Tinazzi, M, Ottaviani, S, Ajena, D, Trianni, G, Caggiula, M, Valenti, G, My, F, Grioli, S, La Farina, I, Zambito Marsala, S, Marchini, C, Gioulis, M, Asteggiano, G, L’Episcopo, Mr, Saracco, E, Barone, P, Picillo, M, Moccia, M, Onofrj, M, Thomas, A, Denaro, A, Marini, C, De Santis, F, Spagnoli, V, L’Erario, R, Passadore, P, Belgrado, E, Mucchiut, M, Priori, A, Cogiamanian, F, and Marchet, A.

Subjects
Male, medicine.medical_specialty, Clinical variables, Neurology, Parkinson's disease, Motor symptoms, Non-motor symptoms, Parkinson’s disease, Treatment persistence, Aged, Female, Humans, Longitudinal Studies, Middle Aged, Parkinson Disease, Physician's Role, Severity of Illness Index, Treatment Outcome, Neurology (clinical), Psychiatry and Mental Health, 2708, Longitudinal Studie, Dermatology, Disease, Internal medicine, motor symptoms,non-motor symptoms, Parkinson’s disease,treatment persistence, Severity of illness, Medicine, Neuroradiology, business.industry, musculoskeletal, neural, and ocular physiology, General Medicine, medicine.disease, nervous system diseases, cardiovascular system, Physical therapy, Neurosurgery, business, Human
Abstract

To assess over a period of 9 months in a sample of Italian Parkinson’s disease (PD) patients reasons leading the neurologist to modify dopaminergic treatment and patients’ causes of dissatisfaction with ongoing therapy. To evaluate the influence of disease severity on therapy persistence. A disease severity balanced sample of PD patients with stable anti-parkinsonian drugs (APD) treatment was enrolled and evaluated every 3 months. Patients requiring APD treatment modifications were discontinued from the study. The probability to modify APD treatment is greater for higher motor (UPDRS scores) and non-motor symptoms (NMSS score) severity. Both from neurologist’s and patient’s perspective, motor symptoms were the main determinants underlying APD treatment modifications. Non-motor symptoms were cause of dissatisfaction with ongoing APD treatment for 52 % of the patients, while only 36 % of the neurologists considered these as valid reasons for therapy change. REASON is the first study in PD patients that prospectively examined reasons driving APD treatment changes. Results show that the disease severity significantly increases the probability of APD treatment change. Patients attribute greater relevance than neurologists to non-motor symptoms as reason requiring treatment changes. This confirms that patient and neurologist perceptions only partially overlap.

Published
2015

28. Adherence to anti-Parkinson drug therapy in the 'REASON' sample of Italian patients with Parkinson's disease: the linguistic validation of the Italian version of the 'Morisky Medical Adherence Scale-8 items'

Author

Fabbrini, G, Abbruzzese, G, Barone, P, Antonini, A, Tinazzi, M, Castegnaro, G, Rizzoli, S, Morisky, De, Lessi, P, Abbruzzese G, Cr, Ceravolo, R, Melone, M, Schettino, C, Califano, F, Ceravolo, M, Capecci, M, Andrenelli, E, Iemolo, F, Spadaro, D, Carnemolla, A, Pontieri, F, Pellicano, C, Benincasa, D, Pietracupa, S, Latorre, A, Tedeschi, G, Tessitore, A, Giordano, A, Bonuccelli, U, Frosini, D, Vanelli, F, Comi, G, Volonté, M, Spagnolo, F, Scaglioni, A, Abrignani, G, Avanzino, L, Tamburini, T, Facchini, S, Biundo, R, Altavista, M, Roberti, C, Asteggiano, G, L'Episcopo, M, Saracco, E, Avarello, T, Bono, G, Riboldazzi, G, Leva, S, Del Sette, M, Carabelli, E, Traverso, E, Michelucci, R, Nassetti, S, Pasini, E, Padovani, A, Cottini, E, Bigni, B, Ruggieri, S, Modugno, N, Fischetti, M, Stefani, A, Pierantozzi, M, Stampanoni Bassi, M, Ottaviani, S, Ajena, D, Trianni, G, My, F, Caggiula, M, Valenti, G, Grioli, S, La Farina, I, Zambito Marsala, S, Marchini, C, Gioulis, M, Picillo, M, Moccia, M, Denaro, A, Sebastianelli, L, Onofrj, M, Thomas, A, Marini, C, De Santis, F, Spagnoli, V, L'Erario, R, Passadore, P, Belgrado, E, Mucchiut, M, Priori, A, Cogiamanian, F, Marchet, A, Ori, A, Pirondi, S, Roncari, B, Sala, S, Sgarbi, S, Simoni, L, Trevisan, F, Zanoli, L, Fabbrini, G, Abbruzzese, G, Antonini, A, Barone, P, Ceravolo, R, Tinazzi, M, Melone, Mariarosa Anna Beatrice, Schettino, C, Califano, F, Ceravolo, Mg, Capecci, M, Andrenelli, E, Iemolo, F, Spadaro, D, Carnemolla, A, Pontieri, Fe, Pellicano, C, Benincasa, D, Pietracupa, S, Latorre, A, Tedeschi, Gioacchino, Tessitore, Alessandro, Giordano, A, Bonuccelli, U, Frosini, D, Vanelli, F, Comi, G, Volonté, Ma, Spagnolo, F, Scaglioni, A, Abrignani, G, Avanzino, L, Tamburini, T, Facchini, S, Biundo, R, Altavista, Mc, Roberti, C, Asteggiano, G, L'Episcopo, Mr, Saracco, E, Avarello, T, Bono, G, Riboldazzi, G, Leva, S, Nullm, nullDel Sette, Carabelli, E, Traverso, E, Michelucci, R, Nassetti, S, Pasini, E, Padovani, A, Cottini, E, Bigni, B, Ruggieri, S, Modugno, N, Fischetti, M, Stefani, A, Pierantozzi, M, Nullm, nullStampanoni Bassi, Ottaviani, S, Ajena, D, Trianni, G, My, F, Caggiula, M, Valenti, G, Grioli, S, Nulli, nullLa Farina, Nulls, nullZambito Marsala, Marchini, C, Gioulis, M, Picillo, M, Moccia, M, Denaro, A, Sebastianelli, L, Onofrj, M, Thomas, A, Marini, C, Nullf, nullDe Santi, Spagnoli, V, L'Erario, R, Passadore, P, Belgrado, E, Mucchiut, M, Priori, A, Cogiamanian, F, Marchet, A, Lessi, P, Castegnaro, G, Ori, A, Pirondi, S, Rizzoli, S, Roncari, B, Sala, S, Sgarbi, S, Simoni, L, Trevisan, F, Zanoli, L., Fabbrini, G., Abbruzzese, G., Barone, P., Antonini, A., Tinazzi, M., Castegnaro, G., Rizzoli, S., Morisky, D. E., Lessi, P., Ceravolo, R., Melone, M. A., Schettino, C., Califano, F., Ceravolo, M. G., Capecci, M., Andrenelli, E., Iemolo, F., Spadaro, D., Carnemolla, A., Pontieri, F. E., Pellicano, C., Benincasa, D., Pietracupa, S., Latorre, A., Tedeschi, G., Tessitore, A., Giordano, A., Bonuccelli, U., Frosini, D., Vanelli, F., Comi, G., Volonte, M. A., Spagnolo, F., Scaglioni, A., Abrignani, G., Avanzino, L., Tamburini, T., Facchini, S., Biundo, R., Altavista, M. C., Roberti, C., Asteggiano, G., L'Episcopo, M. R., Saracco, E., Avarello, T., Bono, G., Riboldazzi, G., Leva, S., Del Sette, M., Carabelli, E., Traverso, E., Michelucci, R., Nassetti, S., Pasini, E., Padovani, A., Cottini, E., Bigni, B., Ruggieri, S., Modugno, N., Fischetti, M., Stefani, A., Pierantozzi, M., Stampanoni Bassi, M., Ottaviani, S., Ajena, D., Trianni, G., My, F., Caggiula, M., Valenti, G., Grioli, S., La Farina, I., Zambito Marsala, S., Marchini, C., Gioulis, M., Picillo, M., Moccia, M., Denaro, A., Sebastianelli, L., Onofrj, M., Thomas, A., Marini, C., De Santis, F., Spagnoli, V., L'Erario, R., Passadore, P., Belgrado, E., Mucchiut, M., Priori, A., Cogiamanian, F., Marchet, A., Ori, A., Pirondi, S., Roncari, B., Sala, S., Sgarbi, S., Simoni, L., Trevisan, F., Morisky, De, Comi, Giancarlo, and REASON study, Group

Subjects
Predictive validity, Male, Translation, Parkinson's disease, Adherence, Comprehension, Validation, Aged, Antiparkinson Agents, Female, Humans, Parkinson Disease, Translations, Medication Adherence, Surveys and Questionnaires, Neurology (clinical), Psychiatry and Mental Health, 2708, MEDLINE, Dermatology, Disease, Linguistic validation, Pharmacotherapy, Quality of life, Medicine, business.industry, General Medicine, Parkinson’s disease, medicine.disease, Psychiatry and Mental health, Antiparkinson Agent, Settore MED/26 - Neurologia, business, Human, Clinical psychology
Abstract

Information about patients' adherence to therapy represents a primary issue in Parkinson's disease (PD) management. To perform the linguistic validation of the Italian version of the self-rated 8-Item Morisky Medical Adherence Scale (MMAS-8) and to describe in a sample of Italian patients affected by PD the adherence to anti-Parkinson drug therapy and the association between adherence and some socio-demographic and clinical features. MMAS-8 was translated into Italian language by two independent Italian mother-tongue translators. The consensus version was then back-translated by an English mother-tongue translator. This translation process was followed by a consensus meeting between the authors of translation and investigators and then by two comprehension tests. The translated version of the MMAS-8 scale was then administered at the baseline visit of the "REASON" study (Italian Study on the Therapy Management in Parkinson's disease: Motor, Non-Motor, Adherence and Quality Of Life Factors) in a large sample of PD patients. The final version of the MMAS-8 was easily understood. Mean ± SD MMAS-8 score was 6.1 ± 1.2. There were no differences in adherence to therapy in relationship to disease severity, gender, educational level or decision to change therapy. The Italian version of MMAS-8, the key tool of the REASON study to assess the adherence to therapy, has shown to be understandable to patients with PD. Patients enrolled in the REASON study showed medium therapy adherence.

Published
2013

29. Reasons driving treatment modification in Parkinson's disease: Results from the cross-sectional phase of the REASON study

Author

Tinazzi, M, Abbruzzese, G, Antonini, A, Ceravolo, R, Fabbrini, G, Lessi, P, Barone, P, REASON Study Group:Abruzzese, G, Lido, V, Melone, M, Schettino, C, Califano, F, Ceravolo, M, Capecci, M, Andrenelli, E, Iemolo, F, Spadaro, D, Carnemolla, A, Pontieri, F, Pellicano, C, Benincasa, D, Pietracupa, S, Latorre, A, Tedeschi, G, Tessitore, A, Giordano, A, Bonuccelli, U, Frosini, D, Vanelli, F, Comi, G, Volonté, M, Spagnolo, F, Scaglioni, A, Abrignani, G, Avanzino, L, Tamburini, T, Facchini, S, Biundo, R, Altavista, M, Roberti, C, Asteggiano, G, L'Episcopo, M, Saracco, E, Avarello, T, Bono, G, Riboldazzi, G, Leva, S, Del, S, Carabelli, M, E, Traverso, E, Michelucci, R, Nassetti, S, Pasini, E, Padovani, A, Cottini, E, Bigni, B, Ruggieri, S, Modugno, N, Fischetti, M, Stefani, A, Pierantozzi, M, Bassi, M, Ottaviani, S, Ajena, D, Trianni, G, My, F, Caggiula, M, Valenti, G, Grioli, S, La Farina, I, Zambito Marsala, S, Marchini, C, Gioulis, M, Picillo, M, Moccia, M, Denaro, A, Sebastianelli, L, Onofrj, M, Thomas, A, Marini, C, De Santis, F, Spagnoli, V, L'Erario, R, Passadore, P, Belgrado, E, Mucchiut, M, Priori, A, Cogiamanian, F, Marchet, A, Tinazzi, M, Abbruzzese, G, Antonini, A, Ceravolo, R, Fabbrini, G, Lessi, P, Barone, P, Lido, V, Melone, M, Schettino, C, Califano, F, Ceravolo, Mg, Capecci, M, Andrenelli, E, Iemolo, F, Spadaro, D, Carnemolla, A, Pontieri, F, Pellicano, C, Benincasa, D, Pietracupa, S, Latorre, A, Tedeschi, G, Tessitore, A, Giordano, A, Bonuccelli, U, Frosini, D, Vanelli, F, Comi, G, Volonté, M, Spagnolo, F, Scaglioni, A, Abrignani, G, Avanzino, L, Tamburini, T, Facchini, S, Biundo, R, Altavista, M, Roberti, C, Asteggiano, G, L'Episcopo, M, Saracco, E, Avarello, T, Bono, G, Riboldazzi, G, Leva, S, Del, Sette, M, Carabelli, E, Traverso, E, Michelucci, R, Nassetti, S, Pasini, E, Padovani, A, Cottini, E, Bigni, B, Ruggieri, S, Modugno, N, Fischetti, M, Stefani, A, Pierantozzi, M, Bassi, M, Ottaviani, S, Ajena, D, Trianni, G, My, F, Caggiula, M, Valenti, G, Grioli, S, La, Farina, I, Zambito, Marsala, S, Marchini, C, Gioulis, M, Picillo, M, Moccia, M, Denaro, A, Sebastianelli, L, Onofrj, M, Thomas, A, Marini, C, De, Santi, F, Spagnoli, V, L'Erario, R, Passadore, P, Belgrado, E, Mucchiut, M, Priori, A, Cogiamanian, F, Marchet, A., Tinazzi, M., Abbruzzese, G., Antonini, A., Ceravolo, R., Fabbrini, G., Lessi, P., Barone, P., Melone, M. A. B., Schettino, C., Califano, F., Ceravolo, M. G., Capecci, M., Andrenelli, E., Iemolo, F., Spadaro, D., Carnemolla, A., Pontieri, F. E., Pellicano, C., Benincasa, D., Pietracupa, S., Latorre, A., Tedeschi, G., Tessitore, A., Giordano, A., Bonuccelli, U., Frosini, D., Vanelli, F., Comi, G., Volonte, M. A., Spagnolo, F., Scaglioni, A., Abrignani, G., Avanzino, L., Tamburini, T., Facchini, S., Biundo, R., Altavista, M. C., Roberti, C., Asteggiano, G., L'Episcopo, M. R., Saracco, E., Avarello, T., Bono, G., Riboldazzi, G., Leva, S., Del Sette, M., Carabelli, E., Traverso, E., Michelucci, R., Nassetti, S., Pasini, E., Padovani, A., Cottini, E., Bigni, B., Ruggieri, S., Modugno, N., Fischetti, M., Stefani, A., Pierantozzi, M., Stampanoni Bassi, M., Ottaviani, S., Ajena, D., Trianni, G., My, F., Caggiula, M., Valenti, G., Grioli, S., La Farina, I., Zambito Marsala, S., Marchini, C., Gioulis, M., Picillo, M., Moccia, M., Denaro, A., Sebastianelli, L., Onofrj, M., Thomas, A., Marini, C., De Santis, F., Spagnoli, V., L'Erario, R., Passadore, P., Belgrado, E., Mucchiut, M., Priori, A., Cogiamanian, F., Lessi, and Comi, Giancarlo

Subjects
Male, Pediatrics, Parkinson's disease, anti-Parkinson drugs, motor symptoms, non-motor symptoms, Practice Patterns, Socioeconomic Factor, Motor symptoms, Severity of Illness Index, Antiparkinson Agents, Cohort Studies, Motor symptom, Practice Patterns, Physicians', Stage (cooking), Anti-Parkinson drug, Anti-Parkinson drugs, Non-motor symptoms, Aged, Female, Humans, Middle Aged, Parkinson Disease, Patient Satisfaction, Socioeconomic Factors, Geriatrics and Gerontology, Neurology (clinical), Neurology, musculoskeletal, neural, and ocular physiology, Antiparkinson Agent, cardiovascular system, Settore MED/26 - Neurologia, Treatment modification, Human, medicine.medical_specialty, Non-motor symptom, Disease severity, medicine, In patient, Physicians', business.industry, Advanced stage, medicine.disease, nervous system diseases, Physical therapy, Treatment decision making, Cohort Studie, business
Abstract

OBJECTIVES: To assess the association between clinical and socio-demographic features and anti-Parkinson drug (APD) treatment modifications in patients with PD and to describe neurologist and patient opinions regarding the need for changes in APD therapy. METHODS: Subjects with PD with stable APD treatment over ≥3 months prior to baseline were enrolled and evaluated for socio-demographic data, disability, disease severity and neurologist and patient views on the need to modify APD treatment. RESULTS: 775 Patients were included, 51% with Hoehn and Yahr (HY) stage 1-2 (early PD) and 49% with HY stage 2.5-4 (advanced PD). Neurologists modified APD treatment in 255 patients, 97 (25%) early PD and 158 (41%; p < 0.0001) advanced PD. APD modification was strongly associated with a low educational level and UPDRS part IV score. The most common reasons behind the APD therapy changes among neurologists were presence/worsening of motor or non-motor symptoms (88% and 37% of subjects respectively). Out of 216 patients, 92% and 51% were willing to undergo APD changes to therapy because of the presence/worsening of motor or non-motor symptoms. CONCLUSIONS: Neurologist decision to change APD therapy and patients reasons for dissatisfaction with it can be prevalently attributed to the presence/worsening of motor symptoms and motor fluctuations in the advanced stages. Non-motor symptoms were considered more often by patients. The patient educational level played a key role in treatment decision.

Published
2013

30. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes

Author

Bonifati V., Rohe C. F., Breedveld G. J., Fabrizio E., De Mari M., Tassorelli C., Tavella A., Marconi R., Nicholl D. J., Chien H. F., Fincati E., Abbruzzese G., Marini P., De Gaetano A., Horstink M. W., Maat Kievit J. A., Sampaio C., Antonini A., Stocchi F., Toni V., Guidi M., Dalla Libera A., Tinazzi M., De Pandis F., Fabbrini G., Goldwurm S., de Klein A., Barbosa E., Lopiano L., Martignoni E., Lamberti P., Vanacore N., Meco G., Oostra B.A., Italian Parkinson Genetics Network, MONTAGNA, PASQUALE, Bonifati V., Rohe C.F., Breedveld G.J., Fabrizio E., De Mari M., Tassorelli C., Tavella A., Marconi R., Nicholl D.J., Chien H.F., Fincati E., Abbruzzese G., Marini P., De Gaetano A., Horstink M.W., Maat-Kievit J.A., Sampaio C., Antonini A., Stocchi F., Montagna P., Toni V., Guidi M., Dalla Libera A., Tinazzi M., De Pandis F., Fabbrini G., Goldwurm S., de Klein A., Barbosa E., Lopiano L., Martignoni E., Lamberti P., Vanacore N., Meco G., Oostra BA., Italian Parkinson Genetics Network., and Clinical Genetics

Subjects
Adult, Male, DNA, Complementary, Adolescent, Genotype, Parkinson's disease, assessment, DNA Mutational Analysis, Mutation, Missense, Biology, Early-onset parkinsonism, medicine.disease_cause, Genotype-phenotype distinction, Cognitive neurosciences [UMCN 3.2], Gene Frequency, PINK1 gene mutations, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Genetic Testing, Allele, Age of Onset, Child, Allele frequency, Genetics, Mutation, Parkinson'disease, Genome, Polymorphism, Genetic, Sequence Homology, Amino Acid, Parkinsonism, Parkinson Disease, Middle Aged, medicine.disease, Phenotype, Italy, Female, Neurology (clinical), Age of onset, Protein Kinases
Abstract

Item does not contain fulltext OBJECTIVE: To assess the prevalence, nature, and associated phenotypes of PINK1 gene mutations in a large series of patients with early-onset (

Published
2005

31. 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, Martina, Tambasco, N., Cotelli, M. S., Aguggia, M., Pisani, A., Romano, M., Zibetti, M., Bentivoglio, Anna Rita, Albanese, Alberto, Girlanda, P., Berardelli, A., Petracca, M., Bentivoglio, A. R. (ORCID:0000-0002-9663-095X), Albanese, A. (ORCID:0000-0002-5864-0006), 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, Martina, Tambasco, N., Cotelli, M. S., Aguggia, M., Pisani, A., Romano, M., Zibetti, M., Bentivoglio, Anna Rita, Albanese, Alberto, Girlanda, P., Berardelli, A., Petracca, M., Bentivoglio, A. R. (ORCID:0000-0002-9663-095X), and Albanese, A. (ORCID:0000-0002-5864-0006)

Abstract

The Italian Dystonia Registry is a multicenter data collection system that will prospectively assess the phenomenology and natural history of adult-onset dystonia and will serve as a basis for future etiological, pathophysiological and therapeutic studies. In the first 6 months of activity, 20 movement disorders Italian centres have adhered to the registry and 664 patients have been recruited. Baseline historical information from this cohort provides the first general overview of adult-onset dystonia in Italy. The cohort was characterized by a lower education level than the Italian population, and most patients were employed as artisans, builders, farmers, or unskilled workers. The clinical features of our sample confirmed the peculiar characteristics of adult-onset dystonia, i.e. gender preference, peak age at onset in the sixth decade, predominance of cervical dystonia and blepharospasm over the other focal dystonias, and a tendency to spread to adjacent body parts, The sample also confirmed the association between eye symptoms and blepharospasm, whereas no clear association emerged between extracranial injury and dystonia in a body site. Adult-onset dystonia patients and the Italian population shared similar burden of arterial hypertension, type 2 diabetes, coronary heart disease, dyslipidemia, and hypothyroidism, while hyperthyroidism was more frequent in the dystonia population. Geographic stratification of the study population yielded no major difference in the most clinical and phenomenological features of dystonia. Analysis of baseline information from recruited patients indicates that the Italian Dystonia Registry may be a useful tool to capture the real world clinical practice of physicians that visit dystonia patients.

Published
2017

33. Validation of the Italian version of the Movement Disorder Society-Unified Parkinson's Disease Rating Scale

Author

Antonini, A, Abbruzzese, G, Ferini Strambi, L, Tilley, B, Huang, J, Stebbins, Gt, Goetz, Cg, Barone, P, MDS UPDRS Italian Validation Study Group, Bandettini di Poggio, M, Fabbrini, G, Di Stasio, F, Tinazzi, M, Bovi, T, Ramat, S, Meoni, S, Pezzoli, G, Canesi, M, Martinelli, P, Maria Scaglione CL, Rossi, A, Tambasco, N, Santangelo, G, Picillo, M, Morgante, Letterio, Morgante, Francesca, Quatrale, R, Sensi, M, Pilleri, M, Biundo, R, Nordera, G, Caria, A, Pacchetti, C, Zangaglia, R, Lopiano, L, Zibetti, M, Zappia, M, Nicoletti, A, Quattrone, A, Salsone, M, Cossu, G, Murgia, D, Albanese, A, Del Sorbo, F., Antonini, A, Abbruzzese, G, Ferini Strambi, L, Tilley, B, Huang, J, Stebbins, Gt, Goetz, Cg, Barone, P, MDS UPDRS Italian Validation Study, Group, Bandettini di Poggio, M, Fabbrini, G, Di Stasio, F, Tinazzi, M, Bovi, T, Ramat, S, Meoni, S, Pezzoli, G, Canesi, M, Martinelli, P, Maria Scaglione, Cl, Rossi, A, Tambasco, N, Santangelo, Gabriella, Picillo, M, Morgante, L, Morgante, F, Quatrale, R, Sensi, M, Pilleri, M, Biundo, R, Nordera, G, Caria, A, Pacchetti, C, Zangaglia, R, Lopiano, L, Zibetti, M, Zappia, M, Nicoletti, A, Quattrone, A, Salsone, M, Cossu, G, Murgia, D, Albanese, A, and Del Sorbo, F.

Subjects
Male, Unified Parkinson's Disease Rating Scale, Mds updrs, Parkinson's disease, Unified Parkinson’s Disease Rating Scale, Unified Parkinson's disease rating scale, Dermatology, Neuropsychological Tests, Factor structure, Severity of Illness Index, MDS-UPDRS, rating scale, rating scales, Disability Evaluation, Rating scale, Medical, Humans, Translations, Societies, Medical, Neurologic Examination, Protocol (science), Movement Disorders, Movement (music), Reproducibility of Results, Parkinson Disease, General Medicine, Statistical, Linguistics, Focus (linguistics), Settore MED/26 - NEUROLOGIA, Psychiatry and Mental health, Italy, Index (publishing), Female, Neurology (clinical), Societies, Factor Analysis, Statistical, Psychology, Factor Analysis, Social psychology
Abstract

The Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) has been available in English since 2008. As part of this process, the MDS-UPDRS organizing team developed guidelines for development of official non- English translations. We present here the formal process for completing officially approved non-English versions of the MDS-UPDRS and specifically focus on the first of these versions in Italian. The MDS-UPDRS was translated into Italian and tested in 377 native-Italian speaking PD patients. Confirmatory and exploratory factor analyses determined whether the factor structure for the English- language MDS-UPDRS could be confirmed in data col- lected using the Italian translation. To be designated an 'Official MDS translation,' the Comparative Fit Index (CFI) had to be C0.90 relative to the English-language version. For all four parts of the Italian MDS-UPDRS, the CFI, in comparison with the English-language data, was C0.94. Exploratory factor analyses revealed some differ- ences between the two datasets, however these differences were considered to be within an acceptable range. The Italian version of the MDS-UPDRS reaches the criterion to be designated as an Official Translation and is now avail- able for use. This protocol will serve as outline for further validation of this in multiple languages.

Published
2013
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34. Frontal assessment battery scores and non-motor symptoms in parkinsonian disorders

Author

Marconi, R., Grasso, L., Antonini, A., De Gaspari, D., Barone, P., Santangelo, G., Colosimo, C., Meco, G., Avarello, T. P., Bottacchi, E., Cannas, A., Ceravolo, M. G., Ceravolo, R., Cicarelli, G., Gaglio, R. M., Giglia, L., Iemolo, F., Manfredi, M., Nicoletti, A., Pederzoli, M., Petrone, A., Pisani, A., Pontieri, F. E., Quatrale, R., Ramat, S., Scala, R., Volpe, G., Zappulla, S., Bentivoglio, R., Stocchi, F., Trianni, G., Del Dotto, P., Morgante, F., Morgante, L., Fabbrini, G., Benincasa, D., Sensi, M., Braga, M., Capecci, M., Caravona, N., D'Asta, G., De Falco, F. A., Pezzoli, G., Di Giovanni, M., Floris, G., Gallerini, S., Gurgone, G., Frosini, D., Meoni, S., Savica, R., Moschella, V., Pepe, F., Petretta, V., Randisi, M. G., Romeno, M., Picillo, M., Sorbello, V., Tiple, D., Guidubaldi, A., Muoio, R., Toni, V., Logi, C., Bartalini, S., Ulivelli, M., Perini, M., Lanfranchi, S., Griffini, S., Troianiello, B., Baratti, M., Amidei, S., Consoli, D., Iellamo, M., Cuomo, T., Scaglioni, A., Medici, D., Abbruzzese, G., Di Brigida, G., Cocco, G. A., Agnetti, V., Cossu, G., Deriu, M., Abrignani, M., Modica, C., Albani, G., Pradotto, L., Martinelli, P., Scaglione, C., Mucchiut, M., Zanini, S., Pennisi, F., Soliveri, P., Albanese, A., Bartolomei, L., L'Erario, R., Capus, L., Ferigo, L., Marano, R., Nastasi, V., Luciano, R., Maiello, L., Simone, P., Fogli, D., Lopiano, L., Pesare, M., Nordera, G., Pilleri, E., Scaravilli, T., Giaccaglini, E., Alesi, C., Corbetta, T., Sgarbi, S., Rapisarda, A., Rizzoli, S., Zanoli, L., Manfredi, A., Marconi, R, Antonini, A, Barone, P, Colosimo, C, Avarello, Tp, Bottacchi, E, Cannas, A, Ceravolo, Mg, Ceravolo, R, Cicarelli, G, Gaglio, Rm, Giglia, L, Iemolo, F, Manfredi, M, Meco, G, Nicoletti, A, Pederzoli, M, Petrone, A, Pisani, A, Pontieri, Fe, Quatrale, R, Ramat, S, Scala, R, Volpe, G, Zappulla, S, Bentivoglio, Ar, Stocchi, F, Trianni, G, Del Dotto, P, De Gaspari, D, Grasso, L, Morgante, F, Santangelo, Gabriella, Fabbrini, G, Morgante, L, and PRIAMO study, Group

Subjects
Questionnaires, Lung Diseases, Male, Aged, Aged, 80 and over, Attention Deficit Disorder with Hyperactivity, Cardiovascular Diseases, Cognition Disorders, Fatigue, Female, Frontal Lobe, Gastrointestinal Diseases, Humans, Kidney Diseases, Logistic Models, Longitudinal Studies, Middle Aged, Parkinsonian Disorders, Predictive Value of Tests, Skin Diseases, Sleep Wake Disorders, Surveys and Questionnaires, Neuropsychological Tests, 2708, Neurology (clinical), Psychiatry and Mental Health, Neurology, Disease, Logistic regression, Parkinson and cognitive impairment, 80 and over, Verbal fluency test, Neuroradiology, Sleep Disorders, General Medicine, non-motor symptoms, Psychiatry and Mental health, Settore MED/26 - NEUROLOGIA, Frontal lobe, Predictive value of tests, Psychology, medicine.medical_specialty, Dermatology, behavioral disciplines and activities, Internal medicine, medicine, Psychiatry, Surrogate endpoint, Frontal functions, Non-motor symptoms, frontal functions, parkinson and cognitive impairment
Abstract

Using data from the PRIAMO study, we investigated non-motor symptoms (NMS) versus frontal lobe dysfunction in patients with idiopathic Parkinson disease (PD); 808 patients with PD and 118 with atypical parkinsonisms (AP) were consecutively enrolled at 55 Centers in Italy. Twelve categories of NMS were investigated. Cognitive impairment was defined as a Mini-Mental Status Evaluation score ≤ 23.8 and frontal lobe dysfunction as a Frontal Assessment Battery (FAB) score ≤ 3.48. Multivariable logistic regression was used to identify predictor of frontal lobe dysfunction in 524 PD patients, and a generalized linear model was used for each of the six FAB items. Not only the total FAB scores but also the single FAB items were lower in AP versus PD (p ≤ 0.005). Age (OR = 1.05), cognitive impairment (OR = 9.54), lack of cardiovascular symptoms (OR = 3.25), attention or memory problems (OR = 0.59) and treatment with L: -DOPA (OR = 5.58) were predictors of frontal lobe dysfunction. MMSE was negatively associated with all FAB items (β ≤ -0.16) and age with all FAB items but prehension behavior (β ≤ -0.01). Previous use of L: -DOPA was negatively associated with verbal fluency (β = -0.32) possibly acting as surrogate marker of disease duration. Cognitive impairment is a predictor of frontal lobe dysfunction. Among NMS, lack of attention or memory problems were negatively associated with frontal impairment. Further studies are nonetheless needed to better identify the predictors of frontal impairment in PD patients.

Published
2012

35. Age at onset and symptom spread in primary adult-onset blepharospasm and cervical dystonia

Author

Martino, D, Berardelli, A, Abbruzzese, Giovanni, Bentivoglio, Ar, Esposito, M, Fabbrini, G, Guidubaldi, A, Girlanda, P, Liguori, R, Marinelli, Lucio, Morgante, F, Santoro, L, Defazio, G., Davide, Martino, Alfredo, Berardelli, Giovanni, Abbruzzese, Anna Rita, Bentivoglio, Esposito, Marcello, Giovanni, Fabbrini, Arianna, Guidubaldi, Paolo, Girlanda, Rocco, Liguori, Lucio, Marinelli, Francesca, Morgante, Santoro, Lucio, Giovanni, Defazio, Martino D., Berardelli A., Abbruzzese G., Bentivoglio A.R., Esposito M., Fabbrini G., Guidubaldi A., Girlanda P., Liguori R., Marinelli L., Morgante F., Santoro L., and Defazio G.

Subjects
Male, congenital, hereditary, and neonatal diseases and abnormalities, cervical dystonia, dystonia, epidemiology, movement disorders, neuroepidemiology, clinical neurology, blepharospasm, Middle Aged, Survival Analysis, Statistics, Nonparametric, nervous system diseases, Cohort Studies, Settore MED/26 - NEUROLOGIA, Linear Models, otorhinolaryngologic diseases, Humans, Female, Age of Onset, Torticollis, Aged
Abstract

BACKGROUND: The site of dystonia onset is known to affect the risk of spread in primary adult-onset focal dystonia, but other factors possibly influencing spread are unknown. This study explored the relationship between age and spread of dystonia in primary adult-onset focal dystonia. METHODS: Two survival models analyzed spread of dystonia in a large cohort of patients with primary blepharospasm (BSP) and cervical dystonia. The first model was based on time interval between onset and spread of dystonia, and the second model was based on age at spread. RESULTS: Patients presenting with BSP had a 2-fold higher rate of spread than those presenting with cervical dystonia, regardless of the survival model used. However, survival analysis, based on age at spread, showed that spread develops at a similar age period in both groups, with most spread events occurring after the age of 50. CONCLUSIONS: The convergent age of spread in BSP and cervical dystonia is a novel finding indicating age as a factor modulating spread of dystonia. These findings may assist in informing prognostication for patients with primary adult-onset focal dystonia.

Published
2012

37. GIGYF2 mutations are not a frequent cause of familial Parkinson's disease

Author

Di Fonzo A., Fabrizio E., Thomas A., Fincati E., Marconi R., Tinazzi M., Breedveld G. J., Simons E. J., Chien H. F., Ferreira J. J., Horstink M. W., Abbruzzese G., Borroni B., Cossu G., Dalla Libera A., Fabbrini G., Guidi M., De Mari M., Lopiano L., Martignoni E., Marini P., Onofrj M., Padovani A., Stocchi F., Toni V., Sampaio C., Barbosa E. R., Meco G., Italian Parkinson Genetics Network, Oostra B. A, Bonifati V., MONTAGNA, PASQUALE, Erasmus MC other, Clinical Genetics, Di Fonzo A., Fabrizio E., Thomas A., Fincati E., Marconi R., Tinazzi M., Breedveld G.J., Simons E.J., Chien H.F., Ferreira J.J., Horstink M.W., Abbruzzese G., Borroni B., Cossu G., Dalla Libera A., Fabbrini G., Guidi M., De Mari M., Lopiano L., Martignoni E., Marini P., Onofrj M., Padovani A., Stocchi F., Toni V., Sampaio C., Barbosa E.R., Meco G., Italian Parkinson Genetics Network, Montagna P., Oostra B.A, and Bonifati V.

Subjects
Proband, Adult, Parkinson's disease, PARK11, Locus (genetics), Disease, Biology, Genetics, GIGYF2, Mutation, medicine, Coding region, Humans, parkinson disease, Gene, Aged, Parkinson Disease, Middle Aged, medicine.disease, Pedigree, Neurology, Carrier protein, Neurology (clinical), Geriatrics and Gerontology, Carrier Proteins, genetics, gigyf2, mutation, park11, parkinson's disease
Abstract

Mutations in the Grb10-interacting GYF protein 2 (GIGYF2) gene, within the PARK11 locus, have been nominated as a cause of Parkinson's disease in Italian and French populations. By sequencing the whole GIGYF2 coding region in forty-six probands (thirty-seven Italians) with familial Parkinson's disease compatible with an autosomal dominant inheritance, we identified no mutations. Our data add to a growing body of evidence suggesting that GIGYF2 mutations are not a frequent cause of PD. (C) 2009 Elsevier Ltd. All rights reserved.

Published
2009

38. Pisa Syndrome in Parkinson's disease: demographic and clinical correlations in a multicenter italian study

Author

Geroin, C, Tinazzi, M, Vitale, C, Bombieri, F, Juergenson, I, Smania, N, Schena, F, Ottaviani, S, Bisoffi, G, Mirandola, R, Canesi, M, Pezzoli, G, Ceravolo, R, Mazzucchi, S, 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, Lena, F, Zappia, Mario, Nicoletti, Alessandra, Leocani, L, Volontè, A, Spagnolo, F, Dallocchio, C, Sciarretta, M, Altavilla, T, Abbruzzese, G, Cordano, C, Pacchetti, C, Pozzi, N, Marconi, R, Gallerini, S, Allocca, R, Defazio, G, Morgante, F, Ricciardi, L, Cannas, A, Solla, P, Fasano, A, and Barone, P.

Published
2014

39. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

Author

Di Fonzo, A, Fabrizio, E, Thomas, A, Fincati, E, Marconi, R, Tinazzi, M, Breedveld, Gj, Simons, Ej, Chien, Hf, Ferreira, Jj, Horstink, Mw, Abbruzzese, G, Borroni, B, Cossu, G, Dalla Libera, A, Fabbrini, G, Guidi, M, De Mari, M, Lopiano, L, Martignoni, E, Marini, P, Onofrj, M, Padovani, A, Stocchi, F, Toni, V, Sampaio, C, Barbosa, Er, Meco, G, Antonini, A, Oostra BA, Bonifati V., Di Fonzo A., Chien H.F., Socal M., Giraudo S., Tassorelli C., Illiceto G., Fabbrini G., Marconi R., Fincati E., Abbruzzese G., Marini P., Squitieri F., Horstink M.W., Montagna P., Libera A.D., Stocchi F., Goldwurm S., Ferreira J.J., Meco G., Martignoni E., Lopiano L., Jardim L.B., OOstra B.A., Barbosa E.R., The Italian Parkinson Genetics Network, Bonifati V., Erasmus MC other, and Clinical Genetics

Subjects
Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Genotype, assessment, DNA Mutational Analysis, Mutation, Missense, patients, Central nervous system disease, Cohort Studies, Diagnosis, Differential, Degenerative disease, Parkinsonian Disorders, medicine, Prevalence, Dementia, Missense mutation, Humans, Genetic Predisposition to Disease, young onset Parkinson disease, Genetic Testing, Age of Onset, juvenile parkinsonism, Child, Genetics, business.industry, Parkinsonism, ATP13A2 gene mutations, Brain, Parkinson Disease, Middle Aged, medicine.disease, Young onset Parkinson disease, Proton-Translocating ATPases, Phenotype, Italy, Kufor Rakeb syndrome, Female, Neurology (clinical), business, Brazil
Abstract

To assess the prevalence, nature, and associated phenotypes of ATP13A2 gene mutations among patients with juvenile parkinsonism (onset21 years) or young onset (between 21 and 40 years) Parkinson disease (YOPD).We studied 46 patients, mostly from Italy or Brazil, including 11 with juvenile parkinsonism and 35 with YOPD. Thirty-three cases were sporadic and 13 had positive family history compatible with autosomal recessive inheritance. Forty-two had only parkinsonian signs, while four (all juvenile-onset) had multisystemic involvement. The whole ATP13A2 coding region (29 exons) and exon-intron boundaries were sequenced from genomic DNA.A novel homozygous missense mutation (Gly504Arg) was identified in one sporadic case from Brazil with juvenile parkinsonism. This patient had symptoms onset at age 12, levodopa-responsive severe akinetic-rigid parkinsonism, levodopa-induced motor fluctuations and dyskinesias, severe visual hallucinations, and supranuclear vertical gaze paresis, but no pyramidal deficit nor dementia. Brain CT scan showed moderate diffuse atrophy. Furthermore, two Italian cases with YOPD without atypical features carried a novel missense mutation (Thr12Met, Gly533Arg) in single heterozygous state.We confirm that ATP13A2 homozygous mutations are associated with human parkinsonism, and expand the associated genotypic and clinical spectrum, by describing a homozygous missense mutation in this gene in a patient with a phenotype milder than that initially associated with ATP13A2 mutations (Kufor-Rakeb syndrome). Our data also suggest that ATP13A2 single heterozygous mutations might be etiologically relevant for patients with YOPD and further studies of this gene in Parkinson disease are warranted.

Published
2007

40. Pisa syndrome in Parkinson disease

Author

Tinazzi, M., Fasano, Alfonso, Geroin, C., Morgante, F., Ceravolo, R., Rossi, S., Thomas, A., Fabbrini, G., Bentivoglio, Anna Rita, Tamma, F., Cossu, G., Modugno, N., Zappia, M., Volonte, M. A., 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, 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., Ulivelli, M., Fasano A., Bentivoglio A. (ORCID:0000-0002-9663-095X), Tinazzi, M., Fasano, Alfonso, Geroin, C., Morgante, F., Ceravolo, R., Rossi, S., Thomas, A., Fabbrini, G., Bentivoglio, Anna Rita, Tamma, F., Cossu, G., Modugno, N., Zappia, M., Volonte, M. A., 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, 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., Ulivelli, M., Fasano A., and Bentivoglio A. (ORCID:0000-0002-9663-095X)

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 associatedmedical conditions in patients with PS. Multiple explanatory variable logistic regression models confirmed the association of PSwith 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.

Published
2015

41. Novel parkin mutations detected in patients with early-onset Parkinson's disease

Author

Bertoli Avella A. M., Giroud Benitez J. L., Akyol A., Barbosa E., Schaap O., van der Linde H. C., Martignoni E., Lopiano L., Lamberti P., Fincati E., Antonini A., Stocchi F., Squitieri F., Marini P., Abbruzzese G., Fabbrini G., Marconi R., Dalla Libera A., Trianni G., Guidi M., De Gaetano A., Boff Maegawa G., De Leo A., Gallai V., de Rosa G., Vanacore N., Meco G., Van Duijn C. M., Oostra B. A., Heutink P., Bonifati V., Italian Parkinson Genetics Network, MONTAGNA, PASQUALE, Biological Psychology, Clinical Genetics, Epidemiology, Bertoli-Avella A.M., Giroud-Benitez J.L., Akyol A., Barbosa E., Schaap O., van der Linde H.C., Martignoni E., Lopiano L., Lamberti P., Fincati E., Antonini A., Stocchi F., Montagna P., Squitieri F., Marini P., Abbruzzese G., Fabbrini G., Marconi R., Dalla Libera A., Trianni G., Guidi M., De Gaetano A., Boff Maegawa G., De Leo A., Gallai V., de Rosa G., Vanacore N., Meco G., Van Duijn C.M., Oostra B.A., Heutink P., Bonifati V., and Italian Parkinson Genetics Network.

Subjects
Adult, Male, Adolescent, Genotype, Cost-Benefit Analysis, Ubiquitin-Protein Ligases, Protein Deglycase DJ-1, medicine.disease_cause, Polymerase Chain Reaction, Parkin, Exon, SDG 3 - Good Health and Well-being, medicine, Humans, Mass Screening, Point Mutation, Allele, Age of Onset, Mass screening, Aged, Gene Library, Genetics, Oncogene Proteins, Mutation, business.industry, Point mutation, Intracellular Signaling Peptides and Proteins, Parkinson Disease, Exons, Middle Aged, nervous system diseases, Phenotype, Neurology, Female, Neurology (clinical), Age of onset, business, Protein Kinases
Abstract

A multiethnic series of patients with early-onset Parkinson's disease (EOP) was studied to assess the frequency and nature of parkin/PARK2 gene mutations and to investigate phenotype-genotype relationships. Forty-six EOP probands with an onset age of G, and exon 8-9-10 deletion. Homozygous mutations, two heterozygous mutations, and a single heterozygous mutation were found in 8, 6, and 1 patient, respectively. Heterozygous exon deletions represented 28% of the mutant alleles. The patients with parkin mutations showed significantly earlier onset, longer disease duration, more frequently symmetric onset, and slower disease progression than the patients without mutations, in agreement with previous studies. This study confirms the frequent involvement of parkin and the importance of genetic testing in the diagnostic work-up of EOP. © 2004 Movement Disorder Society.

Published
2004
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42. Validation of the Italian version of Parkinson's disease-cognitive rating scale (PD-CRS)

Author

Santangelo, G., Barone, P., Abbruzzese, G., Ferini Strambi, L., Antonini, A, Bandettini, M., Fabbrini, G., Di Stasio, F., Tinazzi, M., Bovi, T., Ramat, S., Meoni, S., Pezzoli, G., Siri, C., Canesi, M., Martinelli, P., Scaglione, C. L., Rossi, A., Tambasco, N., Picillo, M., Morgante, Letterio, Morgante, Francesca, Quatrale, R., Sensi, M. C., Pilleri, M., Biundo, R., Nordera, G., Caria, A., Pacchetti, C., Zangaglia, R., Lopiano, L., Zibetti, M., Morgante, L., Morgante, F., Zappia, M., Nicoletti, A., Quattrone, A., Salsone, M., Cossu, G., Murgia, D., Albanese, A., Del Sorbo, F., Santangelo, Gabriella, Barone, Paolo, Abbruzzese, Giovanni, Ferini-strambi, Luigi, and Antonini, Angelo

Subjects
Male, medicine.medical_specialty, Parkinson's disease, Neurology, Dermatology, Audiology, Neuropsychological Tests, Cognition Disorder, Cognitive dysfunction, Rating scale, medicine, Dementia, Humans, Cognitive dysfunctions, Mild cognitive impairment, Parkinson's Disease Cognitive Rating Scale (PD-CRS), Aged, Cognition Disorders, Female, Italy, Middle Aged, Parkinson Disease, Neurology (clinical), Psychiatry and Mental Health, 2708, Psychiatry, Working memory, Cognition, General Medicine, medicine.disease, Confidence interval, Psychiatry and Mental health, Ceiling effect, Neuropsychological Test, Psychology, Human
Abstract

Cognitive impairment (CI) is a frequent feature associated with both early and advanced stages of Parkinson's disease (PD). An evaluation of cognitive functions is relevant to identify those parkinsonians at risk of developing dementia. In the present study, the Italian version of Parkinson's Disease-Cognitive Rating Scale (PD-CRS) assessing fronto-subcortical and cortical cognitive functions in PD was validated in 387 parkinsonians and was used to test the empirical validity of the item 1.1 (cognitive impairment) of the Italian version of MDS-UPDRS as screening tool for CI in PD. PD-CRS was free from floor and ceiling effect. The mean PD-CRS score was 76.1 (mean cortical score, 24.5 ± 4.6; mean subcortical score, 51.5 ± 17.5). The internal consistency was satisfactory (α = 0.89); corrected item-total correlation was 0.570 (naming) to 0.696 (working memory). The correlation between PD-CRS and part I-IV of MDS-UPDRS was weak. The low agreement between classification of PD sample into patients with mild cognitive impairment (PD-MCI), dementia (PD-D) and normal cognition (PD-NC) according to scores of item 1.1 and classification according to cutoff scores of PD-CRS for PD-MCI, PD-D and PD-NC indicated a poor empirical validity of item 1.1 of MDS-UPDRS as cognitive screening tool for CI in PD (Κ = 0.114; weighted Κ = 0.17; SE of Κ = 0.038; 95 % confidence interval from 0.040 to 0.1895). The Italian version of PD-CRS is an easy, consistent and valid tool for assessment of the cognitive cortical and subcortical impairments in PD. © 2013 Springer-Verlag.

Published
2013

43. Pisa syndrome in parkinson’s disease: demographic and clinical correlations in a multi center italian study

Author

Tinazzi, M, Juergenson, I, Bombieri, F, Schena, F, Ottaviani, S, Bovi, T, Bisoffi, G, Uniati, C, Canesi, M, Pezzoli, G, Ceravolo, R, Frosini, D, Rossi, S, Ulivelli, M, Thomas, A, Di Giacomo, R, Fabbrini, G, Sachioto, M, Bentivoglio, A, Bove, F, Tamma, F, Lucchese, V, Cossu, G, Di Stefano, F, Pisani, A, Amadeo, G, Modugmo, N, Lena, F, Zappia, Mario, Raciti, L, Nicoletti, Alessandra, Volontè, M, Spagnolo, F, Dallocchio, C, Sciarretta, M, Altavilla, T, Abbruzzese, G, Cordano, C, Pacchetti, C, Pozzi, N, Marconi, R, Gallerini, S, Mignarri, A, Allocca, R, Defazio, G, Morgante, F, Ricciardi, L, Cannas, A, Solla, P, Vitale, C, Fasano, A, and Barone, P.

Published
2013

44. Diagnostic agreement in patients with psychogenic movement disorders

Author

Morgante, F, Edwards, Mj, Espay, Aj, Fasano, A, Mir, P, Martino, D, Bovi, Tommaso, Tinazzi, Michele, Cossu, G, Murgia, D, Modugno, N, Pellecchia, Mt, Rizzo, G, Scaglione, C, Martinelli, P, Fabbrini, G, Berardelli, A, Arabia, G, Nicoletti, G, Avanzino, L, Marinelli, L, Abbruzzese, G, Boero, G, Cantalupo, Gaetano, Cilia, R, Claudia, Dell'Aquila, Iliceto, G, Tortorella, C, Defazio, G, Di Leo, R, Girlanda, P, Elia, A, Petracca, M, Luigetti, M, and Zappia, M.

Subjects
Adult, Male, psychogenic movement disorders, diagnostic criteria, interobserver agreement, epidemiology, phenomenology, facial distortion, Severity of Illness Index, facial movement disorders, Article, Young Adult, Humans, psychogenic dystonia, psychogenic blepharospasm, Aged, Neurologic Examination, Psychiatric Status Rating Scales, Movement Disorders, Reproducibility of Results, Middle Aged, Psychophysiologic Disorders, psychogenic facial movement disorders, Neurology, Female, facial movement disorders, psychogenic movement disorders, psychogenic facial movement disorders, psychogenic dystonia, psychogenic blepharospasm, facial distortion
Abstract

The reliability and applicability of published diagnostic criteria for psychogenic movement disorders (PMDs) have never been examined.Eight movement disorder and six general neurologists rated 14 patients diagnosed with PMD and 14 patients diagnosed with organic movement disorders. Raters provided a dichotomous judgment (i.e., psychogenic or organic) upon review of video-based movement phenomenology and a category of diagnostic certainty based on the Fahn-Williams and Shill-Gerber criteria after accessing standardized clinical information. We measured interobserver agreement on the diagnosis and clinical certainty judgment of PMD.In both groups of raters, agreements were "fair" on the video-based dichotomous judgment, but improved to "substantial" after access to standardized clinical information. "Slight" to "poor" agreement was reached for the "probable" and "possible" categories of diagnostic certainty corresponding to both diagnostic criteria.Diagnosis according to clinical available criteria for PMD yields poor diagnostic agreement.

Published
2012

46. Diagnostic agreement in psychogenic movement disorders

Author

Morgante, F, Bovi, T, Fasano, A, Pellecchia, M, Rizzo, G, Scaglione, C, Cossu, G, Modugno, N, Arabia, G, Avanzino, L, Ciclia, R, Dell'Aquila, C, Elia, A, Marinelli, L, Abbruzzese, G, Berardelli, A, Defazio, G, Fabbrini, G, Girlanda, P, Iliceto, G, Martinelli, P, Nicoletti, G, Tinazzi, M, Zappia, Mario, Boero, G, Cantalupo, G, DI LEO, R, Luigetti, M, Tortora, C, Edwards, M, Espay, A, Mir, P, and Martino, D.

Published
2010

48. Non-motor symptoms in atypical and secondary parkinsonism: the PRIAMO study

Author

Colosimo, C, Morgante, L, Antonini, A, Barone, P, Avarello, Tp, Bottacchi, E, Cannas, A, Ceravolo, Mg, Ceravolo, R, Cicarelli, G, Gaglio, Rm, Giglia, L, Iemolo, F, Manfredi, M, Meco, G, Nicoletti, A, Pederzoli, M, Petrone, A, Pisani, A, Pontieri, Fe, Quatrale, R, Ramat, S, Scala, R, Volpe, G, Zappulla, S, Bentivoglio, Ar, Stocchi, F, Trianni, G, Del Dotto, P, Simoni, L, Marconi, R, Priamo, Sg, Benincasa, D, Biguzzi, S, Braga, M, Capecci, M, Caravona, N, D'Asta, G, De Falco, Fa, De Gaspari, D, Pezzoli, G, Di Giovanni, M, Floris, G, Gallerini, S, Grasso, L, Gurgone, G, Kiferle, L, Meoni, S, Morgante, F, Savica, R, Moschella, V, Pepe, F, Petretta, V, Randisi, Mg, Romeno, M, Santangelo, G, Ianniciell, M, Sorbello, V, Fabbrini, G, Berardelli, A, Guidubaldi, A, Muoio, R, Toni, V, Logi, C, Ciacci, G, Ulivelli, M, Perini, M, Lanfranchi, S, Griffini, S, Troianiello, B, Baratti, M, Amidei, S, Consoli, D, Iellamo, M, Cuomo, T, Scaglioni, A, Medici, D, Abbruzzese, Giovanni, Di Brigida, G, Cocco, Ga, Agnetti, V, Cossu, G, Deriu, M, Abrignani, M, Modica, C, Albani, G, Milan, E, Martinelli, P, Scaglione, C, Mucchiut, M, Zanini, S, Pennisi, F, Soliveri, P, Albanese, A, Bartolomei, L, L'Erario, R, Capus, L, Ferigo, L, Marano, R, Nastasi, V, Luciano, R, Maiello, L, Simone, P, Fogli, D, Lopiano, L, Pesare, M, Nordera, G, Pilleri, E, Scaravilli, T, Giaccaglini, E, Alesi, C, Corbetta, T, Dumitriu, A, Sgarbi, S, Rapisarda, A, Rizzoli, S, Zanoli, L, Manfredi, A., Colosimo C., Morgante L., Antonini A., Barone P., Avarello T.P., Bpttacchi E., Cannas A., Ceravolo M.G., Ceravolo R., Cicarelli G., Gaglio R.M., Giglia L., Iemolo F., Manfredi M., Meco G., Nicoletti A., Pederzoli M., Petrone A., Pisani A., Pontieri FE., Quatrale r., Ramat S., Scala R., Volpe G., Zappulla S., Bentivoglio A.R., Stocchi F., Trianni G., Del Dotto P., Simoni L., Marconi R., PRIAMO STUDY GROUP [.., Martinelli P., ], Colosimo, C, Morgante, L, Antonini, A, Barone, Paolo, Avarello, Tp, Bottacchi, E, Cannas, A, Ceravolo, Mg, Ceravolo, R, Cicarelli, G, Gaglio, Rm, Giglia, L, Iemolo, F, Manfredi, M, Meco, G, Nicoletti, A, Pederzoli, M, Petrone, A, Pisani, A, Pontieri, Fe, Quatrale, R, Ramat, S, Scala, R, Volpe, G, Zappulla, S, Bentivoglio, Ar, Stocchi, F, Trianni, G, Del Dotto, P, Simoni, L, Marconi, R, and PRIAMO STUDY, G. R. O. U. P.

Subjects
Male, Secondary, Neurology, secondary parkinsonism, parkinson and cognitive impairment, Neurological disorder, PRIAMO STUDY, Orthostatic vital signs, Prevalence, Corticobasal degeneration, Supranuclear Palsy, Longitudinal Studies, Parkinsonism, Cognitive disorder, Parkinson Disease, Neurodegenerative Diseases, Middle Aged, non-motor symptoms, atypical parkinsonism, Italy, Atypical parkinsonism, Non-motor symptoms, Parkinson and cognitive impairment, Secondary parkinsonism, epidemiology, Settore MED/26 - Neurologia, Female, Supranuclear Palsy, Progressive, Lewy Body Disease, medicine.medical_specialty, Humans, Aged, Parkinson Disease, Secondary, Cross-Sectional Studies, Multiple System Atrophy, Parkinsonian Disorders, Atypical parkinsonism, Non-motor symptoms, Parkinson and cognitive impairment, Secondary parkinsonism, Neurology (clinical), Aged, Cross-Sectional Studies, Female, Humans, Italy, epidemiology, Lewy Body Disease, epidemiology, Longitudinal Studies, Male, Middle Aged, Multiple System Atrophy, epidemiology, Neurodegenerative Diseases, epidemiology, Parkinson Disease, epidemiology, Parkinsonian Disorders, epidemiology, Prevalence, Supranuclear Palsy, Progressive, Progressive supranuclear palsy, Internal medicine, mental disorders, medicine, Dementia with Lewy bodies, business.industry, medicine.disease, nervous system diseases, Physical therapy, business, PARKINSONISM
Abstract

The PRIAMO study is a cross-sectional longitudinal observational study aimed at describing epidemiology and evolution of non-motor symptoms (NMS) in patients with different forms of parkinsonism recruited in 55 Italian centres and evaluated over 24 months. In this paper, we are reporting prevalence and clinical characteristics of NMS in patients with atypical and secondary parkinsonism. Out of 1307 consecutive patients with a diagnosis of parkinsonism, 83 patients had vascular parkinsonism (VP), 34 had multiple system atrophy (MSA), 30 had progressive supranuclear palsy (PSP), 14 had dementia with Lewy bodies (DLB) and 11 had corticobasal degeneration (CBD). MSA and DLB had the highest number of NMS domains and symptoms, respectively. Gastrointestinal symptoms, pain, urinary problems and postural instability due to orthostatic hypotension were most frequent in MSA. Sleep disturbances were also common with a prevalence of approximately 70% in all diagnostic groups but CBD (36%). Psychiatric symptoms and attention and memory impairment were frequently observed in all diagnoses but were most prevalent among DLB patients, whereas the prevalence of skin and respiratory disorders was rather low in all forms, ranging between 10 and 30%. Atypical parkinsonism patients also reported a low QoL, with no significant differences among the different forms, whereas PD and VP patients had a better QoL.

Published
2009

49. A novel family with un unusual early onset generalized distonia

Author

Fabbrini, G, Brancati, F, Vacca, L, Valente, Enza Maria, Nemeth, A, Meesaq, A, Sykes, N, Dallapiccola, B, and Berardelli, A.

Subjects
Adult, Aged, 80 and over, Family Health, Male, congenital, hereditary, and neonatal diseases and abnormalities, Parkinson Disease, Sequence Analysis, DNA, nervous system diseases, Dystonia, Haplotypes, Italy, otorhinolaryngologic diseases, Humans, Female, Aged
Abstract

We report on an Italian family in which three brothers and their maternal grandfather had a generalized early-onset dystonia with mild parkinsonian signs. Genetic testing excluded the rapid-onset dystonia-parkinsonism locus (DYT12; OMIM*128235), autosomal recessive Parkin locus (PARK2; OMIM *602544), and DYT1 dystonia. Three affected siblings were found to share an identical haplotype at the X-linked dystonia-parkinsonism locus (XDP; Lubag; OMIM*314250). This haplotype differed from the haplotype observed in Filipino patients, ruling out the hypothesis of a common underlying mutation. In addition, direct sequencing analysis of the putative disease causing changes observed in Filipino patients were not found in the Italian patients. The condition we describe could be a newly recognized dystonia syndrome with parkinsonism.

Published
2005

50. Pramipexole in Parkinson's disease. A short-term study using the combined levodopa-dopamine agonist test

Author

Fabbrini G, Barbanti P, Aurilia C, Caterina Pauletti, and Meco G

Subjects
Male, Receptors, Dopamine D2, Movement, Receptors, Dopamine D3, Parkinson Disease, Antiparkinson Agents, Levodopa, Benserazide, Thiazoles, Pramipexole, Dopamine Agonists, Humans, Drug Therapy, Combination, Female, Benzothiazoles, dopamine agonists, levodopa, parkinson's disease, pramipexole, Aged
Abstract

The aim of our study was to investigate the efficacy of pramipexole in advanced parkinsonian patients by means of an acute stimulation test. We studied the motor effects of pramipexole in fluctuating parkinsonian patients by comparing the response to acute levodopa with the response to levodopa + pramipexole. The adjunct of pramipexole to levodopa increased the time spent on from 136 +/- 22.3 to 186 +/- 20.6 minutes (p0.01), while it did not change the latency to on, the magnitude of the motor improvement, or the duration and severity of dyskinesias. The main effect of pramipexole in fluctuating parkinsonian patients is an increased duration of the on phase.

Published
2003

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