82 results on '"Avenali M"'
Search Results
2. Are there gender differences between subthalamic or globus pallidus internus DBS in Parkinson’s disease? Results from a single center
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Belluscio, G., primary, Malaspina, S., additional, Avenali, M., additional, Cosentino, G., additional, Pacchetti, C., additional, Zangaglia, R., additional, and Valentino, F., additional
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- 2024
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3. Does Deep Brain Stimulation worsen cognitive decline in GBA-Parkinson Disease patients? A longitudinal study of the Italian PARKNET cohort
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AVENALI, M., primary, Artusi, C.A., additional, Cilia, R., additional, Giannini, G., additional, Cuconato, G., additional, Pasquini, C., additional, Albanese, A., additional, Antonini, A., additional, Bentivoglio, A.R., additional, Bove, F., additional, Bozzali, M., additional, Calandra-Buonaura, G., additional, Carelli, V., additional, Francesco, C., additional, Cocco, A., additional, Cogiamanian, F., additional, Colucci, F., additional, Cortelli, P., additional, Di Fonzo, A., additional, D'Onofrio, V., additional, Eleopra, R., additional, Elia, A.E., additional, Fioravanti, V., additional, Golfrè Andreasi, N., additional, Guerra, A., additional, Ledda, C., additional, Liccari, M., additional, Longo, C., additional, Lopiano, L., additional, Malaguti, M., additional, Mameli, F., additional, Minardi, R., additional, Monfrini, E., additional, Pacchetti, C., additional, Piano, C., additional, Rizzone, M., additional, Romito, L., additional, Sambati, L., additional, Spagnolo, F., additional, Tassorelli, C., additional, Valentino, F., additional, Valzania, F., additional, Zangaglia, R., additional, Zibetti, M., additional, and Valente, E.M., additional
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- 2024
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4. A case report of acute thrombocytopenia induced by Apomorphine in a patient with Parkinson's disease with motor fluctuations
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Pocora, M.M., primary, Avenali, M., additional, Croce, M.G., additional, Valentino, F., additional, Rugginini, B., additional, Ferrari, F., additional, Porta, G. della, additional, Tassorelli, C., additional, Pacchetti, C., additional, and Zangaglia, R., additional
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- 2024
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5. Determination of Ambroxol Levels in Plasma and Cerebrospinal Fluid by Online Solid-Phase Extraction Coupled with Liquid Chromatography-Tandem Mass Spectrometry in GBA-Parkinson Disease Patients
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Franco, V., primary, Palmisani, M., additional, Colucci, F., additional, De Micco, R., additional, Aloisio, S., additional, Cazzaniga, F., additional, Cerri, S., additional, Cuconato, G., additional, Devigili, G., additional, Franciotta, D., additional, Eleopra, R., additional, Elia, A., additional, Garavaglia, B., additional, Andreasi, N. Golfrè, additional, Invernizzi, F., additional, Leta, V., additional, Moda, F., additional, Mitrotti, P., additional, Picascia, M., additional, Reale, C., additional, Romito, L., additional, Siciliano, M., additional, Stiuso, R., additional, Tessitore, A., additional, Valente, E.M., additional, Avenali, M., additional, and Cilia, R., additional
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- 2024
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6. Intronic GAA-FGF14 Expansion in an italian patient presenting with early-onset cerebellar ataxia
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Mitrotti, P., primary, Avenali, M., additional, Vegezzi, E., additional, Zangaglia, R., additional, Cortese, A., additional, Currò, R., additional, Pellerin, D., additional, Dicaire, M.-J., additional, Brais, B., additional, Palmieri, I., additional, Gana, S., additional, and Valente, E.M., additional
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- 2024
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7. Parkinson's disease following COVID-19: six cases report
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Calculli, A., Bocci, T., Porcino, M., Avenali, M., Casellato, C., Arceri, S., Regalbuto, S., Priori, A., and Pisani, A.
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COVID-19 ,Parkinson's disease ,SARS-CoV-2 ,neurodegeneration ,parkinsonism ,Settore MED/26 - Neurologia - Published
- 2023
8. Botulinum toxin type A potentiates the effect of neuromotor rehabilitation of Pisa syndrome in Parkinson disease: A placebo controlled study
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Tassorelli, C., De Icco, R., Alfonsi, E., Bartolo, M., Serrao, M., Avenali, M., De Paoli, I., Conte, C., Pozzi, N.G., Bramanti, P., Nappi, G., and Sandrini, G.
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- 2014
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9. Consensus on the treatment of dysphagia in Parkinson's disease
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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.
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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
10. Cost of Chronic and Episodic Migraine: a pilot study from a tertiary headache centre in northern Italy
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Berra, E, Sances, G, De Icco, R, Avenali, M, Berlangieri, M, De Paoli, I, Bolla, M, Allena, M, Ghiotto, N, Guaschino, E, Cristina, S, Tassorelli, C, Sandrini, G, and Nappi, G
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- 2015
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11. GBA-Related Parkinson’s Disease:Dissection of Genotype–Phenotype Correlates in a LargeItalian Cohort
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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
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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.
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- 2020
12. GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort
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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.
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dementia ,GBA ,genotype–phenotype correlates ,impulsive–compulsive behavior ,Parkinson's disease - Published
- 2020
13. Combined Assessment of GCase Activity and α-synuclein as a Promising Blood Biomarker for GBA Mutation Carriers.
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Pasquini, C., Avenali, M., Caminiti, S.P., Cerri, S., Gegg, M., Toffoli, M., Ongari, G., Hughes, D., Cerami, C., Crespi, C., Valente, E.M., Schapira, A.H.V., and Blandini, F.
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ALPHA-synuclein , *BIOMARKERS , *GENETIC mutation - Published
- 2024
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14. Multisensory integration techniques in neurorehabilitation: The use of virtual reality as a rehabilitation tool
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Matamala-Gomez Marta, De Icco R., Avenali M., Balsamo F., Matamala-Gomez, M, De Icco, R, Avenali, M, and Balsamo, F
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Mental training ,Multisensory integration technique ,Virtual reality - Abstract
This article aims to briefly review the different multisensory integration techniques by using visual feedback in rehabilitation that had led to the use of virtual reality as a rehabilitation tool. Today, virtual reality is taking a key role in the field of rehabilitation, especially in the field of neurorehabilitation, to treat motor, cognitive and pain disorders. However, it is unknown which is the best way to conduct this therapy and which kind of patients may get greater benefit from such therapy.
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- 2018
15. Proprioceptive Focal Stimulation (Equistasi®) may improve gait in severe Parkinson’s disease patients. Double-blind, double-dummy, randomized, crossover, Italian Multicentric study
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Peppe, A., Paone, P., Paravati, S., Baldassarre, M. G., Bakdounes, L., Spolaor, F., Guiotto, A., Pavan, D., Sawacha, Z., Clerici, D., Cau, N., Mauro, A., Albani, G., Avenali, M., Sandrin, G., Tassorelli, C., and Volpe, D.
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parkinson ,equistasi ,parkinson, equistasi - Published
- 2018
16. Changes in anxiety and depression symptoms associated to the outcome of MOH: A post-hoc analysis of the Comoestas Project
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Bottiroli S, Allena M, Sances G, De Icco R, Avenali M, Fadic R, Katsarava Z, Lainez M, Goicochea M, Jensen R, Nappi G, Tassorelli C, and Comoestas Consortium
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- 2018
17. Time for a consensus conference on pain in neurorehabilitation
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Sandrini, G, Tamburin, S, Paolucci, S, Boldrini, P, Saraceni, V, Smania, N, Italian Consensus Conference on Pain in Neurorehabilitation, Agostini, M, Alfonsi, E, Aloisi, A, Alvisi, E, Aprile, I, Armando, M, Avenali, M, Azicnuda, E, Barale, F, Bartolo, M, Bergamaschi, R, Berlangieri, M, Berlincioni, V, Berliocchi, L, Berra, E, Berto, G, Bonadiman, S, Bonazza, S, Bressi, F, Brugnera, A, Brunelli, S, Buzzi, M, Cacciatori, C, Calvo, A, Cantarella, C, Caraceni, A, Carone, R, Carraro, E, Casale, R, Castellazzi, P, Castelnuovo, G, Castino, A, Cella, M, Cerbo, R, Chiò, A, Ciotti, C, Cisari, C, Coraci, D, Dalla Toffola, E, Defazio, G, De Icco, R, Del Carro, U, Dell’Isola, A, De Tanti, A, D’Ippolito, M, Fazzi, E, Federico, A, Ferrari, A, Ferrari, S, Ferraro, F, Formaglio, F, Formisano, R, Franzoni, S, Gajofatto, F, Gandolfi, M, Gardella, B, Geppetti, P, Giammò, A, Gimigliano, R, Giusti, E, Greco, E, Ieraci, V, Invernizzi, M, Jacopetti, M, Jedrychowska, I, Lacerenza, M, La Cesa, S, Lobba, D, Magrinelli, F, Mandrini, S, Manera, U, Manzoni, G, Marchettini, P, Marchioni, E, Mariotto, S, Martinuzzi, A, Masciullo, M, Mezzarobba, S, Miotti, D, Modenese, A, Molinari, M, Monaco, S, Morone, G, Nappi, R, Negrini, S, Pace, A, Padua, L, Pagliano, E, Palmerini, V, Pazzaglia, C, Pecchioli, C, Pietrabissa, G, Picelli, A, Polli, A, Porro, C, Porru, D, Romano, M, Roncari, L, Rosa, R, Saccavini, M, Sacerdote, P, Saviola, D, Schenone, A, Schweiger, V, Scivoletto, G, Solaro, C, Spallone, V, Springhetti, I, Tassorelli, C, Tinazzi, M, Togni, R, Torre, M, Torta, R, Traballesi, M, Trabucco, E, Tramontano, M, Truini, A, Tugnoli, V, Turolla, A, Valeriani, M, Vallies, G, Verzini, E, Vottero, M, Mario, P, Sandrini, Giorgio, Tamburin, Stefano, Paolucci, Stefano, Boldrini, Paolo, Saraceni, Vincenzo M., Smania, Nicola, Agostini, Michela, Alfonsi, Enrico, Aloisi, Anna Maria, Alvisi, Elena, Aprile, Irene, Armando, Michela, Avenali, Micol, Azicnuda, Eva, Barale, Francesco, Bartolo, Michelangelo, Bergamaschi, Roberto, Berlangieri, Mariangela, Berlincioni, Vanna, Berliocchi, Laura, Berra, Eliana, Berto, Giulia, Bonadiman, Silvia, Bonazza, Sara, Bressi, Federica, Brugnera, Annalisa, Brunelli, Stefano, Buzzi, Maria Gabriella, Cacciatori, Carlo, Calvo, Andrea, Cantarella, Cristina, Caraceni, Augusto Tommaso, Carone, Roberto, Carraro, Elena, Casale, Roberto, Castellazzi, Paola, Castelnuovo, Gianluca, Castino, Adele, Cella, Monica, Cerbo, Rosanna, Chiò, Adriano, Ciotti, Cristina, Cisari, Carlo, Coraci, Daniele, Toffola, Elena Dalla, Defazio, Giovanni, De Icco, Roberto, Del Carro, Ubaldo, Dell'Isola, Andrea, De Tanti, Antonio, D'Ippolito, Mariagrazia, Fazzi, Elisa, Federico, Angela, Ferrari, Adriano, Ferrari, Sergio, Ferraro, Francesco, Formaglio, Fabio, Formisano, Rita, Franzoni, Simone, Gajofatto, Francesca, Gandolfi, Marialuisa, Gardella, Barbara, Geppetti, Pierangelo, Giammò, Alessandro, Gimigliano, Raffaele, Giusti, Emanuele Maria, Greco, Elena, Ieraci, Valentina, Invernizzi, Marco, Jacopetti, Marco, Jedrychowska, Iwona, Lacerenza, Marco, La Cesa, Silvia, Lobba, Davide, Magrinelli, Francesca, Mandrini, Silvia, Manera, Umberto, Manzoni, Gian Mauro, Marchettini, Paolo, Marchioni, Enrico, Mariotto, Sara, Martinuzzi, Andrea, Masciullo, Marcella, Mezzarobba, Susanna, Miotti, Danilo, Modenese, Angela, Molinari, Marco, Monaco, Salvatore, Morone, Giovanni, Nappi, Rossella, Negrini, Stefano, Pace, Andrea, Padua, Luca, Pagliano, Emanuela, Palmerini, Valerio, Pazzaglia, Costanza, Pecchioli, Cristiano, Pietrabissa, Giada, Picelli, Alessandro, Polli, Andrea, Porro, Carlo Adolfo, Porru, Daniele, Romano, Marcello, Roncari, Laura, Rosa, Riccardo, Saccavini, Marsilio, Sacerdote, Paola, Saviola, Donatella, Schenone, Angelo, Schweiger, Vittorio, Scivoletto, Giorgio, Solaro, Claudio, Spallone, Vincenza, Springhetti, Isabella, Tassorelli, Cristina, Tinazzi, Michele, Togni, Rossella, Torre, Monica, Torta, Riccardo, Traballesi, Marco, Trabucco, Erika, Tramontano, Marco, Truini, Andrea, Tugnoli, Valeria, Turolla, Andrea, Valeriani, Massimiliano, Vallies, Gabriella, Verzini, Elisabetta, Vottero, Mario, and Zerbinati, Paolo
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Male ,peripheral neuropathy ,Time Factors ,Physical Therapy ,consensus conference ,Consensus Development Conferences as Topic ,Sports Therapy and Rehabilitation ,Settore M-PSI/08 - PSICOLOGIA CLINICA ,pain ,diabetic neuropathy ,neurorehabilitation ,neuropathic pain ,Settore MED/13 - Endocrinologia ,Humans ,Pain Management ,Randomized Controlled Trials as Topic ,Physical Therapy, Sports Therapy and Rehabilitation ,Rehabilitation ,Female ,Italy ,Neurological Rehabilitation ,neurorehabilitation, pain, consensus conference ,Settore MED/34 - Medicina Fisica e Riabilitativa ,Settore MED/26 - Neurologia ,Human
18. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
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Vollstedt, Eva-Juliane, Schaake, Susen, Lohmann, Katja, Padmanabhan, Shalini, Brice, Alexis, Lesage, Suzanne, Tesson, Christelle, Vidailhet, Marie, Wurster, Isabel, Hentati, Faycel, Mirelman, Anat, Giladi, Nir, Marder, Karen, Waters, Cheryl, Fahn, Stanley, Kasten, Meike, Brüggemann, Norbert, Borsche, Max, Foroud, Tatiana, Tolosa, Eduardo, Garrido, Alicia, Annesi, Grazia, Gagliardi, Monica, Bozi, Maria, Stefanis, Leonidas, Ferreira, Joaquim J, Correia Guedes, Leonor, Avenali, Micol, Petrucci, Simona, Clark, Lorraine, Fedotova, Ekaterina Y, Abramycheva, Natalya Y, Alvarez, Victoria, Menéndez-González, Manuel, Jesús Maestre, Silvia, Gómez-Garre, Pilar, Mir, Pablo, Belin, Andrea Carmine, Ran, Caroline, Lin, Chin-Hsien, Kuo, Ming-Che, Crosiers, David, Wszolek, Zbigniew K, Ross, Owen A, Jankovic, Joseph, Nishioka, Kenya, Funayama, Manabu, Clarimon, Jordi, Williams-Gray, Caroline H, Camacho, Marta, Cornejo-Olivas, Mario, Torres-Ramirez, Luis, Wu, Yih-Ru, Lee-Chen, Guey-Jen, Morgadinho, Ana, Pulkes, Teeratorn, Termsarasab, Pichet, Berg, Daniela, Kuhlenbäumer, Gregor, Kühn, Andrea A, Borngräber, Friederike, De Michele, Giuseppe, De Rosa, Anna, Zimprich, Alexander, Puschmann, Andreas, Mellick, George D, Dorszewska, Jolanta, Carr, Jonathan, Ferese, Rosangela, Gambardella, Stefano, Chase, Bruce, Markopoulou, Katerina, Satake, Wataru, Toda, Tatsushi, Rossi, Malco, Merello, Marcelo, Lynch, Timothy, Olszewska, Diana A, Lim, Shen-Yang, Ahmad-Annuar, Azlina, Tan, Ai Huey, Al-Mubarak, Bashayer, Hanagasi, Hasmet, Koziorowski, Dariusz, Ertan, Sibel, Genç, Gençer, De Carvalho Aguiar, Patricia, Barkhuizen, Melinda, Pimentel, Marcia MG, Saunders-Pullman, Rachel, Van De Warrenburg, Bart, Bressman, Susan, Toft, Mathias, Appel-Cresswell, Silke, Lang, Anthony E, Skorvanek, Matej, Boon, Agnita JW, Krüger, Rejko, Sammler, Esther M, Tumas, Vitor, Zhang, Bao-Rong, Garraux, Gaetan, Chung, Sun Ju, Kim, Yun Joong, Winkelmann, Juliane, Sue, Carolyn M, Tan, Eng-King, Damásio, Joana, Klivényi, Péter, Kostic, Vladimir S, Arkadir, David, Martikainen, Mika, Borges, Vanderci, Hertz, Jens Michael, Brighina, Laura, Spitz, Mariana, Suchowersky, Oksana, Riess, Olaf, Das, Parimal, Mollenhauer, Brit, Gatto, Emilia M, Petersen, Maria Skaalum, Hattori, Nobutaka, Wu, Ruey-Meei, Illarioshkin, Sergey N, Valente, Enza Maria, Aasly, Jan O, Aasly, Anna, Alcalay, Roy N, Thaler, Avner, Farrer, Matthew J, Brockmann, Kathrin, Corvol, Jean-Christophe, Klein, Christine, MJFF Global Genetic Parkinson's Disease Study Group, Vollstedt, Ej, Schaake, S, Lohmann, K, Padmanabhan, S, Brice, A, Lesage, S, Tesson, C, Vidailhet, M, Wurster, I, Hentati, F, Mirelman, A, Giladi, N, Marder, K, Waters, C, Fahn, S, Kasten, M, Brüggemann, N, Borsche, M, Foroud, T, Tolosa, E, Garrido, A, Annesi, G, Gagliardi, M, Bozi, M, Stefanis, L, Ferreira, Jj, Correia Guedes, L, Avenali, M, Petrucci, S, Clark, L, Fedotova, Ey, Abramycheva, Ny, Alvarez, V, Menéndez-González, M, Jesús Maestre, S, Gómez-Garre, P, Mir, P, Belin, Ac, Ran, C, Lin, Ch, Kuo, Mc, Crosiers, D, Wszolek, Zk, Ross, Oa, Jankovic, J, Nishioka, K, Funayama, M, Clarimon, J, Williams-Gray, Ch, Camacho, M, Cornejo-Olivas, M, Torres-Ramirez, L, Wu, Yr, Lee-Chen, Gj, Morgadinho, A, Pulkes, T, Termsarasab, P, Berg, D, Kuhlenbäumer, G, Kühn, Aa, Borngräber, F, de Michele, G, De Rosa, A, Zimprich, A, Puschmann, A, Mellick, Gd, Dorszewska, J, Carr, J, Ferese, R, Gambardella, S, Chase, B, Markopoulou, K, Satake, W, Toda, T, Rossi, M, Merello, M, Lynch, T, Olszewska, Da, Lim, Sy, Ahmad-Annuar, A, Tan, Ah, Al-Mubarak, B, Hanagasi, H, Koziorowski, D, Ertan, S, Genç, G, de Carvalho Aguiar, P, Barkhuizen, M, Pimentel, Mmg, Saunders-Pullman, R, van de Warrenburg, B, Bressman, S, Toft, M, Appel-Cresswell, S, Lang, Ae, Skorvanek, M, Boon, Ajw, Krüger, R, Sammler, Em, Tu, Repositório da Universidade de Lisboa, Clinical Genetics, Neurology, Internal Medicine, Aasly, Anna, Aasly, Jan O, Abramycheva, Natalya Y, Ahmad-Annuar, Azlina, Albanese, Alberto, Alcalay, Roy N, Aldakheel, Amaal, Alkhairallah, Thamer, Al-Mubarak, Bashayer, Al-Tassan, Nada, Alvarez, Victoria, Amami, Paolo, Annesi, Grazia, Appel-Cresswell, Silke, Leite, Marco Antonio Araujo, Arkadir, David, Avenali, Micol, Ferraz, Henrique Ballalai, Bardien, Soraya, Barkhuizen, Melinda, Barrett, Matthew J, Başak, A Nazlı, Berg, Daniela, Bilgic, Basar, Bloem, Bastiaan R, Bonifati, Vincenzo, Boon, Agnita J W, Borges, Vanderci, Borngräber, Friederike, Borsche, Max, Bozi, Maria, Bressman, Susan, Brice, Alexis, Brighina, Laura, Brockmann, Kathrin, Brüggemann, Norbert, Camacho, Marta, Belin, Andrea Carmine, Carr, Jonathan, Cesarini, Martin Emiliano, Cornejo-Olivas, Mario, Chase, Bruce, Chung, Sun Ju, Guedes, Leonor Correia, Clarimon, Jordi, Clark, Lorraine, Corvol, Jean-Christophe, Crosiers, David, Das, Parimal, de Carvalho Aguiar, Patricia, Damásio, Joana, de Michele, Giuseppe, De Rosa, Anna, Dieguez, Elena, Dorszewska, Jolanta, Ertan, Sibel, Fahn, Stanley, Farrer, Matthew J, Fedotova, Ekaterina Y, Ferese, Rosangela, Ferreira, Joaquim J, Foroud, Tatiana, Funayama, Manabu, Fung, Victor S C, Gagliardi, Monica, Gambardella, Stefano, Garraux, Gaetan, Garrido, Alicia, Gatto, Emilia M, Genç, Gençer, Giladi, Nir, Gómez-Garre, Pilar, Hanagasi, Hasmet, Hattori, Nobutaka, Hentati, Faycel, Hertz, Jens Michael, Illarioshkin, Sergey N, Jankovic, Joseph, Januario, Cristina, Maestre, Silvia Jesús, Kaasinen, Valtteri, Kasten, Meike, Kataoka, Hiroshi, Kievit, Anneke A, Kim, Yun Joong, Klein, Christine, Klivényi, Péter, Kostic, Vladimir S, Koziorowski, Dariusz, Krüger, Rejko, Kühn, Andrea, Kuhlenbäumer, Gregor, Kuo, Ming-Che, Lang, Anthony E, Lee-Chen, Guey-Jen, Lesage, Suzanne, Lim, Jia Lun, Lim, Shen-Yang, Lin, Chin-Hsien, Lohmann, Katja, Lynch, Timothy, Marder, Karen, Markopoulou, Katerina, Martikainen, Mika, May, Patrick, McCarthy, Allan, Mellick, George D, Menéndez-González, Manuel, Merello, Marcelo, Mir, Pablo, Mirelman, Anat, Mollenhauer, Brit, Briceno, Hugo Morales, Morgadinho, Ana, Morris, Huw, Mosejova, Alexandra, Nishioka, Kenya, Çakmak, Özgür Öztop, Olszewska, Diana A, Orr-Urtreger, Avi, Pachchek, Sinthuja, Padmanabhan, Shalini, Periñán, Maria Teresa, Petrucci, Simona, Pimentel, Marcia M G, Procopio, Radha, Pulkes, Teeratorn, Puschmann, Andreas, Ran, Caroline, Riess, Olaf, Ross, Owen A, Rossi, Malco, Ruiz-Martinez, Javier, Sammler, Esther M, Pereira, João Santos, Satake, Wataru, Saunders-Pullman, Rachel, Schaake, Susen, Petersen, Maria Skaalum, Skorvanek, Matej, Stefanis, Leonidas, Soto-Beasley, Alexandra I, Sousa, Mário, Spitz, Mariana, Suchowersky, Oksana, Sue, Carolyn M, Tan, Ai Huey, Tan, Eng-King, Thaler, Avner, Tepgeç, Fatih, Termsarasab, Pichet, Tesson, Christelle, Toda, Tatsushi, Toft, Mathias, Tolosa, Eduardo, Torres-Ramirez, Luis, Tumas, Vitor, Uyguner, Oya, Valente, Enza Maria, van de Warrenburg, Bart, Vidailhet, Marie, Vollstedt, Eva-Juliane, Walton, Ronald L, Waters, Cheryl, Williams-Gray, Caroline H, Winkelmann, Juliane, Wu, Yih-Ru, Wurster, Isabel, Wszolek, Zbigniew K, Wu, Ruey-Meei, Zhang, Bao-Rong, Zimprich, Alexander, Vollstedt, Eva-Juliane [0000-0002-6898-9201], Lohmann, Katja [0000-0002-5121-1460], Mirelman, Anat [0000-0002-1520-2292], Brüggemann, Norbert [0000-0001-5969-6899], Borsche, Max [0000-0002-9651-5986], Tolosa, Eduardo [0000-0002-3781-0854], Ferreira, Joaquim J [0000-0003-3950-5113], Alvarez, Victoria [0000-0002-1916-2523], Mir, Pablo [0000-0003-1656-302X], Kuo, Ming-Che [0000-0003-3688-0225], Ross, Owen A [0000-0003-4813-756X], Nishioka, Kenya [0000-0001-8607-9757], Williams-Gray, Caroline H [0000-0002-2648-9743], Camacho, Marta [0000-0002-1490-5703], Cornejo-Olivas, Mario [0000-0001-6313-5680], Wu, Yih-Ru [0000-0003-1191-2542], Termsarasab, Pichet [0000-0002-3260-3119], Borngräber, Friederike [0000-0001-9650-6820], Zimprich, Alexander [0000-0002-1668-5177], Gambardella, Stefano [0000-0002-3727-4502], Chase, Bruce [0000-0001-5491-7242], Olszewska, Diana A [0000-0002-1814-8834], Tan, Ai Huey [0000-0002-2979-3839], Barkhuizen, Melinda [0000-0002-9952-7085], Appel-Cresswell, Silke [0000-0002-5986-1468], Skorvanek, Matej [0000-0001-5497-8715], Sammler, Esther M [0000-0003-3218-7116], Zhang, Bao-Rong [0000-0002-8099-7407], Chung, Sun Ju [0000-0003-4118-8233], Apollo - University of Cambridge Repository, and MJFF Global Genetic Parkinson's Disease Study Group
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parkinson's disease ,monogenic pd ,monogenic PD ,Parkinson's disease ,Monogenic PD ,Parkinson Disease ,Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] ,ddc ,Neurology ,genetics [Parkinson Disease] ,Mutation ,Humans ,Human medicine ,ddc:610 ,Neurology (clinical) ,Research Article ,Research Articles - Abstract
© 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited., Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objective: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. Methods: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype-phenotype relationships were analyzed. Results: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. Conclusions: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene-targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society., Michael J. Fox Foundation for Parkinson's Research. Grant Number: ID 15015.02. NIHR Cambridge Biomedical Research Centre. Grant Number: BRC-1215-20014
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- 2023
19. A multinational consensus on dysphagia in Parkinson's disease:screening, diagnosis and prognostic value
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Enrico Alfonsi, Maggie-Lee Huckabee, Giovanni Abbruzzese, Marco Benazzo, Shaheen Hamdy, Leonardo Lopiano, Pietro Cortelli, Chiara Ferrari, Fabrizio Stocchi, Cristina Montomoli, Rosario Marchese Ragona, Francesca Valentino, Giovanni Ruoppolo, Anthony H.V. Schapira, Filippo Barbiera, Roberto Eleopra, Mariangela Rondanelli, Nicole Pizzorni, Giuseppe Cosentino, Cristina Tassorelli, Antonio Schindler, Giorgio Sandrini, Ronald F. Pfeiffer, Angelo Antonini, Emilia Michou, Claudio Pacchetti, Antonio Occhini, Pere Clavé, Domenico A. Restivo, Mauro Zamboni, Stefano Masiero, Roberta Zangaglia, Eduardo Tolosa, Mario Zappia, Micol Avenali, Giulia Bertino, Eduardo Elias Benarroch, Emanuele Cereda, Cosentino G., Avenali M., Schindler A., Pizzorni N., Montomoli C., Abbruzzese G., Antonini A., Barbiera F., Benazzo M., Benarroch E.E., Bertino G., Cereda E., 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.H.V., Stocchi F., Tolosa E., Valentino F., Zamboni M., Zangaglia R., Zappia M., Tassorelli C., and Alfonsi E.
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medicine.medical_specialty ,Parkinson's disease ,Neurology ,dysphagia ,deglutition disorders ,swallowing disorders ,Clinical Neurology ,Deglutition disorders ,Dysphagia ,Swallowing disorders ,Deglutition ,Humans ,Italy ,Prognosis ,Quality of Life ,Deglutition Disorders ,Parkinson Disease ,Disease ,PHARYNGEAL DYSPHAGIA ,Severity assessment ,Quality of life ,QUALITY-OF-LIFE ,MANOMETRIC ABNORMALITIES ,medicine ,otorhinolaryngologic diseases ,Intensive care medicine ,ASPIRATION PNEUMONIA ,Deglutition disorder ,Neuroradiology ,Science & Technology ,CLINICAL-ASSESSMENT ,business.industry ,Consensus conference ,OROPHARYNGEAL DYSPHAGIA ,medicine.disease ,DYSFUNCTION ,PENETRATION-ASPIRATION ,Neurosciences & Neurology ,Neurology (clinical) ,medicine.symptom ,business ,Life Sciences & Biomedicine ,VOLUNTARY COUGH - Abstract
Background Parkinson’s disease (PD) is a neurodegenerative disorder characterized by a combination of motor and non-motor dysfunction. Dysphagia is a common symptom in PD, though it is still too frequently underdiagnosed. Consensus is lacking on screening, diagnosis, and prognosis of dysphagia in PD. Objective To systematically review the literature and to define consensus statements on the screening and the diagnosis of dysphagia in PD, as well as on the impact of dysphagia on the prognosis and quality of life (QoL) of PD patients. Methods A multinational group of experts in the field of neurogenic dysphagia and/or PD conducted a systematic revision of the literature published since January 1990 to February 2021 and reported the results according to PRISMA guidelines. The output of the research was then analyzed and discussed in a consensus conference convened in Pavia, Italy, where the consensus statements were drafted. The final version of statements was subsequently achieved by e-mail consensus. Results Eighty-five papers were used to inform the Panel’s statements even though most of them were of Class IV quality. The statements tackled four main areas: (1) screening of dysphagia: timing and tools; (2) diagnosis of dysphagia: clinical and instrumental detection, severity assessment; (3) dysphagia and QoL: impact and assessment; (4) prognostic value of dysphagia; impact on the outcome and role of associated conditions. Conclusions The statements elaborated by the Consensus Panel provide a framework to guide the neurologist in the timely detection and accurate diagnosis of dysphagia in PD.
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- 2021
20. Psychological Considerations in the Assessment and Treatment of Pain in Neurorehabilitation and Psychological Factors Predictive of Therapeutic Response: Evidence and Recommendations from the Italian Consensus Conference on Pain in Neurorehabilitation
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Castelnuovo, Gianluca, Giusti, Emanuele M., Manzoni, Gian Mauro, Saviola, Donatella, Gatti, Arianna, Gabrielli, Samantha, Lacerenza, Marco, Pietrabissa, Giada, Cattivelli, Roberto, Spatola, Chiara A. M., Corti, Stefania, Novelli, Margherita, Villa, Valentina, Cottini, Andrea, Lai, Carlo, Pagnini, Francesco, Castelli, Lorys, Tavola, Mario, Torta, Riccardo, Arreghini, Marco, Zanini, Loredana, Brunani, Amelia, Capodaglio, Paolo, D'aniello, Guido E., Scarpina, Federica, Brioschi, Andrea, Priano, Lorenzo, Mauro, Alessandro, Riva, Giuseppe, Repetto, Claudia, Regalia, Camillo, Molinari, Enrico, Notaro, Paolo, Paolucci, Stefano, Sandrini, Giorgio, Simpson, Susan G., Wiederhold, Brenda, Tamburin, Stefano, Agostini, Michela, Alfonsi, Enrico, Aloisi, Anna Maria, Alvisi, Elena, Aprile, Irene, Armando, Michela, Avenali, Micol, Azicnuda, Eva, Barale, Francesco, Bartolo, Michelangelo, Bergamaschi, Roberto, Berlangieri, Mariangela, Berlincioni, Vanna, Berliocchi, Laura, Berra, Eliana, Berto, Giulia, Bonadiman, Silvia, Bonazza, Sara, Bressi, Federica, Brugnera, Annalisa, Brunelli, Stefano, Buzzi, Maria Gabriella, Cacciatori, Carlo, Calvo, Andrea, Cantarella, Cristina, Caraceni, Augusto, Carone, Roberto, Carraro, Elena, Casale, Roberto, Castellazzi, Paola, Castino, Adele, Cerbo, Rosanna, Chiã², Adriano, Ciotti, Cristina, Cisari, Carlo, Coraci, Daniele, Toffola, Elena Dalla, Defazio, Giovanni, De Icco, Roberto, Del Carro, Ubaldo, Dell'isola, Andrea, De Tanti, Antonio, D'ippolito, Mariagrazia, Fazzi, Elisa, Ferrari, Adriano, Ferrari, Sergio, Ferraro, Francesco, Formaglio, Fabio, Formisano, Rita, Franzoni, Simone, Gajofatto, Francesca, Gandolfi, Marialuisa, Gardella, Barbara, Geppetti, Pierangelo, Giammã², Alessandro, Gimigliano, Raffaele, Greco, Elena, Ieraci, Valentina, Invernizzi, Marco, Jacopetti, Marco, La Cesa, Silvia, Lobba, Davide, Magrinelli, Francesca, Mandrini, Silvia, Manera, Umberto, Marchettini, Paolo, Marchioni, Enrico, Mariotto, Sara, Martinuzzi, Andrea, Masciullo, Marella, Mezzarobba, Susanna, Miotti, Danilo, Modenese, Angela, Molinari, Marco, Monaco, Salvatore, Morone, Giovanni, Nappi, Rossella, Negrini, Stefano, Pace, Andrea, Padua, Luca, Pagliano, Emanuela, Palmerini, Valerio, Pazzaglia, Costanza, Pecchioli, Cristiano, Picelli, Alessandro, Porro, Carlo Adolfo, Porru, Daniele, Romano, Marcello, Roncari, Laura, Rosa, Riccardo, Saccavini, Marsilio, Sacerdote, Paola, Schenone, Angelo, Schweiger, Vittorio, Scivoletto, Giorgio, Smania, Nicola, Solaro, Claudio, Spallone, Vincenza, Springhetti, Isabella, Tassorelli, Cristina, Tinazzi, Michele, Togni, Rossella, Torre, Monica, Traballesi, Marco, Tramontano, Marco, Truini, Andrea, Tugnoli, Valeria, Turolla, Andrea, Vallies, Gabriella, Verzini, Elisabetta, Vottero, Mario, Zerbinati, Paolo, Castelnuovo, Gianluca, Giusti, Emanuele M., Manzoni, Gian Mauro, Saviola, Donatella, Gatti, Arianna, Gabrielli, Samantha, Lacerenza, Marco, Pietrabissa, Giada, Cattivelli, Roberto, Spatola, Chiara A. M., Corti, Stefania, Novelli, Margherita, Villa, Valentina, Cottini, Andrea, Lai, Carlo, Pagnini, Francesco, Castelli, Lory, Tavola, Mario, Torta, Riccardo, Arreghini, Marco, Zanini, Loredana, Brunani, Amelia, Capodaglio, Paolo, D'Aniello, Guido E., Scarpina, Federica, Brioschi, Andrea, Priano, Lorenzo, Mauro, Alessandro, Riva, Giuseppe, Repetto, Claudia, Regalia, Camillo, Molinari, Enrico, Notaro, Paolo, Paolucci, Stefano, Sandrini, Giorgio, Simpson, Susan G., Wiederhold, Brenda, Tamburin, Stefano, Agostini, Michela, Alfonsi, Enrico, Aloisi, Anna Maria, Alvisi, Elena, Aprile, Irene, Armando, Michela, Avenali, Micol, Azicnuda, Eva, Barale, Francesco, Bartolo, Michelangelo, Bergamaschi, Roberto, Berlangieri, Mariangela, Berlincioni, Vanna, Berliocchi, Laura, Berra, Eliana, Berto, Giulia, Bonadiman, Silvia, Bonazza, Sara, Bressi, Federica, Brugnera, Annalisa, Brunelli, Stefano, Buzzi, Maria Gabriella, Cacciatori, Carlo, Calvo, Andrea, Cantarella, Cristina, Caraceni, Augusto, Carone, Roberto, Carraro, Elena, Casale, Roberto, Castellazzi, Paola, Castino, Adele, Cerbo, Rosanna, Chiã², Adriano, Ciotti, Cristina, Cisari, Carlo, Coraci, Daniele, Toffola, Elena Dalla, Defazio, Giovanni, De Icco, Roberto, Del Carro, Ubaldo, Dell'Isola, Andrea, De Tanti, Antonio, D'Ippolito, Mariagrazia, Fazzi, Elisa, Ferrari, Adriano, Ferrari, Sergio, Ferraro, Francesco, Formaglio, Fabio, Formisano, Rita, Franzoni, Simone, Gajofatto, Francesca, Gandolfi, Marialuisa, Gardella, Barbara, Geppetti, Pierangelo, Giammã², Alessandro, Gimigliano, Raffaele, Greco, Elena, Ieraci, Valentina, Invernizzi, Marco, Jacopetti, Marco, La Cesa, Silvia, Lobba, Davide, Magrinelli, Francesca, Mandrini, Silvia, Manera, Umberto, Marchettini, Paolo, Marchioni, Enrico, Mariotto, Sara, Martinuzzi, Andrea, Masciullo, Marella, Mezzarobba, Susanna, Miotti, Danilo, Modenese, Angela, Molinari, Marco, Monaco, Salvatore, Morone, Giovanni, Nappi, Rossella, Negrini, Stefano, Pace, Andrea, Padua, Luca, Pagliano, Emanuela, Palmerini, Valerio, Pazzaglia, Costanza, Pecchioli, Cristiano, Picelli, Alessandro, Porro, Carlo Adolfo, Porru, Daniele, Romano, Marcello, Roncari, Laura, Rosa, Riccardo, Saccavini, Marsilio, Sacerdote, Paola, Schenone, Angelo, Schweiger, Vittorio, Scivoletto, Giorgio, Smania, Nicola, Solaro, Claudio, Spallone, Vincenza, Springhetti, Isabella, Tassorelli, Cristina, Tinazzi, Michele, Togni, Rossella, Torre, Monica, Traballesi, Marco, Tramontano, Marco, Truini, Andrea, Tugnoli, Valeria, Turolla, Andrea, Vallies, Gabriella, Verzini, Elisabetta, Vottero, Mario, Zerbinati, Paolo, Castelnuovo G., Giusti E.M., Manzoni G.M., Saviola D., Gatti A., Gabrielli S., Lacerenza M., Pietrabissa G., Cattivelli R., Spatola C.A.M., Corti S., Novelli M., Villa V., Cottini A., Lai C., Pagnini F., Castelli L., Tavola M., Torta R., Arreghini M., Zanini L., Brunani A., Capodaglio P., D'Aniello G.E., Scarpina F., Brioschi A., Priano L., Mauro A., Riva G., Repetto C., Regalia C., Molinari E., Notaro P., Paolucci S., Sandrini G., Simpson S.G., Wiederhold B., Tamburin S., Agostini M., Alfonsi E., Aloisi A.M., Alvisi E., Aprile I., Armando M., Avenali M., Azicnuda E., Barale F., Bartolo M., Bergamaschi R., Berlangieri M., Berlincioni V., Berliocchi L., Berra E., Berto G., Bonadiman S., Bonazza S., Bressi F., Brugnera A., Brunelli S., Buzzi M.G., Cacciatori C., Calvo A., Cantarella C., Caraceni A., Carone R., Carraro E., Casale R., Castellazzi P., Castino A., Cerbo R., Chio A., Ciotti C., Cisari C., Coraci D., Toffola E.D., Defazio G., De Icco R., Del Carro U., Dell'Isola A., De Tanti A., D'Ippolito M., Fazzi E., Ferrari A., Ferrari S., Ferraro F., Formaglio F., Formisano R., Franzoni S., Gajofatto F., Gandolfi M., Gardella B., Geppetti P., Giammo A., Gimigliano R., Greco E., Ieraci V., Invernizzi M., Jacopetti M., La Cesa S., Lobba D., Magrinelli F., Mandrini S., Manera U., Marchettini P., Marchioni E., Mariotto S., Martinuzzi A., Masciullo M., Mezzarobba S., Miotti D., Modenese A., Molinari M., Monaco S., Morone G., Nappi R., Negrini S., Pace A., Padua L., Pagliano E., Palmerini V., Pazzaglia C., Pecchioli C., Picelli A., Porro C.A., Porru D., Romano M., Roncari L., Rosa R., Saccavini M., Sacerdote P., Schenone A., Schweiger V., Scivoletto G., Smania N., Solaro C., Spallone V., Springhetti I., Tassorelli C., Tinazzi M., Togni R., Torre M., Traballesi M., Tramontano M., Truini A., Tugnoli V., Turolla A., Vallies G., Verzini E., Vottero M., Zerbinati P., Giusti, Emanuele M, and Simpson, Susan G
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medicine.medical_specialty ,lcsh:BF1-990 ,Psychological intervention ,Settore M-PSI/08 - PSICOLOGIA CLINICA ,Review ,03 medical and health sciences ,0302 clinical medicine ,psychological distress ,health psychology ,Chronic pain ,Clinical psychology ,Health psychology ,Neurorehabilitation ,Pain management ,Psychology (all) ,medicine ,Psychology ,psychology (all) ,030212 general & internal medicine ,General Psychology ,neurorehabilitation ,business.industry ,chronic pain ,clinical psychology ,pain management ,medicine.disease ,depression ,pain Treatment ,Settore MED/34 - Medicina Fisica e Riabilitativa ,lcsh:Psychology ,Migraine ,Physical therapy ,Anxiety ,Pain catastrophizing ,medicine.symptom ,business ,Psychosocial ,030217 neurology & neurosurgery ,clinical psychology, health psychology - Abstract
Background: In order to provide effective care to patients suffering from chronic pain secondary to neurological diseases, health professionals must appraise the role of the psychosocial factors in the genesis and maintenance of this condition whilst considering how emotions and cognitions influence the course of treatment. Furthermore, it is important not only to recognize the psychological reactions to pain that are common to the various conditions, but also to evaluate how these syndromes differ with regards to the psychological factors that may be involved. As an extensive evaluation of these factors is still lacking, the Italian Consensus Conference on Pain in Neurorehabilitation (ICCPN) aimed to collate the evidence available across these topics. Objectives: To determine the psychological factors which are associated with or predictive of pain secondary to neurological conditions and to assess the influence of these aspects on the outcome of neurorehabilitation. Methods: Two reviews were performed. In the first, a PUBMED search of the studies assessing the association between psychological factors and pain or the predictive value of these aspects with respect to chronic pain was conducted. The included papers were then rated with regards to their methodological quality and recommendations were made accordingly. In the second study, the same methodology was used to collect the available evidence on the predictive role of psychological factors on the therapeutic response to pain treatments in the setting of neurorehabilitation. Results: The first literature search identified 1170 results and the final database included 189 articles. Factors such as depression, anxiety, pain catastrophizing, coping strategies, and cognitive functions were found to be associated with pain across the various conditions. However, there are differences between chronic musculoskeletal pain, migraine, neuropathy, and conditions associated with complex disability with regards to the psychological aspects that are involved. The second PUBMED search yielded 252 studies, which were all evaluated. Anxiety, depression, pain catastrophizing, coping strategies, and pain beliefs were found to be associated to different degrees with the outcomes of multidisciplinary programs, surgery, physical therapies, and psychological interventions. Finally, sense of presence was found to be related to the effectiveness of virtual reality as a distraction tool. Conclusions: Several psychological factors are associated with pain secondary to neurological conditions and should be acknowledged and addressed in order to effectively treat this condition. These factors also predict the therapeutic response to the neurorehabilitative interventions. Background: In order to provide effective care to patients suffering from chronic pain secondary to neurological diseases, health professionals must appraise the role of the psychosocial factors in the genesis and maintenance of this condition whilst considering how emotions and cognitions influence the course of treatment. Furthermore, it is important not only to recognize the psychological reactions to pain that are common to the various conditions, but also to evaluate how these syndromes differ with regards to the psychological factors that may be involved. As an extensive evaluation of these factors is still lacking, the Italian Consensus Conference on Pain in Neurorehabilitation (ICCPN) aimed to collate the evidence available across these topics. Objectives: To determine the psychological factors which are associated with or predictive of pain secondary to neurological conditions and to assess the influence of these aspects on the outcome of neurorehabilitation. Methods: Two reviews were performed. In the first, a PUBMED search of the studies assessing the association between psychological factors and pain or the predictive value of these aspects with respect to chronic pain was conducted. The included papers were then rated with regards to their methodological quality and recommendations were made accordingly. In the second study, the same methodology was used to collect the available evidence on the predictive role of psychological factors on the therapeutic response to pain treatments in the setting of neurorehabilitation. Results: The first literature search identified 1170 results and the final database included 189 articles. Factors such as depression, anxiety, pain catastrophizing, coping strategies, and cognitive functions were found to be associated with pain across the various conditions. However, there are differences between chronic musculoskeletal pain, migraine, neuropathy, and conditions associated with complex disability with regards to the psychological aspects that are involved. The second PUBMED search yielded 252 studies, which were all evaluated. Anxiety, depression, pain catastrophizing, coping strategies, and pain beliefs were found to be associated to different degrees with the outcomes of multidisciplinary programs, surgery, physical therapies, and psychological interventions. Finally, sense of presence was found to be related to the effectiveness of virtual reality as a distraction tool. Conclusions: Several psychological factors are associated with pain secondary to neurological conditions and should be acknowledged and addressed in order to effectively treat this condition. These factors also predict the therapeutic response to the neurorehabilitative interventions.
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- 2016
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21. Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
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Westenberger A, Skrahina V, Usnich T, Beetz C, Vollstedt EJ, Laabs BH, Paul JJ, Curado F, Skobalj S, Gaber H, Olmedillas M, Bogdanovic X, Ameziane N, Schell N, Aasly JO, Afshari M, Agarwal P, Aldred J, Alonso-Frech F, Anderson R, Araújo R, Arkadir D, Avenali M, Balal M, Benizri S, Bette S, Bhatia P, Bonello M, Braga-Neto P, Brauneis S, Cardoso FEC, Cavallieri F, Classen J, Cohen L, Coletta D, Crosiers D, Cullufi P, Dashtipour K, Demirkiran M, de Carvalho Aguiar P, De Rosa A, Djaldetti R, Dogu O, Dos Santos Ghilardi MG, Eggers C, Elibol B, Ellenbogen A, Ertan S, Fabiani G, Falkenburger BH, Farrow S, Fay-Karmon T, Ferencz GJ, Fonoff ET, Fragoso YD, Genç G, Gorospe A, Grandas F, Gruber D, Gudesblatt M, Gurevich T, Hagenah J, Hanagasi HA, Hassin-Baer S, Hauser RA, Hernández-Vara J, Herting B, Hinson VK, Hogg E, Hu MT, Hummelgen E, Hussey K, Infante J, Isaacson SH, Jauma S, Koleva-Alazeh N, Kuhlenbäumer G, Kühn A, Litvan I, López-Manzanares L, Luxmore M, Manandhar S, Marcaud V, Markopoulou K, Marras C, McKenzie M, Matarazzo M, Merello M, Mollenhauer B, Morgan JC, Mullin S, Musacchio T, Myers B, Negrotti A, Nieves A, Nitsan Z, Oskooilar N, Öztop-Çakmak Ö, Pal G, Pavese N, Percesepe A, Piccoli T, Pinto de Souza C, Prell T, Pulera M, Raw J, Reetz K, Reiner J, Rosenberg D, Ruiz-Lopez M, Ruiz Martinez J, Sammler E, Santos-Lobato BL, Saunders-Pullman R, Schlesinger I, Schofield CM, Schumacher-Schuh AF, Scott B, Sesar Á, Shafer SJ, Sheridan R, Silverdale M, Sophia R, Spitz M, Stathis P, Stocchi F, Tagliati M, Tai YF, Terwecoren A, Thonke S, Tönges L, Toschi G, Tumas V, Urban PP, Vacca L, Vandenberghe W, Valente EM, Valzania F, Vela-Desojo L, Weill C, Weise D, Wojcieszek J, Wolz M, Yahalom G, Yalcin-Cakmakli G, Zittel S, Zlotnik Y, Kandaswamy KK, Balck A, Hanssen H, Borsche M, Lange LM, Csoti I, Lohmann K, Kasten M, Brüggemann N, Rolfs A, Klein C, and Bauer P
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- Humans, Male, Female, Middle Aged, Aged, Glucosylceramidase genetics, alpha-Synuclein genetics, Genetic Predisposition to Disease, Ubiquitin-Protein Ligases genetics, Cohort Studies, Protein Kinases genetics, Mutation, Adult, Parkinson Disease genetics, Genetic Testing methods, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 genetics
- Abstract
Estimates of the spectrum and frequency of pathogenic variants in Parkinson's disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has reached the clinical trial stage, a major obstacle in conducting these trials is that PD patients are largely unaware of their genetic status and, therefore, cannot be recruited. Expanding the number of investigated PD-related genes and including genes related to disorders with overlapping clinical features in large, well-phenotyped PD patient groups is a prerequisite for capturing the full variant spectrum underlying PD and for stratifying and prioritizing patients for gene-targeted clinical trials. The Rostock Parkinson's disease (ROPAD) study is an observational clinical study aiming to determine the frequency and spectrum of genetic variants contributing to PD in a large international cohort. We investigated variants in 50 genes with either an established relevance for PD or possible phenotypic overlap in a group of 12 580 PD patients from 16 countries [62.3% male; 92.0% White; 27.0% positive family history (FH+), median age at onset (AAO) 59 years] using a next-generation sequencing panel. Altogether, in 1864 (14.8%) ROPAD participants (58.1% male; 91.0% White, 35.5% FH+, median AAO 55 years), a PD-relevant genetic test (PDGT) was positive based on GBA1 risk variants (10.4%) or pathogenic/likely pathogenic variants in LRRK2 (2.9%), PRKN (0.9%), SNCA (0.2%) or PINK1 (0.1%) or a combination of two genetic findings in two genes (∼0.2%). Of note, the adjusted positive PDGT fraction, i.e. the fraction of positive PDGTs per country weighted by the fraction of the population of the world that they represent, was 14.5%. Positive PDGTs were identified in 19.9% of patients with an AAO ≤ 50 years, in 19.5% of patients with FH+ and in 26.9% with an AAO ≤ 50 years and FH+. In comparison to the idiopathic PD group (6846 patients with benign variants), the positive PDGT group had a significantly lower AAO (4 years, P = 9 × 10-34). The probability of a positive PDGT decreased by 3% with every additional AAO year (P = 1 × 10-35). Female patients were 22% more likely to have a positive PDGT (P = 3 × 10-4), and for individuals with FH+ this likelihood was 55% higher (P = 1 × 10-14). About 0.8% of the ROPAD participants had positive genetic testing findings in parkinsonism-, dystonia/dyskinesia- or dementia-related genes. In the emerging era of gene-targeted PD clinical trials, our finding that ∼15% of patients harbour potentially actionable genetic variants offers an important prospect to affected individuals and their families and underlines the need for genetic testing in PD patients. Thus, the insights from the ROPAD study allow for data-driven, differential genetic counselling across the spectrum of different AAOs and family histories and promote a possible policy change in the application of genetic testing as a routine part of patient evaluation and care in PD., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain.)
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- 2024
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22. Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale.
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Junker J, Lange LM, Vollstedt EJ, Roopnarain K, Doquenia MLM, Annuar AA, Avenali M, Bardien S, Bahr N, Ellis M, Galandra C, Gasser T, Heutink P, Illarionova A, Kanana Y, Keller Sarmiento IJ, Kumar KR, Lim SY, Madoev H, Mata IF, Mencacci NE, Nalls MA, Padmanabhan S, Shambetova C, Solle JC, Tan AH, Trinh J, Valente EM, Singleton A, Blauwendraat C, Lohmann K, Fang ZH, and Klein C
- Abstract
Background: Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at a global scale., Objective: To identify the multi-ancestry spectrum of monogenic PD., Methods: The first systematic approach to embrace monogenic PD worldwide, The Michael J. Fox Foundation Global Monogenic PD Project, contacted authors of publications reporting individuals carrying pathogenic variants in known PD-causing genes. In contrast, the Global Parkinson's Genetics Program's Monogenic Network took a different approach by targeting PD centers underrepresented or not yet represented in the medical literature., Results: In this article, we describe combining both efforts in a merger project resulting in a global monogenic PD cohort with the buildup of a sustainable infrastructure to identify the multi-ancestry spectrum of monogenic PD and enable studies of factors modifying penetrance and expressivity of monogenic PD., Conclusions: This effort demonstrates the value of future research based on team science approaches to generate comprehensive and globally relevant results. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society., (© 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)
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- 2024
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23. Serum dysregulation of serine and glycine metabolism as predictive biomarker for cognitive decline in frail elderly subjects.
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Imarisio A, Yahyavi I, Gasparri C, Hassan A, Avenali M, Di Maio A, Buongarzone G, Galandra C, Picascia M, Filosa A, Monti MC, Pacchetti C, Errico F, Rondanelli M, Usiello A, and Valente EM
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- Humans, Male, Aged, Female, Aged, 80 and over, Frailty blood, Serine blood, Glycine blood, Biomarkers blood, Cognitive Dysfunction blood, Frail Elderly
- Abstract
Frailty is a common age-related clinical syndrome characterized by a decline in the function of multiple organ systems, increased vulnerability to stressors, and a huge socio-economic burden. Despite recent research efforts, the physiopathological mechanisms underlying frailty remain elusive and biomarkers able to predate its occurrence in the early stages are still lacking. Beyond its physical component, cognitive decline represents a critical domain of frailty associated with higher risk of adverse health outcomes. We measured by High-Performance Liquid Chromatography (HPLC) a pool of serum amino acids including L-glutamate, L-aspartate, glycine, and D-serine, as well as their precursors L-glutamine, L-asparagine, and L-serine in a cohort of elderly subjects encompassing the entire continuum from fitness to frailty. These amino acids are known to orchestrate excitatory and inhibitory neurotransmission, and in turn, to play a key role as intermediates of energy homeostasis and in liver, kidney, muscle, and immune system metabolism. To comprehensively assess frailty, we employed both the Edmonton Frail Scale (EFS), as a practical tool to capture the multidimensionality of frailty, and the frailty phenotype, as a measure of physical function. We found that D-serine and D-/Total serine ratio were independent predictors of EFS but not of physical frailty. Furthermore, higher levels of glycine, glycine/L-serine and D-/Total serine were associated with worse cognition and depressive symptoms in the frail group. These findings suggest that changes in peripheral glycine and serine enantiomers homeostasis may represent a novel biochemical correlate of frailty., (© 2024. The Author(s).)
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- 2024
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24. Exploring the neural and behavioral correlates of cognitive telerehabilitation in mild cognitive impairment with three distinct approaches.
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Caminiti SP, Bernini S, Bottiroli S, Mitolo M, Manca R, Grillo V, Avenali M, De Icco R, Capellari S, Carlesimo GA, Venneri A, and Tassorelli C
- Abstract
Background: Currently, the impact of drug therapies on neurodegenerative conditions is limited. Therefore, there is a strong clinical interest in non-pharmacological interventions aimed at preserving functionality, delaying disease progression, reducing disability, and improving quality of life for both patients and their caregivers. This longitudinal multicenter Randomized Controlled Trial (RCT) applies three innovative cognitive telerehabilitation (TR) methods to evaluate their impact on brain functional connectivity reconfigurations and on the overall level of cognitive and everyday functions., Methods: We will include 110 participants with mild cognitive impairment (MCI). Fifty-five participants will be randomly assigned to the intervention group who will receive cognitive TR via three approaches, namely: (a) Network-based Cognitive Training (NBCT), (b) Home-based Cognitive Rehabilitation (HomeCoRe), or (c) Semantic Memory Rehabilitation Training (SMRT). The control group ( n = 55) will receive an unstructured home-based cognitive stimulation. The rehabilitative program will last either 4 (NBTC) or 6 weeks (HomeCoRe and SMRT), and the control condition will be adapted to each TR intervention. The effects of TR will be tested in terms of Δ connectivity change, obtained from high-density electroencephalogram (HD-EEG) or functional magnetic resonance imaging at rest (rs-fMRI), acquired before (T0) and after (T1) the intervention. All participants will undergo a comprehensive neuropsychological assessment at four time-points: baseline (T0), within 2 weeks (T1), and after 6 (T2) and 12 months (T3) from the end of TR., Discussion: The results of this RCT will identify a potential association between improvement in performance induced by individual cognitive TR approaches and modulation of resting-state brain connectivity. The knowledge gained with this study might foster the development of novel TR approaches underpinned by established neural mechanisms to be validated and implemented in clinical practice. Clinical trial registration: [https://classic.clinicaltrials.gov/ct2/show/NCT06278818], identifier [NCT06278818]., Competing Interests: The authors declare that the research will be conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (Copyright © 2024 Caminiti, Bernini, Bottiroli, Mitolo, Manca, Grillo, Avenali, De Icco, Capellari, Carlesimo, Venneri and Tassorelli.)
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- 2024
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25. Functional Study of SNCA p.V15A Variant: Further Linking α-Synuclein and Glucocerebrosidase.
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Avenali M, Cerri S, Palmieri I, Ongari G, Stiuso R, Buongarzone G, Tassorelli C, Biagini T, Valente M, Cereda C, Mazza T, Gana S, Pacchetti C, and Valente EM
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- Humans, Male, Middle Aged, Female, Leukocytes, Mononuclear metabolism, Pedigree, Mutation genetics, Aged, alpha-Synuclein metabolism, alpha-Synuclein genetics, Glucosylceramidase genetics, Parkinson Disease genetics, Parkinson Disease metabolism
- Abstract
Background: SNCA p.V15A was reported in five families. In vitro models showed increased aggregation and seeding activity, mitochondrial damage, and apoptosis. Mutant flies had reduced flying ability and survival., Objectives: To clinically and functionally evaluate SNCA p.V15A in a large Italian family with Parkinson's disease (PD)., Methods: Genetic diagnosis was reached through next-generation sequencing. Pathogenicity was assessed by molecular dynamics simulation and biochemical studies on peripheral blood mononuclear cells (PBMCs)., Results: Five siblings carried SNCA p.V15A; three developed bradykinetic-rigid PD in their 50s with rapid motor progression and variable cognitive impairment. A fourth sibling had isolated mood disturbance, whereas the fifth was still unaffected at age 47. The mutant protein showed decreased stability and an unstable folded structure. Proband's PBMCs showed elevated total and phosphorylated α-synuclein (α-syn) levels and significantly reduced glucocerebrosidase activity., Conclusion: This study demonstrates accumulation of α-syn
V15A in PBMCs and strengthens the link between α-syn pathophysiology and glucocerebrosidase dysfunction. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society., (© 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)- Published
- 2024
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26. Understanding monogenic Parkinson's disease at a global scale.
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Junker J, Lange LM, Vollstedt EJ, Roopnarain K, Doquenia MLM, Annuar AA, Avenali M, Bardien S, Bahr N, Ellis M, Galandra C, Gasser T, Heutink P, Illarionova A, Kanana Y, Keller Sarmiento IJ, Kumar KR, Lim SY, Madoev H, Mata IF, Mencacci NE, Nalls MA, Padmanabhan S, Shambetova C, Solle J, Tan AH, Trinh J, Valente EM, Singleton A, Blauwendraat C, Lohmann K, Fang ZH, and Klein C
- Abstract
Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at global scale. The first systematic approach to embrace monogenic PD worldwide, The Michael J. Fox Foundation Global Monogenic PD (MJFF GMPD) Project, contacted authors of publications reporting individuals carrying pathogenic variants in known PD-causing genes. In contrast, the Global Parkinson's Genetics Program's (GP2) Monogenic Network took a different approach by targeting PD centers not yet represented in the medical literature. Here, we describe combining both efforts in a "merger project" resulting in a global monogenic PD cohort with build-up of a sustainable infrastructure to identify the multi-ancestry spectrum of monogenic PD and enable studies of factors modifying penetrance and expression of monogenic PD. This effort demonstrates the value of future research based on team science approaches to generate comprehensive and globally relevant results.
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- 2024
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27. The role of stroke-induced immunosuppression as a predictor of functional outcome in the neurorehabilitation setting.
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Vaghi G, Morotti A, Piella EM, Avenali M, Martinelli D, Cristina S, Allena M, Grillo V, Corrado M, Bighiani F, Cammarota F, Antoniazzi A, Ferrari F, Mazzacane F, Cavallini A, Pichiecchio A, Rognone E, Martinis L, Correale L, Castiglia SF, Trabassi D, Serrao M, Tassorelli C, and De Icco R
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- Female, Humans, Male, Immunosuppression Therapy, Lymphocytes, Neutrophils, Treatment Outcome, Prospective Studies, Neurological Rehabilitation, Stroke, Stroke Rehabilitation
- Abstract
Stroke affects the interconnection between the nervous and immune systems, leading to a down-regulation of immunity called stroke-induced immunosuppression (SII). The primary aim of this study is to investigate SII role as a predictor of functional, neurological, and motor outcomes in the neurorehabilitation setting (NRB). We conducted a prospective observational study enrolling post-acute stroke patients hospitalized for neurorehabilitation. At NRB admission (T
0 ) and discharge (T1 ), we assessed presence of SII (defined by a neutrophil-to-lymphocyte ratio ≥ 5) and we evaluated functional independence (Functional Independence Measure-FIM, Barthel Index-BI), motor performances (Tinetti Score, Hauser Ambulation Index) and neurological impairment (NIHSS). We enrolled 96 patients (45.8% females, 70.6 ± 13.9 years, 88.5% ischemic stroke). At T0 , 15.6% of patients (15/96) had SII. When compared to immunocompetent patients (IC), the SII group was characterized by worse baseline functional independence, motor performances and neurological disability. The same was confirmed at T1 (FIM p = 0.012, BI p = 0.007, Tinetti p = 0.034, NIHSS p = 0.001). Neurological disability demonstrated a less pronounced improvement in SII (ΔNIHSS: SII: - 2.1 ± 2.3 vs. IC: - 3.1 ± 2.5, p = 0.035). SII group presented a higher percentage of infectious complications during the neurorehabilitation period (SII 80% vs. IC 25.9%; p = 0.001). SII may represent a negative prognostic factor in the neurorehabilitation setting. SII patients were characterized by poorer functional, motor, neurological performances and higher risk of infectious complications. ClinicaTrial registration: NCT05889169., (© 2024. The Author(s).)- Published
- 2024
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28. Are patients with GBA-Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort.
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Avenali M, Zangaglia R, Cuconato G, Palmieri I, Albanese A, Artusi CA, Bozzali M, Calandra-Buonaura G, Cavallieri F, Cilia R, Cocco A, Cogiamanian F, Colucci F, Cortelli P, Di Fonzo A, Eleopra R, Giannini G, Imarisio A, Imbalzano G, Ledda C, Lopiano L, Malaguti MC, Mameli F, Minardi R, Mitrotti P, Monfrini E, Spagnolo F, Tassorelli C, Valentino F, Valzania F, Pacchetti C, and Valente EM
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- Humans, Retrospective Studies, Italy, Parkinson Disease genetics, Parkinson Disease therapy, Parkinson Disease complications, Deep Brain Stimulation, Dyskinesias therapy, Dementia complications
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Background: GBA variants increase the risk of developing Parkinson disease (PD) and influence its outcome. Deep brain stimulation (DBS) is a recognised therapeutic option for advanced PD. Data on DBS long-term outcome in GBA carriers are scarce., Objective: To elucidate the impact of GBA variants on long-term DBS outcome in a large Italian cohort., Methods: We retrospectively recruited a multicentric Italian DBS-PD cohort and assessed: (1) GBA prevalence; (2) pre-DBS clinical features; and (3) outcomes of motor, cognitive and other non-motor features up to 5 years post-DBS., Results: We included 365 patients with PD, of whom 73 (20%) carried GBA variants. 5-year follow-up data were available for 173 PD, including 32 mutated subjects. GBA-PD had an earlier onset and were younger at DBS than non-GBA-PD. They also had shorter disease duration, higher occurrence of dyskinesias and orthostatic hypotension symptoms.At post-DBS, both groups showed marked motor improvement, a significant reduction of fluctuations, dyskinesias and impulsive-compulsive disorders (ICD) and low occurrence of most complications. Only cognitive scores worsened significantly faster in GBA-PD after 3 years. Overt dementia was diagnosed in 11% non-GBA-PD and 25% GBA-PD at 5-year follow-up., Conclusions: Evaluation of long-term impact of GBA variants in a large Italian DBS-PD cohort supported the role of DBS surgery as a valid therapeutic strategy in GBA-PD, with long-term benefit on motor performance and ICD. Despite the selective worsening of cognitive scores since 3 years post-DBS, the majority of GBA-PD had not developed dementia at 5-year follow-up., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2024
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29. Blood D-serine levels correlate with aging and dopaminergic treatment in Parkinson's disease.
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Imarisio A, Yahyavi I, Avenali M, Di Maio A, Buongarzone G, Galandra C, Picascia M, Filosa A, Gasparri C, Monti MC, Rondanelli M, Pacchetti C, Errico F, Valente EM, and Usiello A
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- Humans, Serine metabolism, Dopamine metabolism, Levodopa therapeutic use, Amino Acids, Glutamic Acid, Aging, Parkinson Disease drug therapy, Parkinson Disease metabolism
- Abstract
We recently described increased D- and L-serine concentrations in the striatum of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-treated monkeys, the post-mortem caudate-putamen of human Parkinson's disease (PD) brains and the cerebrospinal fluid (CSF) of de novo living PD patients. However, data regarding blood D- and L-serine levels in PD are scarce. Here, we investigated whether the serum profile of D- and L-serine, as well as the other glutamate N-methyl-D-aspartate ionotropic receptor (NMDAR)-related amino acids, (i) differs between PD patients and healthy controls (HC) and (ii) correlates with clinical-demographic features and levodopa equivalent daily dose (LEDD) in PD. Eighty-three consecutive PD patients and forty-one HC were enrolled. PD cohort underwent an extensive clinical characterization. Serum levels of D- and L-serine, L-glutamate, L-glutamine, L-aspartate, L-asparagine and glycine were determined using High Performance Liquid Chromatography. In age- and sex-adjusted analyses, no differences emerged in the serum levels of D-serine, L-serine and other NMDAR-related amino acids between PD and HC. However, we found that D-serine and D-/Total serine ratio positively correlated with age in PD but not in HC, and also with PD age at onset. Moreover, we found that higher LEDD correlated with lower levels of D-serine and the other excitatory amino acids. Following these results, the addition of LEDD as covariate in the analyses disclosed a selective significant increase of D-serine in PD compared to HC (Δ ≈ 38%). Overall, these findings suggest that serum D-serine and D-/Total serine may represent a valuable biochemical signature of PD., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Enza Maria Valente reports financial support was provided by Cariplo Foundation. Enza Maria Valente reports financial support was provided by Ministry of Health. Alessandro Usiello reports financial support was provided by Minister of University and Research. Micol Avenali reports a relationship with Aligning Science Across Parkinson's that includes: board membership. Micol Avenali reports a relationship with Bial that includes: speaking and lecture fees. Micol Avenali reports a relationship with Zambon SpA that includes: speaking and lecture fees. Micol Avenali reports a relationship with Ministry of Health that includes: funding grants. Enza Maria Valente reports a relationship with Aligning Science Across Parkinson's that includes: board membership and funding grants. Enza Maria Valente reports a relationship with Ministry of Health that includes: funding grants. Enza Maria Valente reports a relationship with Telethon Foundation that includes: funding grants. Enza Maria Valente reports a relationship with Pierfranco and Luisa Mariani Foundation that includes: funding grants. Enza Maria Valente reports a relationship with European Commission (Era-net Neuron) that includes: funding grants. Enza Maria Valente is Associate Editor of Journal of Medical Genetics; is Genetics Section Editor of Pediatric Research, of The Cerebellum, and of Neurological Sciences; is member of the Editorial Board of Movement Disorders Clinical Practice. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023. Published by Elsevier Inc.)
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- 2024
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30. Impaired Mitochondrial Respiration in REM-Sleep Behavior Disorder: A Biomarker of Parkinson's Disease?
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Ongari G, Ghezzi C, Di Martino D, Pisani A, Terzaghi M, Avenali M, Valente EM, Cerri S, and Blandini F
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- Humans, Respiration, Biomarkers, Sleep, Parkinson Disease, REM Sleep Behavior Disorder etiology, REM Sleep Behavior Disorder complications
- Abstract
Background: Idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) is associated with prodromal Parkinson's disease (PD), but the mechanisms linking phenoconversion of iRBD to PD have not yet been clarified. Considering the association between mitochondrial dysfunction and sleep disturbances in PD, we explored mitochondrial activity in fibroblasts derived from iRBD patients to identify a biochemical profile that could mark the presence of impending neurodegeneration., Methods: The study involved 28 participants, divided into three groups: patients diagnosed with iRBD, PD patients converted from iRBD (RBD-PD), and healthy controls. We performed a comprehensive assessment of mitochondrial function, including an examination of mitochondrial morphology, analysis of mitochondrial protein expression levels by western blot, and measurement of mitochondrial respiration using the Seahorse XFe24 analyzer., Results: In basal conditions, mitochondrial respiration did not differ between iRBD and control fibroblasts, but when cells were challenged with a higher energy demand, iRBD fibroblasts exhibited a significant (P = 0.006) drop in maximal and spare respiration compared to controls. Interestingly, RBD-PD patients showed the same alterations with a further significant reduction in oxygen consumption linked to adenosine triphosphate production (P = 0.032). Moreover, RBD-PD patients exhibited a significant decrease in protein levels of complexes III (P = 0.02) and V (P = 0.002) compared to controls, along with fragmentation of the mitochondrial network. iRBD patients showed similar, but milder alterations., Conclusions: Altogether, these findings suggest that mitochondrial dysfunctions in individuals with iRBD might predispose to worsening of the bioenergetic profile observed in RBD-PD patients, highlighting these alterations as potential predictors of phenoconversion to PD. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society., (© 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)
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- 2024
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31. Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
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Di Fonzo A, Percetti M, Monfrini E, Palmieri I, Albanese A, Avenali M, Bartoletti-Stella A, Blandini F, Brescia G, Calandra-Buonaura G, Campopiano R, Capellari S, Colangelo I, Comi GP, Cuconato G, Ferese R, Galandra C, Gambardella S, Garavaglia B, Gaudio A, Giardina E, Invernizzi F, Mandich P, Mineri R, Panteghini C, Reale C, Trevisan L, Zampatti S, Cortelli P, and Valente EM
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- Humans, Middle Aged, Adult, Retrospective Studies, Mutation, Genetic Testing, Age of Onset, Parkinson Disease diagnosis, Parkinson Disease genetics
- Abstract
Background and Objective: Early-onset Parkinson's disease (EOPD) commonly recognizes a genetic basis; thus, patients with EOPD are often addressed to diagnostic testing based on next-generation sequencing (NGS) of PD-associated multigene panels. However, NGS interpretation can be challenging in a diagnostic setting, and few studies have addressed this issue so far., Methods: We retrospectively collected data from 648 patients with PD with age at onset younger than 55 years who underwent NGS of a minimal shared panel of 15 PD-related genes, as well as PD-multiplex ligation-dependent probe amplification in eight Italian diagnostic laboratories. Data included a minimal clinical dataset, the complete list of variants included in the diagnostic report, and final interpretation (positive/negative/inconclusive). Patients were further stratified based on age at onset ≤40 years (very EOPD, n = 157). All variants were reclassified according to the latest American College of Medical Genetics and Genomics criteria. For classification purposes, PD-associated GBA1 variants were considered diagnostic., Results: In 186 of 648 (29%) patients, the diagnostic report listed at least one variant, and the outcome was considered diagnostic (positive) in 105 (16%). After reanalysis, diagnosis changed in 18 of 186 (10%) patients, with 5 shifting from inconclusive to positive and 13 former positive being reclassified as inconclusive. A definite diagnosis was eventually reached in 97 (15%) patients, of whom the majority carried GBA1 variants or, less frequently, biallelic PRKN variants. In 89 (14%) cases, the genetic report was inconclusive., Conclusions: This study attempts to harmonize reporting of PD genetic testing across several diagnostic labs and highlights current difficulties in interpreting genetic variants emerging from NGS-multigene panels, with relevant implications for counseling. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society., (© 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)
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- 2023
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32. Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment in GBA -associated Parkinson's disease: a multicentre, randomised, double-blind, placebo-controlled, phase II trial. The AMBITIOUS study protocol.
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Colucci F, Avenali M, De Micco R, Fusar Poli M, Cerri S, Stanziano M, Bacila A, Cuconato G, Franco V, Franciotta D, Ghezzi C, Gastaldi M, Elia AE, Romito L, Devigili G, Leta V, Garavaglia B, Golfrè Andreasi N, Cazzaniga F, Reale C, Galandra C, Germani G, Mitrotti P, Ongari G, Palmieri I, Picascia M, Pichiecchio A, Verri M, Esposito F, Cirillo M, Di Nardo F, Aloisio S, Siciliano M, Prioni S, Amami P, Piacentini S, Bruzzone MG, Grisoli M, Moda F, Eleopra R, Tessitore A, Valente EM, and Cilia R
- Abstract
Background: Heterozygous mutations in the GBA gene, encoding the lysosomal enzyme β-glucocerebrosidase (GCase), are the most frequent genetic risk factor for Parkinson's disease (PD). GBA -related PD (GBA-PD) patients have higher risk of dementia and reduced survival than non-carriers. Preclinical studies and one open-label trial in humans demonstrated that the chaperone ambroxol (ABX) increases GCase levels and modulates α-synuclein levels in the blood and cerebrospinal fluid (CSF)., Methods and Analysis: In this multicentre, double-blind, placebo-controlled, phase II clinical trial, we randomise patients with GBA-PD in a 1:1 ratio to either oral ABX 1.2 g/day or placebo. The duration of treatment is 52 weeks. Each participant is assessed at baseline and weeks 12, 26, 38, 52 and 78. Changes in the Montreal Cognitive Assessment score and the frequency of mild cognitive impairment and dementia between baseline and weeks 52 are the primary outcome measures. Secondary outcome measures include changes in validated scales/questionnaires assessing motor and non-motor symptoms. Neuroimaging features and CSF neurodegeneration markers are used as surrogate markers of disease progression. GCase activity, ABX and α-synuclein levels are also analysed in blood and CSF. A repeated-measures analysis of variance will be used for elaborating results. The primary analysis will be by intention to treat., Ethics and Dissemination: The study and protocols have been approved by the ethics committee of centres. The study is conducted according to good clinical practice and the Declaration of Helsinki. The trial findings will be published in peer-reviewed journals and presented at conferences., Trial Registration Numbers: NCT05287503, EudraCT 2021-004565-13., Competing Interests: Competing interests: RC has received speaking honoraria from Zambon Italia; Zambon SAU; Bial Italia Srl; advisory board fees from Bial; research support from the Italian Ministry of Health; he is Editor-in-Chief of the neuromuscular and movement disorders section of Brain Sciences (MDPI); Associate Editor of Parkinsonism and Related Disorders (Elsevier) and Frontiers in Ageing Neuroscience., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2023
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33. Author Correction: Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).
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Lange LM, Avenali M, Ellis M, Illarionova A, Keller Sarmiento IJ, Tan AH, Madoev H, Galandra C, Junker J, Roopnarain K, Solle J, Wegel C, Fang ZH, Heutink P, Kumar KR, Lim SY, Valente EM, Nalls M, Blauwendraat C, Singleton A, Mencacci N, Lohmann K, and Klein C
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- 2023
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34. Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).
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Lange LM, Avenali M, Ellis M, Illarionova A, Keller Sarmiento IJ, Tan AH, Madoev H, Galandra C, Junker J, Roopnarain K, Solle J, Wegel C, Fang ZH, Heutink P, Kumar KR, Lim SY, Valente EM, Nalls M, Blauwendraat C, Singleton A, Mencacci N, Lohmann K, and Klein C
- Abstract
The Monogenic Network of the Global Parkinson's Genetics Program (GP2) aims to create an efficient infrastructure to accelerate the identification of novel genetic causes of Parkinson's disease (PD) and to improve our understanding of already identified genetic causes, such as reduced penetrance and variable clinical expressivity of known disease-causing variants. We aim to perform short- and long-read whole-genome sequencing for up to 10,000 patients with parkinsonism. Important features of this project are global involvement and focusing on historically underrepresented populations., (© 2023. The Author(s).)
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- 2023
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35. Parkinson disease following COVID-19: Report of six cases.
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Calculli A, Bocci T, Porcino M, Avenali M, Casellato C, Arceri S, Regalbuto S, Priori A, and Pisani A
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- Humans, SARS-CoV-2, Pandemics, COVID-19 complications, Parkinson Disease complications, Nervous System Diseases
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Background and Purpose: Core clinical manifestations of COVID-19 include influenza-like and respiratory symptoms. However, it is now evident that neurological involvement may occur during SARS-CoV-2 infection, covering an extensive spectrum of phenotypical manifestations. A major challenge arising from this pandemic is represented by detecting emerging neurological complications following recovery from SARS-CoV-2 infection. To date, a few post-COVID-19-infected subjects diagnosed with Parkinson disease (PD) have been described, raising the possibility of a connection between the infection and neurodegenerative processes. Here, we describe a case series of six subjects who developed PD after COVID-19., Methods: Patients were observed at Scientific Institute for Research and Health Care Mondino Foundation Hospital, Pavia (Italy), and San Paolo University Hospital of Milan (Italy) between March 2021 and June 2022. In all subjects, SARS-CoV-2 infection was confirmed by means of reverse transcriptase polymerase chain reaction from a nasopharyngeal swab. Subjects underwent an accurate neurological evaluation, and neuroimaging studies were performed., Results: We describe six subjects who developed PD with an average time window after SARS-CoV-2 infection of 4-7 weeks. Apparently, no relationship with COVID-19 severity emerged, and no overt structural brain abnormalities were found. All subjects experienced unilateral resting tremor at onset and showed a satisfactory response to dopaminergic treatment., Conclusions: Immune responses to SARS-CoV-2 infection have been shown to shape the individual susceptibility to develop long-term consequences. We hypothesize that, in these subjects, COVID-19 has unmasked a latent neurodegenerative process. Characterization of the neuroinflammatory signatures in larger cohorts is warranted, which might provide novel insights into the pathogenesis of PD., (© 2023 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)
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- 2023
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36. Who is at Risk of Parkinson Disease? Refining the Preclinical Phase of GBA1 and LRRK2 Variant Carriers: a Clinical, Biochemical, and Imaging Approach.
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Menozzi E, Schapira AHV, Blandini F, and Avenali M
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- Humans, Glucosylceramidase genetics, Heterozygote, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 genetics, Leukocytes, Mononuclear, Longitudinal Studies, Mutation, Prodromal Symptoms, Parkinson Disease diagnostic imaging, Parkinson Disease genetics
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Purpose of Review: Genetic variants in GBA1 and LRRK2 genes are the commonest genetic risk factor for Parkinson disease (PD); however, the preclinical profile of GBA1 and LRRK2 variant carriers who will develop PD is unclear. This review aims to highlight the more sensitive markers that can stratify PD risk in non-manifesting GBA1 and LRRK2 variant carriers., Recent Findings: Several case-control and a few longitudinal studies evaluated clinical, biochemical, and neuroimaging markers within cohorts of non-manifesting carriers of GBA1 and LRRK2 variants. Despite similar levels of penetrance of PD in GBA1 and LRRK2 variant carriers (10-30%), these individuals have distinct preclinical profiles. GBA1 variant carriers at higher risk of PD can present with prodromal symptoms suggestive of PD (hyposmia), display increased α-synuclein levels in peripheral blood mononuclear cells, and show dopamine transporter abnormalities. LRRK2 variant carriers at higher risk of PD might show subtle motor abnormalities, but no prodromal symptoms, higher exposure to some environmental factors (non-steroid anti-inflammatory drugs), and peripheral inflammatory profile. This information will help clinicians tailor appropriate screening tests and counseling and facilitate researchers in the development of predictive markers, disease-modifying treatments, and selection of healthy individuals who might benefit from preventive interventions., (© 2023. The Author(s).)
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- 2023
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37. Outcomes of a computer-based cognitive training (CoRe) in early phases of cognitive decline: a data-driven cluster analysis.
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Bernini S, Gerbasi A, Panzarasa S, Quaglini S, Ramusino MC, Costa A, Avenali M, Tassorelli C, Vecchi T, and Bottiroli S
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- Humans, Cognition, Cluster Analysis, Neuropsychological Tests, Cognitive Training, Cognitive Dysfunction
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The present study aimed to identify clusters of cognitive profiles as well as to explore the effects of these clusters on demographic/individual characteristics and on improvements after a computer-based cognitive training (CCT) in early cognitive impairment. Fifty-seven subjects underwent to an adaptive CCT for 3 weeks (4 individual face-to-face sessions/week of 45 min) and were evaluated at baseline (T0), post-intervention (T1), and after 6 (T2) and 12 (T3) months. Clusters of cognitive profiles were explored with k-means analysis. The analysis revealed two clusters, which were composed by 27 and 30 patients characterized by lower (Cluster 1) and higher (Cluster 2) cognitive functioning. At T1, cognitive performance improved in both groups, but Cluster 1 gained more benefits in global cognitive functioning than Cluster 2. However, at T3, Cluster 2 remained stable in its clinical condition, whereas Cluster 1 showed a pronounced worsening. In conclusion, Cluster 1 profile was associated with a more marked but also short-lasting responsiveness to CCT, whereas patients fitting with Cluster 2 characteristics seemed to obtain more CCT benefits in terms of stability or even delay of cognitive/functional decline. These findings may have relevant implications in informing the timing and modality of delivery of CCT., (© 2023. The Author(s).)
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- 2023
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38. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
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Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tumas V, Zhang BR, Garraux G, Chung SJ, Kim YJ, Winkelmann J, Sue CM, Tan EK, Damásio J, Klivényi P, Kostic VS, Arkadir D, Martikainen M, Borges V, Hertz JM, Brighina L, Spitz M, Suchowersky O, Riess O, Das P, Mollenhauer B, Gatto EM, Petersen MS, Hattori N, Wu RM, Illarioshkin SN, Valente EM, Aasly JO, Aasly A, Alcalay RN, Thaler A, Farrer MJ, Brockmann K, Corvol JC, and Klein C
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- Humans, Mutation, Parkinson Disease genetics
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Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited., Objective: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD., Methods: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype-phenotype relationships were analyzed., Results: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published., Conclusions: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene-targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society., (© 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)
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- 2023
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39. A narrative review on the role and main findings of the Videofluoroscopic Study of Swallowing in Parkison's disease.
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Barbiera F, Cosentino G, La Seta F, Vetrano E, Murmura B, Avenali M, Alfonsi E, and Tassorelli C
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- Humans, Deglutition physiology, Fluoroscopy methods, Deglutition Disorders diagnostic imaging, Deglutition Disorders etiology, Parkinson Disease complications, Parkinson Disease diagnostic imaging
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Purpose: Dysphagia is a common symptom in patients with Parkinson's disease (PD), though it may go undiagnosed until severe complications arise. Dysphagia can be suspected on a clinical basis, but an instrumental assessment is mandatory to confirm its presence and evaluate pathophysiological aspects and severity of the swallowing impairment. Aim of this review is to inform the clinician and the radiologist on the importance and the main radiological findings of the Video-Fluoroscopic-Swallow-Study (VFSS) in patients with PD starting from the most recent literature data on the topic., Materials and Methods: Databases analysis identified 98 papers (January 2000/October 2022) of which 55 were excluded after reading title, abstract and full-text. After evaluation of the selected articles and their references 7 additional papers were added., Results: Fifty papers were reviewed to answer the following four main questions: Should VFSS be routinely used to screen dysphagia? Compared to other diagnostic tools, what is the role of VFSS in PD patients with suspected dysphagia? What are the main VFSS findings and technical expedients ? What is the role of VFSS in the choice of the best treatment strategy ?, Conclusions: VFSS represents a gold standard technique in the diagnostic evaluation of dysphagia in PD, having a fundamental role in the identification of patients with high risk of aspiration pneumonia and also being extremely helpful to guide to the choice of treatment strategies for dysphagia., (© 2022. Italian Society of Medical Radiology.)
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- 2023
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40. Harmonic ratio is the most responsive trunk-acceleration derived gait index to rehabilitation in people with Parkinson's disease at moderate disease stages.
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Castiglia SF, Trabassi D, De Icco R, Tatarelli A, Avenali M, Corrado M, Grillo V, Coppola G, Denaro A, Tassorelli C, and Serrao M
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- Acceleration, Gait, Humans, Walking, Walking Speed, Parkinson Disease rehabilitation
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Background: Harmonic ratios (HRs), recurrence quantification analysis in the antero-posterior direction (RQA
detAP ), and stride length coefficient of variation (CV) have recently been shown to characterize gait abnormalities and fall risk in people with Parkinson's disease (pwPD) at moderate disease stages., Research Question: This study aimed to i) assess the internal and external responsiveness to rehabilitation of HR, RQAdetAP , and CV, ii) identify the baseline predictors of normalization of the gait stability indexes, and iii) investigate the correlations between the gait indexes modifications (∆) and clinical and kinematic ∆s in pwPD at Hoehn and Yahr disease staging classification 3., Methods: The trunk acceleration patterns of 21 pwPD and 21 age- and speed-matched healthy subjects (HSmatched) were acquired during gait using an inertial measurement unit at baseline (T0). pwPD were also assessed after a 4-week rehabilitation period (T1). Each participant's HR in the antero-posterior (HRAP ), medio-lateral (HRML ), and vertical directions, RQAdetAP , CV, spatio-temporal, and kinematic variables were calculated., Results: At T1, HRAP and HRML improved to normative values and showed high internal and external responsiveness. Lower HRs and higher pelvic rotation values at baseline were predictors of ∆HRs. A minimal clinically important difference (MCID) ≥ 21.5 % is required to normalize HRAP with 95 % probability. MCID ≥ 36.9 % is required to normalize HRML with 92 % probability. ∆HRAP correlated with ∆HRML and both correlated with ∆stride length and ∆pelvic rotation, regardless of ∆gait speed. RQAdetAP and step length CV were not responsive to rehabilitation., Significance: When using inertial measurement units, HRAP and HRML can be considered as responsive outcome measures for assessing the effectiveness of rehabilitation on trunk smoothness during walking in pwPD at moderate disease stages., Competing Interests: Conflict of interest statement The authors declare no conflicts of interest., (Copyright © 2022 Elsevier B.V. All rights reserved.)- Published
- 2022
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41. From DYMUS to DYPARK: Validation of a Screening Questionnaire for Dysphagia in Parkinson's Disease.
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Dagna C, Avenali M, De Icco R, Gandolfi M, Solaro C, Restivo D, Bartolo M, Meneghello F, Sandrini G, and Tassorelli C
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- Deglutition, Humans, Sensitivity and Specificity, Surveys and Questionnaires, Deglutition Disorders diagnosis, Deglutition Disorders etiology, Multiple Sclerosis, Parkinson Disease complications, Parkinson Disease diagnosis
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Dysphagia is a common debilitating symptom in people with Parkinson's Disease (PD), adequate screening of swallowing disorders is fundamental. The DYMUS questionnaire has shown very good characteristics for the screening of dysphagia in Multiple Sclerosis, and it might also prove useful for screening dysphagia in PD. The primary aim was to test and validate the DYMUS questionnaire in PD patients. This is an observational multicentric study involving 103 patients affected by PD. All subjects filled in the DYMUS and the Eating Assessment Tool (EAT-10) questionnaires. A subgroup of patients (n = 53) underwent a fiber-optic endoscopic evaluation of swallowing (FEES) and their dysphagia was scored by means of the Dysphagia Outcome Severity Scale (DOSS). DYMUS showed a relatively high level of internal consistency (Cronbach's alpha 0.79). A significant positive correlation was found between the DYMUS and the EAT-10 scores (p < 0.001), while a negative correlation was found between the DYMUS and the DOSS scores (p < 0.001). DYMUS showed a good sensitivity and specificity compared to FEES for detecting dysphagia (area under the curve: 0.82, p < 0.001). The ROC curve analysis showed that a DYMUS score ≥ 6 represents a reliable cut-off for the risk of dysphagia. The DYMUS questionnaire proved to be a reliable screening tool to detect dysphagia in patients suffering from PD. It is easy to understand, it can be self-administered and therefore adequate for adoption in the clinical practice with the more convenient name of DYPARK., (© 2021. The Author(s).)
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- 2022
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42. Pearls & Oy-sters: Marionette Walk in Parkinson Disease: A Rare Dyskinetic-Dystonic Gait Pattern Complication Improved by Visual Cueing.
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Avenali M, Vaghi G, De Icco R, Grillo V, Susca C, Giudice C, Putortì A, Barnabei R, Allena M, and Tassorelli C
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- Humans, Middle Aged, Gait, Cues, Parkinson Disease complications, Parkinson Disease drug therapy, Parkinson Disease rehabilitation, Gait Disorders, Neurologic rehabilitation
- Abstract
We report a case of a 60-year-old patient with a 10-year history of Parkinson disease who developed a dyskinetic-dystonic gait pattern highly affecting his personal and social life. After multiple unsuccessful attempts to improve the clinical condition by adapting the pharmacologic treatment, the patient underwent gait rehabilitation based on the use of visual cueing. This approach induced a relevant improvement in the dyskinetic-dystonic gait. Our case contributes to the phenotypic description of motor fluctuations in advanced Parkinson disease and suggests an additional therapeutic option to mitigate their impact on motor performances., (© 2022 American Academy of Neurology.)
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- 2022
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43. Non-Invasive Neuromodulation in the Rehabilitation of Pisa Syndrome in Parkinson's Disease: A Randomized Controlled Trial.
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De Icco R, Putortì A, Allena M, Avenali M, Dagna C, Martinelli D, Cristina S, Grillo V, Fresia M, Bitetto V, Cosentino G, Valentino F, Alfonsi E, Sandrini G, Pisani A, and Tassorelli C
- Abstract
Background: Pisa syndrome (PS) is a frequent postural complication of Parkinson's disease (PD). PS poorly responds to anti-parkinsonian drugs and the improvement achieved with neurorehabilitation tends to fade in 6 months or less. Transcranial direct current stimulation (t-DCS) is a non-invasive neuromodulation technique that showed promising results in improving specific symptoms in different movement disorders., Objectives: This study aimed to evaluate the role of bi-hemispheric t-DCS as an add-on to a standardized hospital rehabilitation program in the management of PS in PD., Methods: This study included 28 patients with PD and PS (21 men, aged 72.9 ± 5.1 years) who underwent a 4-week intensive neurorehabilitation treatment and were randomized to receive: i) t-DCS (t-DCS group, n = 13) for 5 daily sessions (20 min-2 mA) with bi-hemispheric stimulation over the primary motor cortex (M1), or ii) sham stimulation (sham group, n = 15) with the same duration and cadence. At baseline (T0), end of rehabilitation (T1), and 6 months later (T2) patients were evaluated with both trunk kinematic analysis and clinical scales, including UPDRS-III, Functional Independence Measure (FIM), and Numerical Rating Scale for lumbar pain., Results: When compared to the sham group, the t-DCS group achieved a more pronounced improvement in several variables: overall posture ( p = 0.014), lateral trunk inclination ( p = 0.013) during upright standing position, total range of motion of the trunk ( p = 0.012), FIM score ( p = 0.048), and lumbar pain intensity ( p = 0.017)., Conclusions: Our data support the use of neuromodulation with t-DCS as an add-on to neurorehabilitation for the treatment of patients affected by PS in PD., Competing Interests: RD, APu, MAl, MAv, CD, DM, SC, VG, MF, VB, GC, FV, GS, and EA report no funding in the preceding 12 months. APi holds grants that are not related to the subject of the present study, and he reports no biomedical financial interests or potential conflicts of interest. CT received honoraria for their participation in advisory boards or for oral presentations from Allergan, ElectroCore, Eli-Lilly, Novartis, and Teva. CT has no ownership interest and does not own stocks of any pharmaceutical company. CT serves as Chief Section Editor of Frontiers in Neurology—Section Headache Medicine and Facial Pain and on the editorial board of The Journal of Headache and Pain., (Copyright © 2022 De Icco, Putortì, Allena, Avenali, Dagna, Martinelli, Cristina, Grillo, Fresia, Bitetto, Cosentino, Valentino, Alfonsi, Sandrini, Pisani and Tassorelli.)
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- 2022
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44. A multinational consensus on dysphagia in Parkinson's disease: screening, diagnosis and prognostic value.
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Cosentino G, Avenali M, Schindler A, Pizzorni N, Montomoli C, Abbruzzese G, Antonini A, Barbiera F, Benazzo M, Benarroch EE, Bertino G, Cereda E, Clavè P, Cortelli P, Eleopra R, Ferrari C, Hamdy S, Huckabee ML, Lopiano L, Marchese Ragona R, Masiero S, Michou E, Occhini A, Pacchetti C, Pfeiffer RF, Restivo DA, Rondanelli M, Ruoppolo G, Sandrini G, Schapira AHV, Stocchi F, Tolosa E, Valentino F, Zamboni M, Zangaglia R, Zappia M, Tassorelli C, and Alfonsi E
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- Deglutition, Humans, Italy, Prognosis, Quality of Life, Deglutition Disorders diagnosis, Deglutition Disorders etiology, Parkinson Disease complications, Parkinson Disease diagnosis
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Background: Parkinson's disease (PD) is a neurodegenerative disorder characterized by a combination of motor and non-motor dysfunction. Dysphagia is a common symptom in PD, though it is still too frequently underdiagnosed. Consensus is lacking on screening, diagnosis, and prognosis of dysphagia in PD., Objective: To systematically review the literature and to define consensus statements on the screening and the diagnosis of dysphagia in PD, as well as on the impact of dysphagia on the prognosis and quality of life (QoL) of PD patients., Methods: A multinational group of experts in the field of neurogenic dysphagia and/or PD conducted a systematic revision of the literature published since January 1990 to February 2021 and reported the results according to PRISMA guidelines. The output of the research was then analyzed and discussed in a consensus conference convened in Pavia, Italy, where the consensus statements were drafted. The final version of statements was subsequently achieved by e-mail consensus., Results: Eighty-five papers were used to inform the Panel's statements even though most of them were of Class IV quality. The statements tackled four main areas: (1) screening of dysphagia: timing and tools; (2) diagnosis of dysphagia: clinical and instrumental detection, severity assessment; (3) dysphagia and QoL: impact and assessment; (4) prognostic value of dysphagia; impact on the outcome and role of associated conditions., Conclusions: The statements elaborated by the Consensus Panel provide a framework to guide the neurologist in the timely detection and accurate diagnosis of dysphagia in PD., (© 2021. The Author(s).)
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- 2022
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45. Extracellular Vesicles Derived From Plasma of Patients With Neurodegenerative Disease Have Common Transcriptomic Profiling.
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Sproviero D, Gagliardi S, Zucca S, Arigoni M, Giannini M, Garofalo M, Fantini V, Pansarasa O, Avenali M, Ramusino MC, Diamanti L, Minafra B, Perini G, Zangaglia R, Costa A, Ceroni M, Calogero RA, and Cereda C
- Abstract
Objectives: There is a lack of effective biomarkers for neurodegenerative diseases (NDs) such as Alzheimer's disease (AD), Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), and frontotemporal dementia. Extracellular vesicle (EV) RNA cargo can have an interesting potential as a non-invasive biomarker for NDs. However, the knowledge about the abundance of EV-mRNAs and their contribution to neurodegeneration is not clear., Methods: Large and small EVs (LEVs and SEVs) were isolated from plasma of patients and healthy volunteers (control, CTR) by differential centrifugation and filtration, and RNA was extracted. Whole transcriptome was carried out using next generation sequencing (NGS)., Results: Coding RNA (i.e., mRNA) but not long non-coding RNAs (lncRNAs) in SEVs and LEVs of patients with ALS could be distinguished from healthy CTRs and from other NDs using the principal component analysis (PCA). Some mRNAs were found in commonly deregulated between SEVs of patients with ALS and frontotemporal dementia (FTD), and they were classified in mRNA processing and splicing pathways. In LEVs, instead, one mRNA and one antisense RNA (i.e., MAP3K7CL and AP003068.3) were found to be in common among ALS, FTD, and PD. No deregulated mRNAs were found in EVs of patients with AD., Conclusion: Different RNA regulation occurs in LEVs and SEVs of NDs. mRNAs and lncRNAs are present in plasma-derived EVs of NDs, and there are common and specific transcripts that characterize LEVs and SEVs from the NDs considered in this study., Competing Interests: SZ was employed by EnGenome SRL. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Sproviero, Gagliardi, Zucca, Arigoni, Giannini, Garofalo, Fantini, Pansarasa, Avenali, Ramusino, Diamanti, Minafra, Perini, Zangaglia, Costa, Ceroni, Calogero and Cereda.)
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- 2022
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46. Clinical and Dopamine Transporter Imaging Trajectories in a Cohort of Parkinson's Disease Patients with GBA Mutations.
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Caminiti SP, Carli G, Avenali M, Blandini F, and Perani D
- Subjects
- Cohort Studies, Humans, Mutation genetics, Tomography, Emission-Computed, Single-Photon methods, Dopamine Plasma Membrane Transport Proteins genetics, Dopamine Plasma Membrane Transport Proteins metabolism, Glucosylceramidase genetics, Glucosylceramidase metabolism, Molecular Imaging, Parkinson Disease diagnostic imaging, Parkinson Disease genetics, Parkinson Disease metabolism
- Abstract
Background: Glucosylceramidase (GBA) mutations are considered the most common genetic risk factors for developing Parkinson's disease (PD)., Objectives: We aimed to assess, at different time points, the integrity of brain striatal and extra-striatal dopamine pathways and clinical phenotype of a group of PD subjects bearing heterozygous GBA mutations (GBA-PD), compared with a group of idiopathic PD patients (iPD) stratified by age at disease onset. A longitudinal approach was adopted to evaluate the progression over time for clinical and
123 I-FP-CIT SPECT imaging features., Methods: We considered 46 GBA-PD patients and 339 iPD patients, subdivided into two groups according to age at PD onset (n = 58 < 50 years and n = 281 > 50 years). We measured differences in the occurrence/severity/progression of motor and non-motor features,123 I-FP-CIT standard uptake value ratios (SUVr) in striatal and extra-striatal regions, and global cognitive deterioration over time in a subset of 168 cases with available follow-up., Results: At baseline, the GBA-PD cohort showed more severe motor and cognitive deficits than the early-iPD cohort. The123 I-FP-CIT SUVr reduction in the striatal and the extra-striatal regions was more marked in the GBA-PD than the early- and late-iPD cohorts. Both GBA-PD and late-iPD patients had a significant annual deterioration in their global cognitive performance, while the early-iPD group showed global cognitive stability over time. At follow-up, the iPD cohorts became similar to the GBA-PD group in123 I-FP-CIT SUVr reduction., Conclusion: These new findings support the hypothesis of a biological role of GBA mutations in accelerating the early neurodegenerative processes in PD, leading to the malignant clinical phenotype. © 2021 International Parkinson and Movement Disorder Society., (© 2021 International Parkinson and Movement Disorder Society.)- Published
- 2022
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47. Evaluation of the efficacy of physical therapy on cognitive decline at 6-month follow-up in Parkinson disease patients with mild cognitive impairment: a randomized controlled trial.
- Author
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Avenali M, Picascia M, Tassorelli C, Sinforiani E, and Bernini S
- Subjects
- Cognition, Follow-Up Studies, Humans, Physical Therapy Modalities, Cognitive Dysfunction therapy, Parkinson Disease therapy
- Abstract
Background: In Parkinson's disease (PD), physical activity may represent a possible non-pharmacological intervention not only for improving motor symptoms but also for modulating cognitive impairment., Aims: To evaluate the efficacy of an intensive physical program on cognitive functions in mid-stage PD patients with mild cognitive impairment (PD-MCI) over a 6-month follow-up., Methods: This is a 6-month randomized controlled follow-up study. 40 PD-MCI patients were randomized to receive physical therapy (PT) or no specific intervention beside drug treatment (CT). Cognitive and motor assessments were performed at baseline (T0), 4 weeks after baseline (T1) and 6 months after T0. In a previous study, we reported a significant improvement in global cognitive functioning and attention/working-memory at T1. Here, we evaluated the residual effect of the training intervention at 6 months on both cognitive and motor performances., Results: Intra-group analysis showed that at T2 most of cognitive and motor performances remained stable in the PT when compared to T0, while a significant worsening was observed in the CT. Between-group comparison at T2 showed significantly better results in PT than CT as regards MoCA and motor scales. The percentage change of cognitive and motor performances between T1 and T2 confirmed the benefit of physical therapy on global cognitive functioning scores (MMSE and MoCA)., Conclusions: In this follow-up extension of a longitudinal randomized controlled study, we demonstrated that physical therapy has a positive effect on cognitive functions, which extends beyond the duration of the treatment itself to, at least temporarily, reducing cognitive decline., Trial Registration: Trial registration number (ClinicalTrials.gov): NCT04012086 (9th July 2019)., (© 2021. The Author(s), under exclusive licence to Springer Nature Switzerland AG.)
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- 2021
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48. The remote assessment of parkinsonism supporting the ongoing development of interventions in Gaucher disease.
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Higgins AL, Toffoli M, Mullin S, Lee CY, Koletsi S, Avenali M, Blandini F, and Schapira AH
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- Glucosylceramidase genetics, Humans, Mutation genetics, Prodromal Symptoms, Gaucher Disease diagnosis, Gaucher Disease genetics, Gaucher Disease pathology, Parkinson Disease diagnosis, Parkinson Disease genetics, Parkinson Disease pathology, Parkinsonian Disorders diagnosis, Parkinsonian Disorders genetics
- Abstract
Mutations in GBA which are causative of Gaucher disease in their biallelic form, are the most common genetic risk factor for Parkinson's disease (PD). The diagnosis of PD relies upon clinically defined motor features which appear after irreversible neurodegeneration. Prodromal symptoms of PD may provide a means to predict latent pathology, years before the onset of motor features. Previous work has reported prodromal features of PD in GBA mutation carriers, however this has been insufficiently sensitive to identify those that will develop PD. The Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease (RAPSODI GD) study assesses a large cohort of GBA mutation carriers, to aid development of procedures for earlier diagnosis of PD.
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- 2021
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49. Consensus on the treatment of dysphagia in Parkinson's disease.
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Schindler A, Pizzorni N, Cereda E, Cosentino G, Avenali M, Montomoli C, Abbruzzese G, Antonini A, Barbiera F, Benazzo M, Benarroch E, Bertino G, Clavè P, Cortelli P, Eleopra R, Ferrari C, Hamdy S, Huckabee ML, Lopiano L, Marchese-Ragona R, Masiero S, Michou E, Occhini A, Pacchetti C, Pfeiffer RF, Restivo DA, 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, Humans, Italy, Deglutition Disorders etiology, Deglutition Disorders therapy, Parkinson Disease complications, Parkinson Disease therapy
- 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., (Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.)
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- 2021
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50. The Effects of Intensive Neurorehabilitation on Sequence Effect in Parkinson's Disease Patients With and Without Freezing of Gait.
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Putortì A, Corrado M, Avenali M, Martinelli D, Allena M, Cristina S, Grillo V, Martinis L, Tamburin S, Serrao M, Pisani A, Tassorelli C, and De Icco R
- Abstract
Background: The sequence effect (SE), defined as a reduction in amplitude of repetitive movements, is a common clinical feature of Parkinson's disease (PD) and is supposed to be a major contributor to freezing of gait (FOG). During walking, SE manifests as a step-by-step reduction in step length when approaching a turning point or gait destination, resulting in the so-called destination sequence effect (dSE). Previous studies explored the therapeutic effects of several strategies on SE, but none of them evaluated the role of an intensive rehabilitative program. Objectives: Here we aim to study the effects of a 4-week rehabilitative program on dSE in patients with PD with and without FOG. Methods: Forty-three patients (30 males, 70.6 ± 7.5 years old) with idiopathic PD were enrolled. The subjects were divided into two groups: patients with (PD + FOG, n = 23) and without FOG (PD - FOG, n = 20). All patients underwent a standardized 4-week intensive rehabilitation in-hospital program. At hospital admission (T0) and discharge (T1), all subjects were evaluated with an inertial gait analysis for dSE recording. Results: At T0, the dSE was more negative in the PD + FOG group (-0.80 ± 0.6) when compared to the PD - FOG group (-0.39 ± 0.3) ( p = 0.007), even when controlling for several clinical and demographic features. At T1, the dSE was reduced in the overall study population ( p = 0.001), with a more pronounced improvement in the PD + FOG group (T0: -0.80 ± 0.6; T1: -0.23 ± 0.4) when compared to the PD - FOG group (T0: -0.39 ± 0.3; T1: -0.22 ± 0.5) ( p = 0.012). At T1, we described in the overall study population an improvement in speed, cadence, stride duration, and stride length ( p = 0.001 for all variables). Conclusions: dSE is a core feature of PD gait dysfunction, specifically in patients with FOG. A 4-week intensive rehabilitative program improved dSE in PD patients, exerting a more notable beneficial effect in the PD + FOG group., Competing Interests: APi holds grants that are not related to the subject of the present study, and he reports no biomedical financial interests or potential conflicts of interest. CT holds grants and received scientific consulting fees from drug companies that are not related to the subject of the present study. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The reviewer AS declared a shared affiliation, with no collaboration, with one of the authors MS to the handling Editor., (Copyright © 2021 Putortì, Corrado, Avenali, Martinelli, Allena, Cristina, Grillo, Martinis, Tamburin, Serrao, Pisani, Tassorelli and De Icco.)
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- 2021
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