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1. Gender differences in microRNA expression in levodopa-naive PD patients

Author

Vallelunga, A., Iannitti, T., Somma, G., Russillo, M. C., Picillo, M., De Micco, R., Vacca, L., Cilia, R., Cicero, C. E., Zangaglia, R., Lazzeri, G., Galantucci, S., Radicati, F. G., De Rosa, A., Amboni, M., Scaglione, C., Tessitore, A., Stocchi, F., Eleopra, R., Nicoletti, A., Pacchetti, C., Di Fonzo, A., Volontè, M. A., Barone, P., and Pellecchia, M. T.

Published
2023
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2. Correction to: Gender differences in microRNA expression in levodopa‑naive PD patients

Author

Vallelunga, A., Iannitti, T., Somma, G., Russillo, M. C., Picillo, M., De Micco, R., Vacca, L., Cilia, R., Cicero, C. E., Zangaglia, R., Lazzeri, G., Galantucci, S., Radicati, F. G., De Rosa, A., Amboni, M., Scaglione, C., Tessitore, A., Stocchi, F., Eleopra, R., Nicoletti, A., Pacchetti, C., Di Fonzo, A., Volontè, M. A., Barone, P., and Pellecchia, M. T.

Published
2023
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5. Consensus on the treatment of dysphagia in Parkinson's disease

Author

Schindler, A., Pizzorni, N., Cereda, E., Cosentino, G., Avenali, M., Montomoli, C., Abbruzzese, G., Antonini, A., Barbiera, F., Benazzo, M., Benarroch, E., Bertino, G., Clave, P., Cortelli, P., Eleopra, R., Ferrari, C., Hamdy, S., Huckabee, M. -L., Lopiano, L., Marchese-Ragona, R., Masiero, S., Michou, E., Occhini, A., Pacchetti, C., Pfeiffer, R. F., Restivo, D. A., Rondanelli, M., Ruoppolo, G., Sandrini, G., Schapira, A., Stocchi, F., Tolosa, E., Valentino, F., Zamboni, M., Zangaglia, R., Zappia, M., Tassorelli, C., Alfonsi, E., Schindler A., Pizzorni N., Cereda E., Cosentino G., Avenali M., Montomoli C., Abbruzzese G., Antonini A., Barbiera F., Benazzo M., Benarroch E., Bertino G., Clave P., Cortelli P., Eleopra R., Ferrari C., Hamdy S., Huckabee M.-L., Lopiano L., Marchese-Ragona R., Masiero S., Michou E., Occhini A., Pacchetti C., Pfeiffer R.F., Restivo D.A., Rondanelli M., Ruoppolo G., Sandrini G., Schapira A., Stocchi F., Tolosa E., Valentino F., Zamboni M., Zangaglia R., Zappia M., Tassorelli C., and Alfonsi E.

Subjects
Consensus, Parkinson's disease, Clinical Neurology, Consensu, Consensus development conference, Deglutition disorders, Nutrition, Rehabilitation, Humans, Italy, Deglutition Disorders, Parkinson Disease, QUALITY-OF-LIFE, INTENSIVE VOICE TREATMENT, otorhinolaryngologic diseases, Deglutition Disorder, NEUROMUSCULAR ELECTRICAL-STIMULATION, Science & Technology, SUBTHALAMIC NUCLEUS, ESPEN GUIDELINES, Neurosciences, PULMONARY-FUNCTION, TREATMENT LSVT(R), OROPHARYNGEAL DYSPHAGIA, SWALLOWING DISORDERS, Neurosciences & Neurology, DEEP-BRAIN-STIMULATION, Life Sciences & Biomedicine, Human
Abstract

BACKGROUND: Dysphagia is common in Parkinson's disease (PD). The effects of antiparkinsonian drugs on dysphagia are controversial. Several treatments for dysphagia are available but there is no consensus on their efficacy in PD. OBJECTIVE: To conduct a systematic review of the literature and to define consensus statements on the treatment of dysphagia in PD and related nutritional management. METHODS: A multinational group of experts in the field of neurogenic dysphagia and/or Parkinson's disease conducted a systematic evaluation of the literature and reported the results according to PRISMA guidelines. The evidence from the retrieved studies was analyzed and discussed in a consensus conference organized in Pavia, Italy, and the consensus statements were drafted. The final version of statements was subsequently achieved by e-mail consensus. RESULTS: The literature review retrieved 64 papers on treatment and nutrition of patients with PD and dysphagia, mainly of Class IV quality. Based on the literature and expert opinion in cases where the evidence was limited or lacking, 26 statements were developed. CONCLUSIONS: The statements developed by the Consensus panel provide a guidance for a multi-disciplinary treatment of dysphagia in patients with PD, involving neurologists, otorhinolaryngologists, gastroenterologists, phoniatricians, speech-language pathologists, dieticians, and clinical nutritionists. ispartof: JOURNAL OF THE NEUROLOGICAL SCIENCES vol:430 ispartof: location:Netherlands status: published

Published
2021

8. 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

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

Author

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

Published
2014

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

19. The Use of Technology-Enabled Care (TEC) in Patients with Parkinson's Disease: An Italian Survey

Author

Di Nuzzo, C, Ferrucci, R, Bertolasi, L, Lo Piano, L, Modugno, N, Onofrj, M, Pacchetti, C, Stocchi, F, Tamma, F, Marceglia, S, Mancini, F, Priori, A, Movement Disorders Society, Di Nuzzo, C, Ferrucci, R, Bertolasi, L, Lo Piano, L, Modugno, N, Onofrj, M, Pacchetti, C, Stocchi, F, Tamma, F, Marceglia, S, Mancini, F, and Priori, A

Subjects
Parkinson's disease, technology, mobile health
Abstract

Objective. The present survey aims to explore the use and need of connected health or technology-enabled care (TEC) in patients with Parkinson's disease (PD) in Italy. Background. TEC includes telecare, telehealth, telemedicine, Mobile Health and technological tools, and it is increasingly believed to contribute to achieve the challenges of health, social care, and wellness, and to enable more effective integration of care. Currently, few TEC tools specifically developed for PD symptoms are available and most of these are still prototype. However, TEC is being recognized as a valuable option to improve quality of life in patients with PD [1, 2]. Methods. 142 PD patients (90 males; aged 31-90 years; education 5-17 years) answered to a specifically developed multiple-choices questionnaire composed by 36 items concerning medical history and daily use of TEC (medical devices, health applications, and hardware including mobile diagnostics, remote monitoring devices, wearables and tools). Results. Overall PD patients are very interested in technological tools: 81.7% of patients consider technologies useful for managing PD, 58% would use technologies to communicate with physicians, 53% for daily reminder of drug schedule, 56% to practice physical training and 60% for cognitive exercises. In contrast, the real use of technologies specifically targeting the symptoms and dysfunctions of the disease by PD patients is remarkably rare: for instance, 14.8% of patients used videogames, 5.6% wearable sensors, 1.4% virtual reality, 7.7% cognitive applications, 1.4% self-stabilizing pen, 0% self-stabilizing spoon). Conclusion. Though Italian PD patients are strongly interested in technologies specifically developed for PD, a real knowledge of their potential utility and their real use are still uncommon. The education of PD patients to the use of technological tools can therefore further improve the efficacy of conventional treatments and reduce the cost for the national health systems related to PD.

Published
2018

24. A multicenter Italian randomised study on early treatment of Parkinson disease: comparison of 1-dopa, 1-deprenyl and dopaminoagonists. Study design and short term results

Author

Caraceni T., Musicco M., Gasparini M., Beghi E., Scigliano G., Carella F., Cossutta E., Chiaro C., Lovicu G., Giminiani G., Currado I., Solari, A., Nicolosi A., Agnoli A., Nappi G., Giuliani G., Angeleri A., Moro G., Franciosi A., De Mari M., Lamberti P., Huber R., Coppola G., Trianni G., Onofri M., Curatola L., Paolino E., Casetta I., Scaglioni P., Caffarra P., Marini P., Vanni P., Genitrini S., Sterzi R., Ferrarini M., Bassi P., Contri P., Comi G. C., Comola M., Campanella G., De Michele G., Pacchetti C., Martignoni E., Piccirilli M., Finali G., Massetani R., Galli R., Albanese A., Bentivoglio A., Scoppetta C., Peppe A., Stanzione P., Semprini R., Rossi F., Castellano A., Marconi R., Fincati E., Tomelleri G., Nardelli E., Nordera G., Iemolo F., D'Asta G., Lorizio A., Salsa F., Freschi R., Meregalli S., Bandinelli S., Gangemi S., Capus L., Piola P., Bino G., Achille P., Pederzoli M., Lenzi G. L., and The Italian Parkinson Study Group

Published
1992
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27. 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

28. 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

29. 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

30. Pisa syndrome in Parkinson disease

Author

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

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

35. 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

36. 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., and Ulivelli, M.

Subjects
Male, Parkinson Disease, Syndrome, Middle Aged, Cohort Studies, Levodopa, Dystonia, Settore MED/26 - NEUROLOGIA, Cross-Sectional Studies, Italy, Dopamine Agonists, Humans, Female, Aged
Published
2015

38. Cognitive disorders in normal pressure hydrocephalus with initial parkinsonism in comparison with de novo Parkinson's disease.

Author

Picascia, M., Pozzi, N. G., Todisco, M., Minafra, B., Sinforiani, E., Zangaglia, R., Ceravolo, R., and Pacchetti, C.

Subjects
PARKINSON'S disease, MOVEMENT disorders, COGNITION disorders, PARKINSON'S disease diagnosis, NEUROPSYCHOLOGICAL tests
Abstract

Background and purpose: The clinical differentiation between parkinsonism in idiopathic normal pressure hydrocephalus (iNPH) and Parkinson's disease (PD) remains challenging in the initial phase. Whether an early cognitive profiling might support the differential diagnosis of early iNPH and PD was addressed. Methods: Neuropsychological tests of 40 iNPH subjects with early symptoms resembling parkinsonism were retrospectively evaluated together with 47 de novoPD patients (dnPD). Only neuropsychological tests performed within 1 year from the first motor symptom were included. The cognitive spectrum of iNPH and dnPD was also compared with a sample of 70 normal controls. Results: A clear difference in the cognitive profile of iNPH, dnPD patients and normal controls was shown. 65% of iNPH subjects showed a diffuse cognitive impairment, including memory, visuospatial abilities, fronto‐executive functioning and attention, whereas only 25.5% of the dnPD patients presented an executive dysfunction. 35% of iNPH and 74.5% of PD patients performed within the normal range (P < 0.05). Conclusion: Subjects with iNPH showed an early and diffuse alteration of cognition with respect to dnPD patients. Performing a prompt and accurate neuropsychological evaluation might support the differential diagnosis of these two conditions of parkinsonism. [ABSTRACT FROM AUTHOR]

Published
2019
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39. ANODAL TRANSCRANIAL DIRECT CURRENT STIMULATION (TDCS) APPLIED TO THE MOTOR CORTEX AMELIORATES FREEZING OF GAIT IN PATIENTS AFFECTED BY PARKINSON’S DISEASE

Author

VALENTINO, Francesca, COSENTINO, Giuseppe, BRIGHINA, Filippo, FIERRO, Brigida, SAVETTIERI, Giovanni, D'AMELIO, Marco, Pozzi, NG, Minafra, B, Fresia, M, Bertaina, I, Faulisi, Fabiana, Sandrini, G, Priori, A, Pacchetti, C., Valentino, F, Pozzi, NG, Cosentino, G, Brighina, F, Minafra, B, Fresia, M, Bertaina, I, Faulisi, F, Sandrini, G, Fierro, B, Priori, A, Savettieri, G, D'Amelio, M, and Pacchetti, C

Subjects
Settore MED/26 - Neurologia, Freezing of gait, Parkinsons'disease
Abstract

Background: Progression of Parkinson’s disease (PD) is frequently characterized by the occurrence of freezing of gait (FOG), which generally does not improve with dopaminergic therapy and with current available surgical therapies. Recent evidences show that motor symptoms may be ameliorated by means of non-invasive brain stimulation techiniques in PD (transcranial current direct stimulation, TDCS; repetitive transcranial magnetic stimulation, RTMS). Objective: To investigate the efficacy of anodal TDCS in the treatment of FOG in PD. Excitatory anodal tDCS was applied unilaterally to the motor and premotor cortices controlateral to the most affected leg. Methods: randomized, double-blind, sham-controlled study. TDCS was applied consecutively for 5 days to 8 patients who were randomly assigned to anodal or sham TDCS. Efficacy of the interventions was investigated after the 1st, the 5th stimulation, 1 week, 2 weeks and 1 month after the start of the trial. Clinical assessment was performed by Stand Walk Sit test (SWS), UPDRS, Freezing of Gait Questionnaire (FOG-Q), Gait and Falls Questionnaire (GFQ), and the Parkinson's Disease Questionnaire (PDQ-39). 5 patients also underwent gait analysis. All patients received stimulation when “on” medication. Results: anodal TDCS compared to the sham significantly improved gait and FOG starting from the first stimulation. The effect was evident up to 1 month from the first treatment. Conclusion: Anodal TDCS of the motor and premotor cortex is safe and it may have therapeutic potential for FOG in patients with PD. TDCS might determine release of dopamine in the caudate and putamen. Alternatively excitation of the less active motor cortex may restore an inter-hemispheric balance, as it has been recently hypothesized as possible mechanism at the origin of FOG.

Published
2012

40. Pisa syndrome in Parkinson's disease: demographic and clinical correlations in an Italian Multicenter study

Author

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

Published
2014

41. 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

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. [¹²³I]FP-CIT single photon emission computed tomography findings in drug-induced Parkinsonism

Author

Tinazzi, M, Cipriani, A, Matinella, A, Cannas, A, Solla, P, Nicoletti, A, Zappia, M, Morgante, L, Morgante, F, Pacchetti, C, Sciarretta, M, Dallocchio, C, Rossi, S, Malentacchi, M, Ceravolo, R, Frosini, D, Sestini, S, Bovi, T, and Barbui, C

Abstract

Drug-induced parkinsonism (DIP) in patients treated with antipsychotic drugs is considered a form of post-synaptic parkinsonism, caused by D2-receptor blockade. Recent studies, however, carried out on small and heterogeneous patient samples, have shown that DIP may be associated with [(123)I]FP-CIT single photon emission computed tomography (SPECT) abnormalities, which are markers of dopamine nigrostriatal terminal defect. In the present study, outpatients fulfilling the DSM-IV criteria for schizophrenia and treated with antipsychotics for at least 6 months, were enrolled in order to estimate the prevalence of DIP and, among patients with DIP, the prevalence of [(123)I]FP-CIT SPECT abnormalities. Socio-demographic and clinical variables associated with the presence of DIP and SPECT abnormalities were also assessed. DIP was diagnosed in 149 out of 448 patients with schizophrenia (33%). Age, use of long-acting antipsychotics and a positive family history of parkinsonism were the only demographic variables significantly associated with the development of DIP. Neuroimaging abnormalities were found in 41 of 97 patients who agreed to undergo [(123)I]FP-CIT SPECT (42%). Only age differentiated this group of patients from those with normal imaging. These preliminary findings suggest that D2-receptor blockade may coexist with a dopamine nigrostriatal terminal defect, as assessed by [(123)I]FP-CIT SPECT abnormalities, in a relevant proportion of DIP patients. Longitudinal studies should be designed with the aim of improving our understanding of the mechanisms of pre-synaptic abnormalities in DIP patients and identifying specific treatment strategies.

Published
2012

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