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1. Neurophysiological Aspects in SARS-CoV-2–Induced Acute Respiratory Distress Syndrome

Author: Vecchio, E, Gallicchio, L, Caporusso, N, Recchia, V, Didonna, L, Pezzuto, G, Pisani, L, Petruzzellis, A, Delmonte, V, and Tamma, F
Subjects: Neurology, Neurology (clinical)
Abstract: Patients with coronavirus disease 2019 (COVID-19) often develop acute respiratory failure and acute respiratory distress syndrome (ARDS) that requires intensive care unit (ICU) hospitalization and invasive mechanical ventilation, associated with a high mortality rate. In addition, many patients fail early weaning attempts, further increasing ICU length of stay and mortality. COVID-19 related ARDS can be complicated by neurological involvement with mechanisms of direct central nervous system (CNS) infection and with overlapping para-infective mechanisms of the peripheral nervous system (PNS). We aimed to evaluate the possible involvement of the brainstem and PNS in patients with COVID-19 related ARDS and difficulty in weaning from mechanical ventilation. We evaluated electroencephalogram (EEG), brainstem auditory evoked potentials (BAEPs), electroneurography of the four limbs and the phrenic nerve in 10 patients with respiratory insufficiency due to SARS-CoV-2. All were admitted to intensive care unit and were facing prolonged weaning from mechanical ventilation. All ten patients showed a mild diffuse non-specific slowing of brain electrical activity on the EEG. Four patients had an acute motor axonal neuropathy with absent or reduced amplitude phrenic nerve CMAP while four patients showed impairment of the BAEPs. A patient with peripheral nerve impairment suggestive of Guillain-Barré syndrome (GBS) underwent an intravenous immunoglobulin (IVIg) cycle that led to an improvement in the weaning process and progressive motor improvement. The inclusion of a comprehensive neurological evaluation in COVID-19 patients in ICU facilitated the early identification and effective management of Nervous System involvement.
Published: 2022

2. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021)

Author: van Rheenen, W, van der Spek, RAA, Bakker, MK, van Vugt, JJFA, Hop, PJ, Zwamborn, RAJ, de Klein, N, Westra, HJ, Bakker, OB, Deelen, P, Shireby, G, Hannon, E, Moisse, M, Baird, D, Restuadi, R, Dolzhenko, E, Dekker, AM, Gawor, K, Westeneng, HJ, Tazelaar, GHP, van Eijk, KR, Kooyman, M, Byrne, RP, Doherty, M, Heverin, M, Al Khleifat, A, Iacoangeli, A, Shatunov, A, Ticozzi, N, Cooper-Knock, J, Smith, BN, Gromicho, M, Chandran, S, Pal, S, Morrison, KE, Shaw, PJ, Hardy, J, Orrell, RW, Sendtner, M, Meyer, T, Basak, N, van der Kooi, AJ, Ratti, A, Fogh, I, Gellera, C, Lauria, G, Corti, S, Cereda, C, Sproviero, D, Soraru, G, Siciliano, G, Filosto, M, Padovani, A, Chio, A, Calvo, A, Moglia, C, Brunetti, M, Canosa, A, Grassano, M, Beghi, E, Pupillo, E, Logroscino, G, Nefussy, B, Osmanovic, A, Nordin, A, Lerner, Y, Zabari, M, Gotkine, M, Baloh, RH, Bell, S, Vourc'h, P, Corcia, P, Couratier, P, Millecamps, S, Meininger, V, Salachas, F, Pardina, JMS, Assialioui, A, Rojas-Garcia, R, Dion, PA, Ross, JP, Ludolph, AC, Weishaupt, JH, Brenner, D, Freischmidt, A, Bensimon, G, Brice, A, Durr, A, Payan, CAM, Saker-Delye, S, Wood, NW, Topp, S, Rademakers, R, Tittmann, L, Lieb, W, Franke, A, Ripke, S, Braun, A, Kraft, J, Whiteman, DC, Olsen, CM, Uitterlinden, AG, Hofman, A, Rietschel, M, Cichon, S, Nothen, MM, Amouyel, P, Comi, G, Riva, N, Lunetta, C, Gerardi, F, Cotelli, MS, Rinaldi, F, Chiveri, L, Guaita, MC, Perrone, P, Diamanti, L, Ferrarese, C, Tremolizzo, L, Delodovici, ML, Bono, G, Manera, U, Vasta, R, Bombaci, A, Casale, F, Fuda, G, Salamone, P, Iazzolino, B, Peotta, L, Cugnasco, P, De Marco, G, Torrieri, MC, Palumbo, F, Gallone, S, Barberis, M, Sbaiz, L, Gentile, S, Mauro, A, De Marchi, F, D'Alfonso, S, Bertolotto, A, Gionco, M, Leotta, D, Odddenino, E, Imperiale, D, Cavallo, R, Pignatta, P, De Mattei, M, Geda, C, Papurello, DM, Gusmaroli, G, Comi, C, Labate, C, Ruiz, L, Ferrandi, D, Rota, E, Aguggia, M, Di Vito, N, Meineri, P, Ghiglione, P, Launaro, N, Dotta, M, Di Sapio, A, Giardini, G, Tiloca, C, Peverelli, S, Taroni, F, Pensato, V, Castellotti, B, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Corrado, L, Mazzini, L, Raggi, F, Simoncini, C, Lo Gerfo, A, Inghilleri, M, Ferlini, A, Simone, IL, Passarella, B, Guerra, V, Zoccolella, S, Nozzoli, C, Mundi, C, Leone, M, Zarrelli, M, Tamma, F, Valluzzi, F, Calabrese, G, Boero, G, Rini, A, Traynor, BJ, Singleton, AB, Neto, MM, Cauchi, RJ, Ophoff, RA, Wiedau-Pazos, M, Lomen-Hoerth, C, van Deerlin, VM, Grosskreutz, J, Roediger, A, Gaur, N, Jork, A, Barthel, T, Theele, E, Ilse, B, Stubendorff, B, Witte, OW, Steinbach, R, Hubner, CA, Graff, C, Brylev, L, Fominykh, V, Demeshonok, V, Ataulina, A, Rogelj, B, Koritnik, B, Zidar, J, Ravnik-Glavac, M, Glavac, D, Stevic, Z, Drory, V, Povedano, M, Blair, IP, Kiernan, MC, Benyamin, B, Henderson, RD, Furlong, S, Mathers, S, McCombe, PA, Needham, M, Ngo, ST, Nicholson, GA, Pamphlett, R, Rowe, DB, Steyn, FJ, Williams, KL, Mather, KA, Sachdev, PS, Henders, AK, Wallace, L, de Carvalho, M, Pinto, S, Petri, S, Weber, M, Rouleau, GA, Silani, V, Curtis, CJ, Breen, G, Glass, JD, Brown, RH, Landers, JE, Shaw, CE, Andersen, PM, Groen, EJN, van Es, MA, Pasterkamp, RJ, Fan, DS, Garton, FC, McRae, AF, Smith, GD, Gaunt, TR, Eberle, MA, Mill, J, McLaughlin, RL, Hardiman, O, Kenna, KP, Wray, NR, Tsai, EL, Runz, H, Franke, L, Al-Chalabi, A, Van Damme, P, van den Berg, LH, Veldink, JH, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, and SLAP Consortium
Published: 2022

3. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (Nature Genetics, (2021), 53, 12, (1636-1648), 10.1038/s41588-021-00973-1)

Author: van Rheenen, W., van der Spek, R. A. A., Bakker, M. K., van Vugt, J. J. F. A., Hop, P. J., Zwamborn, R. A. J., de Klein, N., Westra, H. -J., Bakker, O. B., Deelen, P., Shireby, G., Hannon, E., Moisse, M., Baird, D., Restuadi, R., Dolzhenko, E., Dekker, A. M., Gawor, K., Westeneng, H. -J., Tazelaar, G. H. P., van Eijk, K. R., Kooyman, M., Byrne, R. P., Doherty, M., Heverin, M., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Ticozzi, N., Cooper-Knock, J., Smith, B. N., Gromicho, M., Chandran, S., Pal, S., Morrison, K. E., Shaw, P. J., Hardy, J., Orrell, R. W., Sendtner, M., Meyer, T., Basak, N., van der Kooi, A. J., Ratti, A., Fogh, I., Gellera, C., Lauria, G., Corti, S., Cereda, C., Sproviero, D., D'Alfonso, S., Soraru, G., Siciliano, G., Filosto, M., Padovani, A., Chio, A., Calvo, A., Moglia, C., Brunetti, M., Canosa, A., Grassano, M., Beghi, E., Pupillo, E., Logroscino, G., Nefussy, B., Osmanovic, A., Nordin, A., Lerner, Y., Zabari, M., Gotkine, M., Baloh, R. H., Bell, S., Vourc'H, P., Corcia, P., Couratier, P., Millecamps, S., Meininger, V., Salachas, F., Mora Pardina, J. S., Assialioui, A., Rojas-Garcia, R., Dion, P. A., Ross, J. P., Ludolph, A. C., Weishaupt, J. H., Brenner, D., Freischmidt, A., Bensimon, G., Brice, A., Durr, A., Payan, C. A. M., Saker-Delye, S., Wood, N. W., Topp, S., Rademakers, R., Tittmann, L., Lieb, W., Franke, A., Ripke, S., Braun, A., Kraft, J., Whiteman, D. C., Olsen, C. M., Uitterlinden, A. G., Hofman, A., Rietschel, M., Cichon, S., Nothen, M. M., Amouyel, P., Comi, G., Riva, N., Lunetta, C., Gerardi, F., Cotelli, M. S., Rinaldi, F., Chiveri, L., Guaita, M. C., Perrone, P., Ceroni, M., Diamanti, L., Ferrarese, C., Tremolizzo, L., Delodovici, M. L., Bono, G., Manera, U., Vasta, R., Bombaci, A., Casale, F., Fuda, G., Salamone, P., Iazzolino, B., Peotta, L., Cugnasco, P., De Marco, G., Torrieri, M. C., Palumbo, F., Gallone, S., Barberis, M., Sbaiz, L., Gentile, S., Mauro, A., Mazzini, L., De Marchi, F., Corrado, L., Bertolotto, A., Gionco, M., Leotta, D., Odddenino, E., Imperiale, D., Cavallo, R., Pignatta, P., De Mattei, M., Geda, C., Papurello, D. M., Gusmaroli, G., Comi, C., Labate, C., Ruiz, L., Ferrandi, D., Rota, E., Aguggia, M., Di Vito, N., Meineri, P., Ghiglione, P., Launaro, N., Dotta, M., Di Sapio, A., Giardini, G., Tiloca, C., Peverelli, S., Taroni, F., Pensato, V., Castellotti, B., Comi, G. P., Del Bo, R., Gagliardi, S., Raggi, F., Simoncini, C., Lo Gerfo, A., Inghilleri, M., Ferlini, A., Simone, I. L., Passarella, B., Guerra, V., Zoccolella, S., Nozzoli, C., Mundi, C., Leone, M., Zarrelli, M., Tamma, F., Valluzzi, F., Calabrese, G., Boero, G., Rini, A., Traynor, B. J., Singleton, A. B., Mitne Neto, M., Cauchi, R. J., Ophoff, R. A., Wiedau-Pazos, M., Lomen-Hoerth, C., van Deerlin, V. M., Grosskreutz, J., Roediger, A., Gaur, N., Jork, A., Barthel, T., Theele, E., Ilse, B., Stubendorff, B., Witte, O. W., Steinbach, R., Hubner, C. A., Graff, C., Brylev, L., Fominykh, V., Demeshonok, V., Ataulina, A., Rogelj, B., Koritnik, B., Zidar, J., Ravnik-Glavac, M., Glavac, D., Stevic, Z., Drory, V., Povedano, M., Blair, I. P., Kiernan, M. C., Benyamin, B., Henderson, R. D., Furlong, S., Mathers, S., Mccombe, P. A., Needham, M., Ngo, S. T., Nicholson, G. A., Pamphlett, R., Rowe, D. B., Steyn, F. J., Williams, K. L., Mather, K. A., Sachdev, P. S., Henders, A. K., Wallace, L., de Carvalho, M., Pinto, S., Petri, S., Weber, M., Rouleau, G. A., Silani, V., Curtis, C. J., Breen, G., Glass, J. D., Brown, R. H., Landers, J. E., Shaw, C. E., Andersen, P. M., Groen, E. J. N., van Es, M. A., Pasterkamp, R. J., Fan, D., Garton, F. C., Mcrae, A. F., Davey Smith, G., Gaunt, T. R., Eberle, M. A., Mill, J., Mclaughlin, R. L., Hardiman, O., Kenna, K. P., Wray, N. R., Tsai, E., Runz, H., Franke, L., Al-Chalabi, A., Van Damme, P., van den Berg, L. H., and Veldink, J. H.
Published: 2022

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

Author: Abbruzzese, G., Kulisevsky, J., Bergmans, B., Gomez-Esteban, J. C., Kagi, G., Raw, J., Stefani, A., Warnecke, T., Jost, W. H., Bourgeois, P., Cras, P., de Klippel, N., Dethy, S., Franco, G., Garraux, G., Geens, K., Jacquerye, P., Jeanjean, A., Santens, P., Supiot, F., van der Linden, C., Blersch, W. K., Delf, M., Hellwig, B., Herbst, H. P., Kupsch, A., Lang, M., Muhlack, S., Nastos, I., Oehlwein, C., Schlegel, E., Schwarz, J., Woitalla, D., Aguggia, M., Avarello, T., Barone, P., Baruffaldi, R., Belgrado, E., Bentivoglio, A. R., Bosco, D., Calabresi, P., Callegarini, C., Cannas, A., Centonze, D., Ceravolo, R., Colosimo, C., Comi, C., Contardi, S., Cortelli, P., Cossu, G., D'Amelio, M., de Pandis, M. F., Denaro, A., Di Lazzaro, V., Fabbrini, G., Gasparoli, E., Guidi, M., Iliceto, G., Lopiano, L., Manganotti, P., Marconi, R., Marini, C., Marsala, S. Z., Mauri, M., Moleri, M., Monge, A., Morgante, F., Negrotti, A., Nordera, G., Onofrj, M., Pacchetti, C., Padovani, A., Pontieri, F. E., Priori, A., Quatrale, R., Sensi, M., Tamma, F., Tessitore, A., Tinazzi, M., Vitale, C., Volonte, M. A., Zappia, M., Zecchinelli, A. L., Arbelo Gonzalez, J. M., Bayes, A., Blazquez, M., Calopa Garriga, M., Callen, A., Campos Arillo, V., Cubo, E., de Fabregues, O., Escalante Arroyo, S., Espinosa Rosso, R., Esquivel Lopez, A., Freire, E., Garcia Cobos, E., Garcia Moreno, J. M., Gonzalez-Ardura, J., Grandas Perez, F., Kurtis, M., Juni, J., Legarda, I., Leiva, C., Lopez Aristegui, N., Lopez Manzanares, L., Lozano, J. J., Luquin, M. R., Martinez Castrillo, J. C., Marti Domenech, M. J., Martinez, I., Mata, M., Mir Rivera, P., Pascual Sedano, B., Rodriguez Oroz, M. C., Rodriguez Uranga, J. J., Sanchez, S., Santos Garcia, D., Solano, B., Vaamonde Gamo, J., Accolla, E., Bohlhalter, S., Kalin, A., Michelis, J., Carrol, C., Henderson, E., Raha, S., Silva, N., Silverdale, M., Universidad de Sevilla. Departamento de Medicina, Abbruzzese G., Kulisevsky J., Bergmans B., Gomez-Esteban J.C., Kagi G., Raw J., Stefani A., Warnecke T., Jost W.H., Bourgeois P., Cras P., de Klippel N., Dethy S., Franco G., Garraux G., Geens K., Jacquerye P., Jeanjean A., Santens P., Supiot F., van der Linden C., Blersch W.K., Delf M., Hellwig B., Herbst H.P., Kupsch A., Lang M., Muhlack S., Nastos I., Oehlwein C., Schlegel E., Schwarz J., Woitalla D., Aguggia M., Avarello T., Barone P., Baruffaldi R., Belgrado E., Bentivoglio A.R., Bosco D., Calabresi P., Callegarini C., Cannas A., Centonze D., Ceravolo R., Colosimo C., Comi C., Contardi S., Cortelli P., Cossu G., D'Amelio M., de Pandis M.F., Denaro A., Di Lazzaro V., Fabbrini G., Gasparoli E., Guidi M., Iliceto G., Lopiano L., Manganotti P., Marconi R., Marini C., Marsala S.Z., Mauri M., Moleri M., Monge A., Morgante F., Negrotti A., Nordera G., Onofrj M., Pacchetti C., Padovani A., Pontieri F.E., Priori A., Quatrale R., Sensi M., Tamma F., Tessitore A., Tinazzi M., Vitale C., Volonte M.A., Zappia M., Zecchinelli A.L., Arbelo Gonzalez J.M., Bayes A., Blazquez M., Calopa Garriga M., Callen A., Campos Arillo V., Cubo E., de Fabregues O., Escalante Arroyo S., Espinosa Rosso R., Esquivel Lopez A., Freire E., Garcia Cobos E., Garcia Moreno J.M., Gonzalez-Ardura J., Grandas Perez F., Kurtis M., Juni J., Legarda I., Leiva C., Lopez Aristegui N., Lopez Manzanares L., Lozano J.J., Luquin M.R., Martinez Castrillo J.C., Marti Domenech M.J., Martinez I., Mata M., Mir Rivera P., Pascual Sedano B., Rodriguez Oroz M.C., Rodriguez Uranga J.J., Sanchez S., Santos Garcia D., Solano B., Vaamonde Gamo J., Accolla E., Bohlhalter S., Kalin A., Michelis J., Carrol C., Henderson E., Raha S., Silva N., and Silverdale M.
Subjects: Research Report, Male, 0301 basic medicine, Benzylamines, Parkinson's disease, Outcome Assessment, Comorbidity, Disease, Real-life evaluation, chemistry.chemical_compound, 0302 clinical medicine, Outcome Assessment, Health Care, 80 and over, MAO-B inhibitor, Aged, 80 and over, Safinamide, education.field_of_study, Alanine, Mental Disorders, Parkinson Disease, Middle Aged, Aged, Drug-Related Side Effects and Adverse Reactions, Europe, Female, Follow-Up Studies, Humans, Monoamine Oxidase Inhibitors, Retrospective Studies, Settore MED/26 - NEUROLOGIA, Erratum, Cohort study, medicine.medical_specialty, Population, MEDLINE, 03 medical and health sciences, Cellular and Molecular Neuroscience, Internal medicine, medicine, Adverse effect, education, business.industry, medicine.disease, Health Care, 030104 developmental biology, chemistry, Parkinson’s disease, Observational study, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract: Background: Safinamide modulates both dopaminergic and glutamatergic systems with positive effects on motor and non-motor symptoms of Parkinson's disease (PD). The drug utilization study SYNAPSES was designed to investigate the use of safinamide in routine clinical practice, as recommended by the European Medicines Agency. Objective: To describe the occurrence of adverse events in PD patients treated with safinamide in real-life conditions. Methods: The SYNAPSES trial is an observational, European, multicenter, retrospective-prospective cohort study. Patients were followed up to 12 months with analyses performed in the overall population and in patients aged >75 years, with relevant comorbidities and with psychiatric conditions. Results: Of the 1610 patients included, 82.4% were evaluable after 12 months with 25.1% of patients >75 years, 70.8% with relevant comorbidities and 42.4% with psychiatric conditions. During observation 45.8% patients experienced adverse events, 27.7% patients had adverse drug reactions and 9.2% patients had serious adverse events. The adverse events were those already described in the patients' information leaflet. The majority were mild or moderate and completely resolved and no differences were detected between the subgroup of patients. Clinically significant improvements were seen in the UPDRS motor score and in the UPDRS total score in >= 40% of patients, according to the criteria developed by Shulman et al. Conclusion: The SYNAPSES study confirms the good safety profile of safinamide even in special groups of patients. Motor complications and motor scores improved with clinically significant results in the UPDRS scale maintained in the long-term.
Published: 2022

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

Author: Antonini, A., Abbruzzese, G., Berardelli, A., Modugno, N., Stroppa, I., Tamma, F., Sensi, M., Mancini, F., Cossu, G., Stefani, A., Tambasco, N., Tessitore, A., Fabbrini, G., Pontieri, F. E., Solla, P., Bentivoglio, Anna Rita, Comi, C., Minafra, B., Riboldazzi, G., Melchionda, D., Martino, T., and Lopiano, L.
Subjects: Settore MED/26 - NEUROLOGIA, Parkinson's disease, Tandem
Published: 2020

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

Author: Di Nuzzo, C, Ferrucci, R, Bertolasi, L, Lo Piano, L, Modugno, N, Onofrj, M, Pacchetti, C, Stocchi, F, Tamma, F, Marceglia, S, Mancini, F, Priori, A, Movement Disorders Society, Di Nuzzo, C, Ferrucci, R, Bertolasi, L, Lo Piano, L, Modugno, N, Onofrj, M, Pacchetti, C, Stocchi, F, Tamma, F, Marceglia, S, Mancini, F, and Priori, A
Subjects: Parkinson's disease, technology, mobile health
Abstract: Objective. The present survey aims to explore the use and need of connected health or technology-enabled care (TEC) in patients with Parkinson's disease (PD) in Italy. Background. TEC includes telecare, telehealth, telemedicine, Mobile Health and technological tools, and it is increasingly believed to contribute to achieve the challenges of health, social care, and wellness, and to enable more effective integration of care. Currently, few TEC tools specifically developed for PD symptoms are available and most of these are still prototype. However, TEC is being recognized as a valuable option to improve quality of life in patients with PD [1, 2]. Methods. 142 PD patients (90 males; aged 31-90 years; education 5-17 years) answered to a specifically developed multiple-choices questionnaire composed by 36 items concerning medical history and daily use of TEC (medical devices, health applications, and hardware including mobile diagnostics, remote monitoring devices, wearables and tools). Results. Overall PD patients are very interested in technological tools: 81.7% of patients consider technologies useful for managing PD, 58% would use technologies to communicate with physicians, 53% for daily reminder of drug schedule, 56% to practice physical training and 60% for cognitive exercises. In contrast, the real use of technologies specifically targeting the symptoms and dysfunctions of the disease by PD patients is remarkably rare: for instance, 14.8% of patients used videogames, 5.6% wearable sensors, 1.4% virtual reality, 7.7% cognitive applications, 1.4% self-stabilizing pen, 0% self-stabilizing spoon). Conclusion. Though Italian PD patients are strongly interested in technologies specifically developed for PD, a real knowledge of their potential utility and their real use are still uncommon. The education of PD patients to the use of technological tools can therefore further improve the efficacy of conventional treatments and reduce the cost for the national health systems related to PD.
Published: 2018

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

Author: Sensi, M., Cossu, G., Mancini, F., Pilleri, M., Zibetti, M., Modugno, N., Quatrale, R., Tamma, F., Antonini, A., Aguggia, M., Amboni, M., Arca, R., Bartolomei, L., Bonetto, N., Calandra-Buonaura, G., Bove, F., Calandrella, D., Canesi, M., Cannas, A., Capecci, M., Caputo, E., Ceravolo, M. G., Ceravolo, R., Cerrone, G., Coletti Moja, M., Comi, C., Cortelli, P., D'Antonio, P., Dematteis, F., Di Lazzaro, V., Eleopra, R., Fabbrini, G., Fichera, M., Grassi, E., Guido, M., Gusmaroli, G., Latorre, A., Malaguti, M. C., Marano, M., Marano, P., Marconi, R., Mazzucchi, S., Meco, G., Minafra, B., Morgante, F., Pacchetti, C., Pierantozzi, M., Pontieri, F. E., Riboldazzi, G., Ricchi, V., Ricchieri, G., Rinaldo, S., Rispoli, V., Rossi, S., Rubino, A., Russo, A., Saddi, M. V., Stefani, A., Simoni, S., Solla, P., Tambasco, N., Tamburin, S., Tessitore, A., Torre, E., Ulivelli, M., Vita M., Gi, Volonté, M. A., on behalf of the, ITALIAN LEVODOPA CARBIDOPA INTESTINAL GEL WORKING GROUP, Sensi, M., Cossu, G., Mancini, F., Pilleri, M., Zibetti, M., Modugno, N., Quatrale, R., Tamma, F., Antonini, A., Aguggia, M., Amboni, M., Arca, R., Bartolomei, L., Bonetto, N., Calandra-Buonaura, G., Bove, F., Calandrella, D., Canesi, M., Cannas, A., Capecci, M., Caputo, E., Ceravolo, M. G., Ceravolo, R., Cerrone, G., Coletti Moja, M., Comi, C., Cortelli, P., D'Antonio, P., Dematteis, F., Di Lazzaro, V., Eleopra, R., Fabbrini, G., Fichera, M., Grassi, E., Guido, M., Gusmaroli, G., Latorre, A., Malaguti, M. C., Marano, M., Marano, P., Marconi, R., Mazzucchi, S., Meco, G., Minafra, B., Morgante, F., Pacchetti, C., Pierantozzi, M., Pontieri, F. E., Riboldazzi, G., Ricchi, V., Ricchieri, G., Rinaldo, S., Rispoli, V., Rossi, S., Rubino, A., Russo, A., Saddi, M. V., Stefani, A., Simoni, S., Solla, P., Tambasco, N., Tamburin, S., Tessitore, A., Torre, E., Ulivelli, M., Vita, M. G., Volonte, M. A., Sensi, Mariachiara, Cossu, Giovanni, Mancini, Francesca, Pilleri, Manuela, Zibetti, Maurizio, Modugno, Nicola, Quatrale, Rocco, Tamma, Filippo, Antonini, Angelo, Italian Levodopa Carbidopa Intestinal Gel Working Group [.., Calandra-Buonaura, Giovanna, Cortelli, Pietro, and ]
Subjects: Male, 0301 basic medicine, Pediatrics, Neurology, Parkinson's disease, Longitudinal Studie, Pharmacology, Antiparkinson Agents, Levodopa, 0302 clinical medicine, Retrospective Studie, Weight loss, Drug Combination, levodopa-carbidopa intestinal gel infusion, neuropathy, parkinson's disease, withdrawal, Longitudinal Studies, Gel, Carbidopa, Parkinson Disease, Health Survey, Intestine, Substance Withdrawal Syndrome, Intestines, Drug Combinations, Italy, Antiparkinson Agent, Withdrawal, Disease Progression, Female, Settore MED/26 - Neurologia, medicine.symptom, Human, medicine.drug, medicine.medical_specialty, Levodopa-carbidopa intestinal gel infusion, Neuropathy, Geriatrics and Gerontology, Neurology (clinical), 03 medical and health sciences, medicine, Humans, Adverse effect, Retrospective Studies, business.industry, Retrospective cohort study, Gels, Health Surveys, medicine.disease, Comorbidity, Discontinuation, 030104 developmental biology, business, 030217 neurology & neurosurgery
Abstract: Objectives To report the results of a national survey aimed at quantifying the current level of diffusion of Levodopa/carbidopa intestinal gel (LCIG) in Italy. Methods Sixty Parkinson's Disease (PD) specialists in Italy were invited to complete a survey covering issues on clinical and practical aspects of LCIG therapy. Results Clinical features of 905 patients were collected retrospectively. The majority of centres reported the use of a multidisciplinary team, biochemistry testing, neurophysiological and neuropsychological tests before and after treatment, in addition to caregivers' training and patient's follow as outpatients. Most centres (60%) used internal guidelines for patient selection. The overall rate of adverse events was 55.1%. Weight loss, chronic polyneuropathy and stoma infection were the most frequently reported. 40% of centres used replacement therapy with Vitamin B12 and Folic acid from the start of LCIG and continued this for the duration of treatment. The rate of discontinuation was of 25.7% overall, with 9.5% of cases occurring in the first year. The main causes of withdrawal were device-related complications, disease progression (comorbidity, severe dementia) and caregiver and/or patient dissatisfaction. Conclusions In Italy LCIG infusion is managed in a uniform manner at a clinical, practical and organizational level even though the selection criteria are not standardized through the country. The high percentage of patients remaining on treatment in the short- and long-term follow-up confirms effectiveness of treatment, careful follow-up, and appropriate patient and caregivers training.
Published: 2017

8. Pisa syndrome in Parkinson disease

Author: Tinazzi, M, Fasano, A, Geroin, C, Morgante, F, Ceravolo, R, Rossi, S, Thomas, A, Fabbrini, G, Bentivoglio, A, Tamma, F, Cossu, G, Modugno, N., Zappia, M, Volonte, MA, Dallocchio, C, Abbruzzese, G, Pacchetti, C, Marconi, R, Defazio, G, Canesi, M, Cannas, A, Pisani, A, Mirandola, R, Barone, P, Vitale, C, Allocca, R, Altavilla, T, Bisoffi, G, Bombieri, F, Bove, F, Bovi, T, Cerbarano, L, Cordano, C, Di Giacomo, R, Di Stefano, F, Erro, R, Gallerini, S, Gandolfi, M, Gigante, AF, Juergenson, I, Lena, F, Leocani, LM, Lucchese, V, Madeo, G, Mazzucchi, S, Moccia, Marcello, Nicoletti, A, Ottaviani, S, Pezzoli, G, Pozzi, N, Ricciardi, L, Santangelo, G, Sarchioto, M, Schena, F, Sciaretta, M, Smania, N, Solla, P, Spagnolo, F, Ulivelli, M., Tinazzi, M, Fasano, A, Geroin, C, Morgante, F, Ceravolo, R, Rossi, S, Thomas, A, Fabbrini, G, Bentivoglio, A, Tamma, F, Cossu, G, Modugno, N., Zappia, M, Volonte, Ma, Dallocchio, C, Abbruzzese, G, Pacchetti, C, Marconi, R, Defazio, G, Canesi, M, Cannas, A, Pisani, A, Mirandola, R, Barone, P, Vitale, C, Allocca, R, Altavilla, T, Bisoffi, G, Bombieri, F, Bove, F, Bovi, T, Cerbarano, L, Cordano, C, Di Giacomo, R, Di Stefano, F, Erro, R, Gallerini, S, Gandolfi, M, Gigante, Af, Juergenson, I, Lena, F, Leocani, Lm, Lucchese, V, Madeo, G, Mazzucchi, S, Moccia, Marcello, Nicoletti, A, Ottaviani, S, Pezzoli, G, Pozzi, N, Ricciardi, L, Santangelo, G, Sarchioto, M, Schena, F, Sciaretta, M, Smania, N, Solla, P, Spagnolo, F, and Ulivelli, M.
Subjects: Cross-Sectional Studie, Levodopa, Male, Dystonia, Italy, Female, Parkinson Disease, Syndrome, Cohort Studie, Middle Aged, Aged, Dopamine Agonist, Human
Published: 2015

9. Pisa syndrome in Parkinson disease

Author: Tinazzi, M., Fasano, Alfonso, Geroin, C., Morgante, F., Ceravolo, R., Rossi, S., Thomas, A., Fabbrini, G., Bentivoglio, Anna Rita, Tamma, F., Cossu, G., Modugno, N., Zappia, M., Volonte, M. A., Dallocchio, C., Abbruzzese, G., Pacchetti, C., Marconi, R., Defazio, G., Canesi, M., Cannas, A., Pisani, A., Mirandola, R., Barone, P., Vitale, C., Allocca, R., Altavilla, T., Bisoffi, G., Bombieri, F., Bove, F., Bovi, T., Cerbarano, L., Cordano, C., Di Giacomo, R., Di Stefano, F., Erro, R., Gallerini, S., Gandolfi, M., Gigante, A. F., Juergenson, I., Lena, F., Leocani, L. M., Lucchese, V., Madeo, G., Mazzucchi, S., Moccia, M., Nicoletti, A., Ottaviani, S., Pezzoli, G., Santangelo, G., Sarchioto, M., Schena, F., Sciarretta, M., Smania, N., Solla, P., Spagnolo, F., and Ulivelli, M.
Subjects: Male, Parkinson Disease, Syndrome, Middle Aged, Cohort Studies, Levodopa, Dystonia, Settore MED/26 - NEUROLOGIA, Cross-Sectional Studies, Italy, Dopamine Agonists, Humans, Female, Aged
Published: 2015

10. Pisa syndrome in Parkinson disease

Author: Tinazzi, M., Fasano, A., Geroin, C., Morgante, F., Ceravolo, R., Rossi, S., Thomas, A., Fabbrini, G., Bentivoglio, A., Tamma, F., Cossu, G., Modugno, N., Zappia, M., Volontè, M. A., Dallocchio, C., Abbruzzese, G., Pacchetti, C., Marconi, R., Defazio, G., Canesi, M., Cannas, A., Pisani, A., Mirandola, R., Barone, P., Vitale, C., Italian Pisa Syndrome Study Group, Allocca, R., Altavilla, T., Bisoffi, G., Bombieri, F., Bove, F., Bovi, T., Cerbarano, L., Cordano, C., Di Giacomo, R., Di Stefano, F., Erro, R., Gallerini, S., Gandolfi, M., Gigante, A. F., Juergenson, I., Lena, F., Leocani, L. M., Lucchese, V., Madeo, G., Mazzucchi, S., Moccia, M., Nicoletti, A., Ottaviani, S., Pezzoli, G., Santangelo, G., Sarchioto, M., Schena, F., Sciarretta, M., Smania, N., Solla, P., Spagnolo, F., and Ulivelli, M.
Subjects: Male, Aged, Cohort Studies, Cross-Sectional Studies, Dopamine Agonists, Dystonia, Female, Humans, Italy, Levodopa, Middle Aged, Parkinson Disease, Syndrome, Neurology (clinical)
Published: 2015

11. Pisa syndrome in Parkinson disease: An observational multicenter Italian study.; Italian Pisa Syndrome Study Group

Author: Tinazzi, M, Fasano, A, Geroin, C, Morgante, F, Ceravolo, Roberto, Rossi, S, Thomas, A, Fabbrini, G, Bentivoglio, A, Tamma, F, Cossu, G, Modugno, N, Zappia, M, Volontè, Ma, Dallocchio, C, Abbruzzese, G, Pacchetti, C, Marconi, R, Defazio, G, Canesi, M, Cannas, A, Pisani, A, Mirandola, R, Barone, P, and Vitale, C.
Published: 2015

12. Multicenter study report: electrophysiological monitoring procedures for subthalamic deep brain stimulation surgery in Parkinson's disease

Author: Marceglia, S., Mrakic Sposta, S., Tommasi, Giorgio, Bartolomei, L., Foresti, C., Valzania, F., Galati, S., Stefani, A., Tamma, F., Priori, A., DBS Study Group of The Italian Neurological Society, Marceglia, S, Mrakic-Sposta, S, Tommasi, G, Bartolomei, L, Foresti, C, Valzania, F, Galati, S, Stefani, A, Tamma, F, and Priori, A
Subjects: Parkinson's disease, Neurology, Deep Brain Stimulation, medicine.medical_treatment, Stimulation, Magnetic Resonance Imaging, Subthalamic Nucleus, Electrodes, Implanted, Humans, Tomography, X-Ray Computed, Algorithms, Electric Impedance, Electrophysiology, Electric Stimulation, Parkinson Disease, Monitoring, Intraoperative, Microelectrodes, Stereotaxic Techniques, Deep brain stimulation, Intraoperative monitoring, Microrecordings, Neurology (clinical), Psychiatry and Mental Health, 2708, Medicine (all), Tomography, Neuroradiology, Intraoperative, General Medicine, X-Ray Computed, Algorithm, surgical procedures, operative, Subthalamic Nucleu, Microelectrode, Parkinson’s disease, Stereotaxic Technique, Settore MED/26 - Neurologia, Neurosurgery, therapeutics, Human, medicine.medical_specialty, Monitoring, Dermatology, Physical medicine and rehabilitation, medicine, Electrodes, business.industry, medicine.disease, nervous system diseases, Surgery, nervous system, Multicenter study, Microrecording, Implanted, business
Abstract: Despite the wide diffusion of subthalamic deep brain stimulation (STN-DBS) for Parkinson's disease, systematic practical recommendations for intraoperative electrophysiological monitoring are still lacking. In this paper, a shared protocol for intraoperative electrophysiological monitoring arising from the meetings of a panel of neurophysiologists of the DBS Study Group of the Italian Neurological Society is proposed. Intraoperative monitoring is composed by microrecordings and functional stimulation. In microrecordings, it is recommended to use at least 2-3 electrodes, descending with steps of 0.5-1 mm and waiting at least 60 s before changing the position. Functional stimulation is used to assess the clinical efficacy and the side effects induced by STN-DBS at different positions. Based on the therapeutic window, an algorithm to find the optimal target is proposed. The procedures for intraoperative monitoring for STN-DBS proposed here are safe, relatively cheap, take approximately 30-40 min per side and could offer valuable additional information to the surgeon.
Published: 2010

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

Author: Juergenson, Ib, Geroin, C, Bombieri, F, Smania, N, Ottaviani, S: Bovi, Bisoffi, G, Mirandola, R, Canesi, M, Pezzoli, G, Ceravolo, R, Frosini, D, Rossi, S, Ulivelli, M, Thomas, A, Di Giacomo, R, Fabbrini, G, Sarchioto, M, Bentivoglio, A, Bove, F, Tamma, F, Lucchese, V, Cossu, G, Di Stefano, F, Pisani, Antonina Maria, Amadeo, G, Modugno, N, Zappia, M, Nicoletti, A, Volonte, Ma, Spagnolo, F, Sciaretta, M, Altavilla, T, Abbruzzese, G, Cordano, C, Pacchetti, C, Pozzi, Ng, Marconi, R, Gallerini, S, Mignarri, A, Allocca, R, Defazio, G, Morgante, F, Riccardi, L, Cannas, A, Solla, P, Vitale, C, Fasano, A, Barone, P, and Tinazzi, M.
Published: 2014

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

Author: Geroin, C, Tinazzi, M, Vitale, C, Bombieri, F, Juergenson, I, Smania, N, Schena, F, Ottaviani, S, Bisoffi, G, Mirandola, R, Canesi, M, Pezzoli, G, Ceravolo, R, Mazzucchi, S, Rossi, S, Ulivelli, M, Thomas, A, Di Giacomo, R, Fabbrini, G, Sarchioto, M, Bentivoglio, A, Bove, F, Tamma, F, Lucchese, V, Cossu, G, Di Stefano, F, Pisani, A, Amadeo, G, Modugno, N, Lena, F, Zappia, Mario, Nicoletti, Alessandra, Leocani, L, Volontè, A, Spagnolo, F, Dallocchio, C, Sciarretta, M, Altavilla, T, Abbruzzese, G, Cordano, C, Pacchetti, C, Pozzi, N, Marconi, R, Gallerini, S, Allocca, R, Defazio, G, Morgante, F, Ricciardi, L, Cannas, A, Solla, P, Fasano, A, and Barone, P.
Published: 2014

15. Dopamine-dependent non-linear correlation between subthalamic rhythms in Parkinson's disease

Author: Marceglia, S., Foffani, G., Bianchi, A. M., Baselli, G., Tamma, F., Egidi, M., Priori, A., Marceglia, S., Foffani, G., Bianchi, A. M., Baselli, G., Tamma, F., Egidi, M., and Priori, A.
Subjects: Adult, Male, Time Factors, Deep Brain Stimulation, Dopamine Agent, Basal Ganglia, Beta Rhythm, Dopamine Agents, Female, Humans, Levodopa, Middle Aged, Models, Neurological, Nonlinear Dynamics, Parkinson Disease, Subthalamic Nucleus, Nonlinear Dynamic, nervous system, Models, Subthalamic Nucleu, Neurological, Neuroscience, Human
Abstract: The basic information architecture in the basal ganglia circuit is under debate. Whereas anatomical studies quantify extensive convergence/divergence patterns in the circuit, suggesting an information sharing scheme, neurophysiological studies report an absence of linear correlation between single neurones in normal animals, suggesting a segregated parallel processing scheme. In 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-treated monkeys and in parkinsonian patients single neurones become linearly correlated, thus leading to a loss of segregation between neurones. Here we propose a possible integrative solution to this debate, by extending the concept of functional segregation from the cellular level to the network level. To this end, we recorded local field potentials (LFPs) from electrodes implanted for deep brain stimulation (DBS) in the subthalamic nucleus (STN) of parkinsonian patients. By applying bispectral analysis, we found that in the absence of dopamine stimulation STN LFP rhythms became non-linearly correlated, thus leading to a loss of segregation between rhythms. Non-linear correlation was particularly consistent between the low-beta rhythm (13–20 Hz) and the high-beta rhythm (20–35 Hz). Levodopa administration significantly decreased these non-linear correlations, therefore increasing segregation between rhythms. These results suggest that the extensive convergence/divergence in the basal ganglia circuit is physiologically necessary to sustain LFP rhythms distributed in large ensembles of neurones, but is not sufficient to induce correlated firing between neurone pairs. Conversely, loss of dopamine generates pathological linear correlation between neurone pairs, alters the patterns within LFP rhythms, and induces non-linear correlation between LFP rhythms operating at different frequencies. The pathophysiology of information processing in the human basal ganglia therefore involves not only activities of individual rhythms, but also interactions between rhythms.
Published: 2006

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

Author: Tinazzi, M, Juergenson, I, Bombieri, F, Schena, F, Ottaviani, S, Bovi, T, Bisoffi, G, Uniati, C, Canesi, M, Pezzoli, G, Ceravolo, R, Frosini, D, Rossi, S, Ulivelli, M, Thomas, A, Di Giacomo, R, Fabbrini, G, Sachioto, M, Bentivoglio, A, Bove, F, Tamma, F, Lucchese, V, Cossu, G, Di Stefano, F, Pisani, A, Amadeo, G, Modugmo, N, Lena, F, Zappia, Mario, Raciti, L, Nicoletti, Alessandra, Volontè, M, Spagnolo, F, Dallocchio, C, Sciarretta, M, Altavilla, T, Abbruzzese, G, Cordano, C, Pacchetti, C, Pozzi, N, Marconi, R, Gallerini, S, Mignarri, A, Allocca, R, Defazio, G, Morgante, F, Ricciardi, L, Cannas, A, Solla, P, Vitale, C, Fasano, A, and Barone, P.
Published: 2013

17. The relationship between cerebral vascular disease and parkinsonism: The VADO study

Author: Antonini, A., Vitale, C., Barone, P., Cilia, R., Righini, A., Bonuccelli, U., Abbruzzese, G., Ramat, S., Petrone, A., Quatrale, R., Marconi, R., Ceravolo, R., Stefani, A., Lopiano, L., Zappia, M., Capus, L., Morgante, L., Tamma, F., Tinazzi, M., Colosimo, C., Guerra, U. P., Valzania, F., Fagioli, G., Distefano, A., Bagnato, A., Feggi, L., Anna, S., Maria Teresa Rosaria De Cristofaro, Nobili, F., Mazzuca, N., Baldari, S., Eleopra, R., Bestetti, A., Benti, R., Varrone, A., Volterrani, D., Massa, R., Stocchi, F., Schillaci, O., Dore, F., Zibetti, M., Castellano, G., Battista, S. G., and Giorgetti, G.
Subjects: Male, Pathology, Parkinson's disease, Parkinson’s disease, Vascular parkinsonism, Dopamine transporter SPECT imaging, Gastroenterology, Severity of Illness Index, Antiparkinson Agents, Cohort Studies, Levodopa, Basal ganglia, 80 and over, Medicine, Tomography, Aged, 80 and over, Parkinsonism, Parkinson Disease, Magnetic Resonance Imaging, Tomography, Emission-Computed, Single-Photon, Humans, Corpus Striatum, Aged, Cerebrovascular Disorders, Cross-Sectional Studies, Dopamine Plasma Membrane Transport Proteins, Middle Aged, Parkinsonian Disorders, Female, MR Imaging, Neurology, Frontal lobe, Settore MED/26 - Neurologia, medicine.symptom, medicine.drug, MR imaging, medicine.medical_specialty, Internal medicine, Severity of illness, business.industry, Vascular disease, medicine.disease, Dyskinesia, nervous system, Neurology (clinical), Emission-Computed, Geriatrics and Gerontology, business, Single-Photon
Abstract: Background The observation of gait abnormalities, parkinsonism and vascular lesions in elderly patients is often reported as vascular parkinsonism (VP). However the status of striatal dopamine transporter (DAT) and the effects of brain vascular lesions on motor features and levodopa responsiveness are poorly defined. Methods We recorded clinical features, chronic response to levodopa and vascular risk factors in a cross-sectional cohort of consecutive elderly patients with possible Parkinson's disease (PD) or VP recruited in 20 centers in Italy. Results We included a total of 158 patients. Onset of motor symptoms was asymmetric in 93 (59%) and symmetric in 65 patients (41%). Symmetric motor onset was associated with greater disease severity. Chronic levodopa response was positive in 75 (47.8%) and negative in 82 patients (52.2%). A negative response to levodopa was associated with greater frequency of symmetric onset of motor symptoms, worst disease severity, absence of dyskinesia and greater number of vascular risk factors. Frontal lobe showed largest vascular load. Striatal DAT was normal in 48 (30.4%) and abnormal in 110 (69.6%) patients. Patients with normal DAT binding showed higher vascular load at MRI. Significant predictive factors of worst disease severity and negative response to levodopa were hypertension, vascular lesions in basal ganglia/periventricular regions, and normal DAT uptake. Conclusions Multiple cerebral vascular lesions modify clinical presentation and severity in patients with parkinsonism and this is underlined by specific risk factors primarily hypertension. Striatal DAT assessment is helpful in identifying patients where therapy benefit is less likely.
Published: 2012

18. TOWARDS ADAPTIVE DBS: LFP RECORDINGS DURING LEVODOPA AND DBS ADMINISTRATION

Author: Marceglia, SARA RENATA FRANCESCA, Rossi, L., Foffani, G., Mrakic Sposta, S., Cogiamanian, F., Bracchi, F., Egidi, M., Rampini, P., Locatelli, M., Tamma, F., Caputo, E., Barbieri, S., and Priori, A.
Published: 2009

19. Cost-effectiveness of 123I-FP-CIT SPECT in the differential diagnosis of essential tremor and Parkinson's disease in Italy

Author: Antonini, A., Berto, P., Lopatriello, S., Tamma, F., Annemans, Lieven, Chambers, M., and Biomechanics and Human Biometry
Subjects: essential tremor and Parkinson's disease in Italy
Abstract: /
Published: 2008

20. Neurophysiological correlates of Parkinsonian dyskinesias in subthalamic oscillatory activity

Author: Marceglia, SARA RENATA FRANCESCA, Leone, A, Foffani, G, Cogiamanian, F, Mrakic Sposta, S, Tamma, F, Caputo, E, Barbieri, S, and Priori, A.
Published: 2007

21. Quality of life and behavioral changes after STN DBS in Parkinson's disease

Author: Tamma, F., Caputo, E., Rodolfi, G., Molteni, S., Cogiamanian, F., Egidi, M., Locatelli, M., Marceglia, SARA RENATA FRANCESCA, Priori, A., Mrakic Sposta, S., and Rampini, P.
Published: 2007

22. Gender-related differences of the subthalamic action potentials in Parkinson's disease

Author: Mrakic Sposta, S, Marceglia, SARA RENATA FRANCESCA, Cogiamanian, F, Egidi, M, Caputo, E, Tamma, F, Accolla, E, Barbieri, S, and Priori, A.
Published: 2006

23. Gender-related neurophysiological differences of the subthalamic area in Parkinson's Disease

Author: Marceglia, SARA RENATA FRANCESCA, Mrakic Sposta, S, Bossi, B, Cogiamanian, F, Accolla, E, Tiriticco, M, Foffani, G, Egidi, M, Rampini, P, Locatelli, M, Tamma, F, Caputo, E, Barbieri, S, Gaini, Sm, Bresolin, N, and Priori, A.
Published: 2006

24. Discharge patterns in the subtralamic nucleus and substantia nigra during deep brain stimulator implants

Author: Rohr, M., Locatelli, M., Pesenti, A., Priori, A., Baselli, Giuseppe, Bianchi, ANNA MARIA, Cerutti, Sergio, Tamma, F., Caputo, E., Bergeron, C., Egidi M, M., and Rampini, P.
Subjects: Physics, Deep brain stimulation, Parkinson's disease, medicine.medical_treatment, event series analysis, Substantia nigra, Deep brain stimulator, Inter spike interval, Decay time, medicine.anatomical_structure, Rhythm, Nuclear magnetic resonance, Rise time, Deep brain stimulation, Parkinson's disease, * microneuragraphic recordings, event series analysis, medicine, microneuragraphic recordings, Nucleus, Neuroscience
Abstract: 8 patients affected by Parkinson's disease underwent implantation of stimulating electrodes in both subthalamic nuclei (STN). The stereotactic track was explored by a 1 M/spl Omega/ microelectrode and recordings were taken at different depths, from 5 mm before down to 5 mm beyond the target, with a 1 mm step. At rest, in 8 out of the 16 successful tracks, spikes were recognizable in correspondence to the STN and in 2 in correspondence to the substantia nigra (SN) beyond the target. Spikes were detected by a matched filtering and threshold algorithm. The spike shape was analyzed by the rise time (0.199/spl plusmn/0.064 msec, mean/spl plusmn/SD, in the STN), decay time (0.345/spl plusmn/0.114 msec) and bandwidth (1.612/spl plusmn/0.622 kHz, -3 dB). The discharge patterns were analyzed through the inter spike interval (ISI) histogram, the conditional intensity function (CIF) and the spectrum of counts. The mean interval was 33.3/spl plusmn/11.9 msec. Apart a single case of rhythmicity (1.65 Hz), the discharge pattern in the STN was always Poisson like with or without the presence of short bursts, as revealed by a flat CIF. Rhythmic patterns were found in SN.
Published: 2005

25. Physiological recordings from electrodes implanted in the basal ganglia for deep brain stimulation in Parkinson’s disease. The relevance of fast subthalamic rhythms

Author: Ardolino, G., Barbieri, Riccardo, Caputo, E., Cerutti, Sergio, Egidi M, M., Foffani, G., Priori, A., Rampini, P., and Tamma, F.
Published: 2005

26. 300 Hz subtalamic oscillations in Parkinson’s disease

Author: Barbieri, S., Caputo, E., Cerutti, Sergio, Egidi M, M., Foffani, G., Moxon, K., Priori, A., Rampini, P., and Tamma, F.
Published: 2003

27. Interobserver reliability between neurologists in training of Parkinson's disease rating scales. A multicenter study

Author: Geminiani, G, Cesana, Bm, Tamma, F, Contri, P, Pacchetti, C, Carella, F, Piolti, R, Martignoni, EMILIA SILVANA, Giovannini, P, and Girotti, F.
Published: 1991

28. Multiple sequential image-fusion and direct MRI localisation of the subthalamic nucleus for deep brain stimulation

Author: Rampini, P. M., marco locatelli, Alimehmeti, R., Tamma, F., Caputo, E., Priori, A., Pesenti, A., Rohr, M., and Egidi, M.

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

Author: Tinazzi M, Fasano A, Christian Geroin, Morgante F, Ceravolo R, Rossi S, Thomas A, Fabbrini G, Bentivoglio A, Tamma F, Cossu G, Modugno N, Zappia M, Ma, Volontè, Dallocchio C, Abbruzzese G, Pacchetti C, Marconi R, Defazio G, and Canesi M

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

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

31. Do intraoperative microrecordings improve subthalamic nucleus targeting in stereotactic neurosurgery for Parkinson's disease?

Author: Alberto Priori, Egidi, M., Pesenti, A., Rohr, M., Rampini, P., Locatelli, M., Tamma, F., Caputo, E., Chiesa, V., and Barbieri, S.

32. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author: Rheenen, Wouter van, Spek, Rick A. A. van der, Bakker, Mark K., Vugt, Joke J. F. A. van, Hop, Paul J., Zwamborn, Ramona A. J., Klein, Niek de, Westra, Harm Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Needham, Merrilee, Ceroni, Mauro, Simoncini, Costanza, Gagliardi, Stella, Corrado, Lucia, Garton, Fleur C., Mazzini, Letizia, Westeneng, Henk Jan, Ross, Jay P., Valluzzi, Francesco, Aguggia, Marco, Raggi, Flavia, Rini, Augusto, Traynor, Bryan J., Singleton, Andrew B., Ngo, Shyuan T., Corcia, Philippe, Olsen, Catherine M., Hofman, Albert, Van Eijk, Kristel R., Pasterkamp, R. Jeroen, Tittmann, Lukas, Iacoangeli, Alfredo, Mitne Neto, Miguel, Sproviero, Daisy, Cauchi, Ruben J., Ophoff, Roel A., Wiedau Pazos, Martina, Lomen-Hoerth, Catherine, Deerlin, Vivianna M. van, Nicholson, Garth A., Brylev, Lev, Whiteman, David C., Grosskreutz, Julian, Fan, Dongsheng, Couratier, Philippe, Roediger, Annekathrin, Gaur, Nayana, D’alfonso, Sandra, Uitterlinden, André G., Pamphlett, Roger, Fominykh, Vera, Byrne, Ross P., Lieb, Wolfgang, Iazzolino, Barbara, Dekker, Annelot M., Slap Consortium, Demeshonok, Vera, Millecamps, Stéphanie, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Franke, Andre, Mcrae, Allan F., Rowe, Dominic B., Peotta, Laura, Cooper-Knock, Johnathan, Glavač, Damjan, Doherty, Mark, Rietschel, Marcella, Stević, Zorica, Drory, Vivian, Meininger, Vincent, Zarrelli, Michele, Povedano, Monica, Gaunt, Tom R., Steyn, Frederik J., Williams, Kelly L., Smith, Bradley N., Cugnasco, Paolo, Papurello, Diego Maria, Nozzoli, Cecilia, Sorarù, Gianni, Mather, Karen A., Ripke, Stephan, Nöthen, Markus M., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, Carvalho, Mamede de, Gromicho, Marta, Pinto, Susana, Marco, Giovanni de, Al Khleifat, Ahmad, Eberle, Michael A., Braun, Alice, Gusmaroli, Graziano, Siciliano, Gabriele, Petri, Susanne, Breen, Gerome, Weber, Markus, Rouleau, Guy A., Rojas García, Ricardo, Silani, Vincenzo, Amouyel, Philippe, Ghiglione, Paolo, Davey Smith, George, Curtis, Charles J., Shatunov, Aleksey, Mill, Jonathan, Mclaughlin, Russell L., Filosto, Massimiliano, Comi, Cristoforo, Gerfo, Annalisa lo, Ferlini, Alessandra, Riva, Nilo, Mora Pardina, Jesus S., Chiveri, Luca, Hardiman, Orla, Torrieri, Maria Claudia, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Padovani, Alessandro, Chandran, Siddharthan, Al Chalabi, Ammar, Assialioui, Abdelilah, Labate, Carmelo, Damme, Philip van, Ticozzi, Nicola, Palumbo, Francesca, Inghilleri, Maurizio, Chiò, Adriano, Pal, Suvankar, Lunetta, Christian, Jörk, Alexander, Cichon, Sven, Kraft, Julia, Morrison, Karen E., Ruiz, Luigi, Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Dion, Patrick A., Calvo, Andrea, Kooyman, Maarten, Başak, Nazli, Gerardi, Francesca, Simone, Isabella L., Kooi, Anneke J. van der, Ratti, Antonia, Ferrandi, Delfina, Fogh, Isabella, Ludolph, Albert C., Moglia, Cristina, Brunetti, Maura, Diamanti, Luca, Barthel, Tabea, Blair, Ian P., Es, Michael A. van, Gallone, Salvatore, Canosa, Antonio, Guerra, Vito, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Ferrarese, Carlo, Nefussy, Beatrice, Theele, Erik, Rinaldi, Fabrizio, Weishaupt, Jochen H., Kiernan, Matthew C., Barberis, Marco, Osmanovic, Alma, Baloh, Robert H., Nordin, Angelica, Lerner, Yossef, Vito, Nicoletta di, Zabari, Michal, Zoccolella, Stefano, Heverin, Mark, Gotkine, Marc, Guaita, Maria Cristina, Brenner, David, Freischmidt, Axel, Sbaiz, Luca, Benyamin, Beben, Glass, Jonathan D., Landers, John E., Tazelaar, Gijs H. P., Rota, Eugenia, Bensimon, Gilbert, Ilse, Benjamin, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Gentile, Salvatore, Moisse, Matthieu, Topp, Simon, Henderson, Robert D., Rademakers, Rosa, Perrone, Patrizia, Stubendorff, Beatrice, Brown, Robert H., Restuadi, Restuadi, Tremolizzo, Lucio, Mundi, Ciro, Berg, Leonard H. van den, Passarella, Bruno, Delodovici, Maria Luisa, Furlong, Sarah, Bono, Giorgio, Manera, Umberto, Vasta, Rosario, Bombaci, Alessandro, Meineri, Piero, Mauro, Alessandro, Hannon, Eilis, Casale, Federico, Leone, Maurizio, Shaw, Christopher E., Fuda, Giuseppe, Salamone, Paolina, Mathers, Susan, Baird, Denis, Launaro, Nicola, Marchi, Fabiola de, Veldink, Jan H., Gellera, Cinzia, Salachas, François, Witte, Otto W., Andersen, Peter M., Bertolotto, Antonio, Gionco, Maurizio, Leotta, Daniela, Odddenino, Enrico, Slalom Consortium, Tamma, Filippo, Dotta, Michele, Lauria, Giuseppe, Steinbach, Robert, Imperiale, Daniele, Geda, Claudio, Dolzhenko, Egor, Cavallo, Roberto, Pignatta, Pietro, Groen, Ewout J. N., Cotelli, Maria Sofia, Mattei, Marco de, Calabrese, Gianluigi, Sapio, Alessia di, Giardini, Guido, Hübner, Christian A., Corti, Stefania, Bell, Shaughn, Comi, Giancarlo, Mccombe, Pamela A., Tiloca, Cinzia, Parals Consortium, Gawor, Klara, Peverelli, Silvia, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Graff, Caroline, Comi, Giacomo P., Cereda, Cristina, Bo, Roberto del, Boero, Giovanni, Slagen Consortium, Vourc’h, Patrick, Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), van Rheenen, Wouter, van der Spek, Rick AA, Bakker, Mark K, van Vugt, Joke JFA, Benyamin, Beben, Veldink, Jan H, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, van Rheenen, W, van der Spek, R, Bakker, M, van Vugt, J, Hop, P, Zwamborn, R, de Klein, N, Westra, H, Bakker, O, Deelen, P, Shireby, G, Hannon, E, Moisse, M, Baird, D, Restuadi, R, Dolzhenko, E, Dekker, A, Gawor, K, Westeneng, H, Tazelaar, G, van Eijk, K, Kooyman, M, Byrne, R, Doherty, M, Heverin, M, Al Khleifat, A, Iacoangeli, A, Shatunov, A, Ticozzi, N, Cooper-Knock, J, Smith, B, Gromicho, M, Chandran, S, Pal, S, Morrison, K, Shaw, P, Hardy, J, Orrell, R, Sendtner, M, Meyer, T, Basak, N, van der Kooi, A, Ratti, A, Fogh, I, Gellera, C, Lauria, G, Corti, S, Cereda, C, Sproviero, D, D'Alfonso, S, Soraru, G, Siciliano, G, Filosto, M, Padovani, A, Chio, A, Calvo, A, Moglia, C, Brunetti, M, Canosa, A, Grassano, M, Beghi, E, Pupillo, E, Logroscino, G, Nefussy, B, Osmanovic, A, Nordin, A, Lerner, Y, Zabari, M, Gotkine, M, Baloh, R, Bell, S, Vourc'H, P, Corcia, P, Couratier, P, Millecamps, S, Meininger, V, Salachas, F, Mora Pardina, J, Assialioui, A, Rojas-Garcia, R, Dion, P, Ross, J, Ludolph, A, Weishaupt, J, Brenner, D, Freischmidt, A, Bensimon, G, Brice, A, Durr, A, Payan, C, Saker-Delye, S, Wood, N, Topp, S, Rademakers, R, Tittmann, L, Lieb, W, Franke, A, Ripke, S, Braun, A, Kraft, J, Whiteman, D, Olsen, C, Uitterlinden, A, Hofman, A, Rietschel, M, Cichon, S, Nothen, M, Amouyel, P, Traynor, B, Singleton, A, Mitne Neto, M, Cauchi, R, Ophoff, R, Wiedau-Pazos, M, Lomen-Hoerth, C, van Deerlin, V, Grosskreutz, J, Roediger, A, Gaur, N, Jork, A, Barthel, T, Theele, E, Ilse, B, Stubendorff, B, Witte, O, Steinbach, R, Hubner, C, Graff, C, Brylev, L, Fominykh, V, Demeshonok, V, Ataulina, A, Rogelj, B, Koritnik, B, Zidar, J, Ravnik-Glavac, M, Glavac, D, Stevic, Z, Drory, V, Povedano, M, Blair, I, Kiernan, M, Benyamin, B, Henderson, R, Furlong, S, Mathers, S, Mccombe, P, Needham, M, Ngo, S, Nicholson, G, Pamphlett, R, Rowe, D, Steyn, F, Williams, K, Mather, K, Sachdev, P, Henders, A, Wallace, L, de Carvalho, M, Pinto, S, Petri, S, Weber, M, Rouleau, G, Silani, V, Curtis, C, Breen, G, Glass, J, Brown, R, Landers, J, Shaw, C, Andersen, P, Groen, E, van Es, M, Pasterkamp, R, Fan, D, Garton, F, Mcrae, A, Davey Smith, G, Gaunt, T, Eberle, M, Mill, J, Mclaughlin, R, Hardiman, O, Kenna, K, Wray, N, Tsai, E, Runz, H, Franke, L, Al-Chalabi, A, Van Damme, P, van den Berg, L, Veldink, J, Ferrarese, C, Neurology, ANS - Neuroinfection & -inflammation, APH - Methodology, APH - Quality of Care, EURO-NMD, Internal Medicine, Epidemiology, Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), van Rheenen, W., Van der Spek, R.A.A., Bakker, M.K., van Vugt, J.J.F.A., Hop, P.J., Zwamborn, R.A.J., de Klein, N., Westra, H.J., Bakker, O.B., Deelen, P., Shireby, G., Hannon, E., Moisse, M., Baird, D., Restuadi, R., Dolzhenko, E., Dekker, A.M., Gawor, K., Westeneng, H.J., Tazelaar, G.H.P., van Eijk, K.R., Kooyman, M., Byrne, R.P., Doherty, M., Heverin, M., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Ticozzi, N., Cooper-Knock, J., Smith, B.N., Gromicho, M., Chandran, S., Pal, S., Morrison, K.E., Shaw, P.J., Hardy, J., Orrell, R.W., Sendtner, M., Meyer, T., van der Kooi, A.J., Ratti, A., Fogh, I., Gellera, C., Lauria, G., Corti, S., Cereda, C., Sproviero, D., D'Alfonso, S., Sorarù, G., Siciliano, G., Filosto, M., Padovani, A., Chiò, A., Calvo, A., Moglia, C., Brunetti, M., Canosa, A., Grassano, M., Beghi, E., Pupillo, E., Logroscino, G., Nefussy, B., Osmanovic, A., Nordin, A., Lerner, Y., Zabari, M., Gotkine, M., Baloh, R.H., Bell, S., Vourc'h, P., Corcia, P., Couratier, P., Millecamps, S., Meininger, V., Salachas, F., Mora Pardina, J.S., Assialioui, A., Rojas-García, R., Dion, P.A., Ross, J.P., Ludolph, A.C., Weishaupt, J.H., Brenner, D., Freischmidt, A., Bensimon, G., Brice, A., Durr, A., Payan, C.A.M., Saker-Delye, S., Wood, N.W., Topp, S., Rademakers, R., Tittmann, L., Lieb, W., Franke, A., Ripke, S., Kraft, J.,Whiteman, David C., Olsen, Catherine M., Uitterlinden, A.G., Hofman, A., Rietschel, M., Cichon, S., Nothen, M.M., Amouyel, P., Comi, G., Riva, N., Lunetta, C., Gerardi, F., Cotelli, M.S., Rinaldi, F., Chiveri, L., Guaita, M.C., Perrone, P., Ceroni, M., Diamanti, L., Ferrarese, C., Tremolizzo, L., Delodovici, M.L., Bono, G., Manera, U., Vasta, R., Bombaci, A., Casale, F., Fuda, G., Salamone, P., Iazzolino, B., Peotta, L., Cugnasco, P., De Marco, G., Torrieri, M.C., Palumbo, F., Gallone, S., Barberis, M., Sbaiz, L., Gentile, S., Mauro, A., Mazzini, L., De Marchi, F., Corrado, L., Bertolotto, A., Gionco, M., Leotta, D., Odddenino, E., Imperiale, D., Cavallo, R., Pignatta, P., De Mattei, M., Geda, C., Papurello, D.M., Gusmaroli, G., Comi, C., Labate, C., Ruiz, L., Ferrandi, D., Rota, E., Aguggia, M., Di Vito, N., Meineri, P., Ghiglione, P., Launaro, N., Dotta, M., Di Sapio, A., Giardini, G., Tiloca, C., Peverelli, S., Taroni, F., Pensato, V., Castellotti, B., Comi, G.P., Del Bo, R., Gagliardi, S., Raggi, F., Simoncini, C., Lo Gerfo, A., Inghilleri, M., Ferlini, A., Simone, I.L., Passarella, B., Guerra, V., Zoccolella, S., Nozzoli, C., Mundi, C., Leone, M., Zarrelli, M., Tamma, F., Valluzzi, F., Calabrese, G., Boero, G., Rini, A., Traynor, B.J., Singleton, A.B., Neto, M.M., Cauchi, R.J., Ophoff, R.A., Wiedau-Pazos, M., Lomen-Hoerth, C., van Deerlin, V.M., Grosskreutz, J., Roediger, A., Gaur, N., Jork, A., Barthel, T., Theele, E., Ilse, B., Stubendorff, B., Witte, O.W., Steinbach, R., Hubner, C.A., Graff, C., Brylev, L., Fominykh, V., Demeshonok, V., Ataulina, A., Rogelj, B., Koritnik, B., Zidar, J., Ravnik-Glavac, M., Glavac, D., Stevic, Z., Drory, V., Povedano, M., Blair, I.P., Kiernan, M.C., Benyamin, B., Henderson, R.D., Furlong, S., Mathers, S., McCombe, P.A, Needham, M., Ngo, S.T., Nicholson, G.A., Pamphlett, R., Rowe, D.B., Steyn, F.J., Williams, K.L., Mather, K.A., Sachdev, P.S., Henders, A.K., Wallace, L., de Carvalho, M., Pinto, S., Petri, S., Weber, M., Rouleau, G.A., Silani, V., Curtis, C.J., Breen, G., Glass, J.D., Brown, R.H., Landers, J.E., Shaw, C.E., Andersen, P.M., Groen, E.J.N, van Es, M.A., Pasterkamp, R.J., Fan, D.S., Garton, F.C., McRae, A.F., Smith, G.D., Gaunt, T.R., Eberle, M.A., Mill, J., McLaughlin, R.L., Hardiman, O., Kenna, K.P., Wray, N.R., Tsai, E.L., Runz, H., Franke, L., Al-Chalabi, A., Van Damme, P., van den Berg, L.H., Veldink, J.H., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), and School of Medicine
Subjects: Male, Genetics and heredity, amyotrophic lateral sclerosis, Neurologi, Glutamine, Medizin, Genome-wide association study, Disease, SUSCEPTIBILITY, Genome-wide association studies, DISEASE, Genètica mèdica, 0302 clinical medicine, neurodegenerative disease, genome-wide association study, ALS, gene, autophagy, Risk Factors, amyotrophic lateral sclerosi, RNA-Seq, Amyotrophic lateral sclerosis, disease-modifying therapies, blood [Cholesterol], Genetics, Genetics & Heredity, Neurons, 0303 health sciences, Medical genetics, Neurodegenerative diseases, Genome-wide association, Mendelian randomization, Frontotemporal dementia, Hexanucleotide repeat, Mutant SOD1, Metaanalysis, ALS, Susceptibility, Identification, Brain, Amyotrophic Lateral Sclerosis, Cholesterol, Disease Progression, Female, Humans, Mendelian Randomization Analysis, Microsatellite Repeats, Neurodegenerative Diseases, Quantitative Trait Loci, Genome-Wide Association Study, Mutation, MUTANT SOD1, genetics [Amyotrophic Lateral Sclerosis], medicine.anatomical_structure, Neurology, risk factor, metabolism [Neurons], MENDELIAN RANDOMIZATION, nerve cell, Life Sciences & Biomedicine, quantitative trait locu, Biology, 03 medical and health sciences, Amyotrophic lateral sclerosis -- Diagnosis, blood, ddc:570, medicine, degenerative disease, Motor neuron disease, human, Genomes, GENOME-WIDE ASSOCIATION, gene, Gene, metabolism [Glutamine], METAANALYSIS, 030304 developmental biology, Mendelian randomization analysi, Science & Technology, HEXANUCLEOTIDE REPEAT, meta analysi, IDENTIFICATION, metabolism [Amyotrophic Lateral Sclerosis], FRONTOTEMPORAL DEMENTIA, medicine.disease, metabolism [Brain], genetics [Neurodegenerative Diseases], Expression quantitative trait loci, disease exacerbation, Neuron, gemone, genetic, Vesicle-mediated transport, metabolism, Nervous system -- Degeneration, Esclerosi lateral amiotròfica, 030217 neurology & neurosurgery
Abstract: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons., Dutch Research Council (NWO); VENI Scheme Grant; VIDI Grant; Prinses Beatrix Spierfonds; Neuromuscular Fellowship Grant; Medical Research Council (MRC); Clinical Infrastructure Award; Epidemiology Unit; Integrative Epidemiology Unit; Canadian Institutes of Health Research; IWT; National Institute on Aging; National Health and Medical Research Council (NHMRC); Enabling Grant; NHMRC/Australian Research Council Strategic Award; NHMRC; NHMRC Centre of Research Excellence Grant; National Health and Medical Research Council of Australia (NHMRC) Research Fellowship; United Kingdom, Medical Research Council; Economic and Social Research Council; European Union (EU); Horizon 2020; European Community's Health Seventh Framework Programme; EuroMOTOR; European Research Council (ERC); Research and Innovation Programme; EScORIAL; ALS Foundation Netherlands; Alzheimer’s Society PhD Studentship; ARSla Funding; Biogen; University of Bristol; Motor Neurone Disease Association (MNDA); NIHR Maudsley Biomedical Research Centre; Dutch Ministry of Education, Culture, and Science; Netherlands Organization for Scientific Research (NWO; BRAINSCAPES); Gravitation Program; ALS Liga België; National Lottery of Belgium; KU Leuven Opening the Future Fund; KU Leuven Funds, “Een Hart voor ALS”, “Laeversfonds voor ALS Onderzoek” and the “Valéry Perrier Race against ALS Fund”; E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders; ALS Liga België; “Live now” Charity Foundation; Moscow ALS palliative Care Service; Canadian Institutes of Health; Research Australia; Ice Bucket Challenge Grant; NIH Intramural Research Programs; FightMND Mid-Career Fellowship; NIHR Senior Investigator; Sheffield NIHR Biomedical Research Centre; Motor Neurone Disease Association; National Institute for Health Research (NIHR) Biomedical Research Centre; Maudsley NHS Foundation Trust; King’s College London; NIHR Senior Investigator Award; Netherlands Organization for Health Research and Development; Vici Scheme; Netherlands Organization for Health Research and Development STRENGTH Project; PPP Allowance
Published: 2021

33. The TANDEM investigation: efficacy and tolerability of levodopa-carbidopa intestinal gel in (LCIG) advanced Parkinson’s disease patients

Author: Angelo Antonini, Alessandro Stefani, Alfredo Berardelli, Brigida Minafra, Giulio Riboldazzi, Anna Rita Bentivoglio, Cristoforo Comi, Francesca Mancini, Leonardo Lopiano, Paolo Solla, Nicola Tambasco, Donato Melchionda, Giovanni Abbruzzese, Giovanni Fabbrini, Filippo Tamma, Giovanni Cossu, Francesco E. Pontieri, Mariachiara Sensi, Tommaso Martino, Nicola Modugno, Alessandro Tessitore, Italo Stroppa, Antonini, A., Abbruzzese, G., Berardelli, A., Modugno, N., Stroppa, I., Tamma, F., Sensi, M., Mancini, F., Cossu, G., Stefani, A., Tambasco, N., Tessitore, A., Fabbrini, G., Pontieri, F. E., Solla, P., Bentivoglio, A. R., Comi, C., Minafra, B., Riboldazzi, G., Melchionda, D., Martino, T., and Lopiano, L.
Subjects: 0301 basic medicine, Male, Quality of life, medicine.medical_specialty, Parkinson's disease, Movement disorders, Activities of daily living, Neurology, Motor symptoms, Levodopa-carbidopa intestinal gel, Settore MED/26, Antiparkinson Agents, Levodopa, 03 medical and health sciences, 0302 clinical medicine, Motor symptom, Internal medicine, Activities of Daily Living, medicine, Humans, Biological Psychiatry, Dystonia, business.industry, Infant, Newborn, Carbidopa, Parkinson Disease, Routine patient follow-up, medicine.disease, Gait, Psychiatry and Mental health, Drug Combinations, 030104 developmental biology, Tolerability, Parkinson’s disease, Female, Neurology (clinical), medicine.symptom, business, Gels, 030217 neurology & neurosurgery
Abstract: The TANDEM investigation was carried out in 17 Italian Movement Disorder centers on behalf of a joint initiative of neurologist members of the Italian Academy for Parkinson’s disease and Movement Disorders (LIMPE-DISMOV Academy) and gastroenterologist members of the Italian Society of Digestive Endoscopy (SIED) to evaluate the efficacy and tolerability of levodopa-carbidopa intestinal gel (LCIG) in patients with advanced Parkinson's disease (PD) in routine medical care. Motor scores in “ON” and OFF” state (UPDRS-III), complications of therapy (UPDRS-IV), activities of daily living, sleep disorders and quality of life were evaluated at baseline and at two follow-up assessments (FUV1 and FUV2) within the initial 12-month LCIG treatment. In 159 patients (55% males) with a mean age of 69.1 ± 6.6years and a diagnosis of PD since 13.6 ± 5.5years, the UPDRS-III total score (in “OFF”) decreased from baseline (45.8 ± 13.2) to FUV1 (41.0 ± 17.4; p < 0.001) and FUV2 (40.5 ± 15.5; p < 0.001), the UPDRS-IV total score decreased from baseline (8.8 ± 2.9) to FUV1 (5.1 ± 3.4; p < 0.001) and FUV2 (5.5 ± 3.2; p < 0.001). The percentage of patients exhibiting freezing, dystonia, gait/walking disturbances, falls, pain and sleep disorders was significantly reduced. Twenty-eight device complications were reported and 11 (6.9%) patients prematurely terminated the study. LCIG after 12-month treatment led to sustained improvement of time spent in “OFF”, complications of therapy, PD-associated symptoms and sleep disorders. LCIG tolerability was consistent with the established safety profile of LCIG.
Published: 2020

34. Deep brain stimulation in Parkinson's disease: A multicentric, long-term, observational pilot study

Author: Luca Weis, E. Caputo, Nicolò Gabriele Pozzi, Filippo Tamma, Claudio Pacchetti, Andrea Marcante, Elisa Bianchi, Caterina F. Bagella, Francesco Lena, Sara Marceglia, Leonardo Lopiano, Emma Scelzo, Ettore Beghi, Serena Angrisano, Manuela Pilleri, Maurizio Zibetti, Angelo Antonini, Manuela Rosa, Francesco Massaro, Luigi Romito, Alberto Priori, Marco Santilli, Nicola Modugno, Scelzo, E., Beghi, E., Rosa, M., Angrisano, S., Antonini, A., Bagella, C., Bianchi, E., Caputo, E., Lena, F., Lopiano, L., Marcante, A., Marceglia, S., Massaro, F., Modugno, N., Pacchetti, C., Pilleri, M., Pozzi, N. G., Romito, L. M., Santilli, M., Tamma, F., Weis, L., Zibetti, M., and Priori, A.
Subjects: Male, Pediatrics, medicine.medical_specialty, Parkinson's disease, Deep brain stimulation, Dementia, Falls, Non-motor symptoms, Urinary symptoms, Urinary system, medicine.medical_treatment, Deep Brain Stimulation, Urinary incontinence, Pilot Projects, Non-motor symptom, 03 medical and health sciences, 0302 clinical medicine, Fall, medicine, Nocturia, Humans, 030212 general & internal medicine, Prospective cohort study, Aged, Retrospective Studies, business.industry, Parkinson Disease, Middle Aged, medicine.disease, Hospitalization, Neurology, Case-Control Studies, Cohort, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: Background The impact of deep brain stimulation (DBS) on cognitive and urinary disorders, falls, and eventually hospitalizations and mortality in Parkinson's disease (PD) is still debated. Objective We compared the rates of dementia, mild cognitive impairment (MCI), urinary incontinence, nocturia, falls, hospitalizations, and mortality in a cohort of PD patients undergoing DBS with a cohort of medically-treated patients chosen as controls. Methods We conducted a retrospective pilot study in six Italian DBS centers. 91 PD patients receiving DBS and 91 age- and gender-matched controls receiving the best medical treatment alone with a minimum follow-up of one year were enrolled. Clinical data were collected from baseline to the last follow-up visit using an ad-hoc developed web-based system. Results The risk of dementia was similar in the two groups while patients in the surgical cohort had lower rates of MCI, urinary incontinence, nocturia, and falls. In contrast, the risk of hospital admissions related to PD was higher in the surgical cohort. However, when excluding hospitalizations related to DBS surgery, the difference between the two cohorts was not significant. The surgical cohort had a lower number of hospitalizations not related to PD. The risk of death was similar in the two groups. Conclusion Despite a higher risk of hospitalization, patients receiving DBS had a lower rate of MCI, urinary incontinence, nocturia and falls, without evidence of an increased risk of dementia and mortality. Although these findings need to be confirmed in prospective studies, they seem to suggest that DBS may play a significant role in the management of non-motor symptoms and common complications of advanced PD.
Published: 2018

35. The effects of levodopa and ongoing deep brain stimulation on subthalamic beta oscillations in Parkinson's disease

Author: Sergio Barbieri, Lorenzo Rossi, Gaia Giannicola, Alberto Priori, Filippo Cogiamanian, Simona Mrakic-Sposta, Sara Marceglia, Filippo Tamma, Paolo Rampini, Giannicola, G, Marceglia, S, Rossi, L, Mrakic-Sposta, S, Rampini, P, Tamma, F, Cogiamanian, F, Barbieri, S, and Priori, A.
Subjects: Male, Parkinson's disease, Data Interpretation, medicine.medical_treatment, Deep Brain Stimulation, Longitudinal Studie, Neurosurgical Procedure, Neurosurgical Procedures, Levodopa, Antiparkinson Agents, Stereotaxic Techniques, Beta Rhythm, Longitudinal Studies, Tomography, Local field potentials, Parkinson Disease, Statistical, Middle Aged, Combined Modality Therapy, Magnetic Resonance Imaging, X-Ray Computed, Algorithm, Subthalamic nucleus, Subthalamic oscillations, surgical procedures, operative, Neurology, Antiparkinson Agent, Subthalamic Nucleu, Data Interpretation, Statistical, Cardiology, Stereotaxic Technique, Female, therapeutics, Algorithms, medicine.drug, Human, medicine.medical_specialty, Beta rhythm, Deep brain stimulation, behavioral disciplines and activities, Developmental Neuroscience, Subthalamic Nucleus, Internal medicine, medicine, Humans, Tomography, X-Ray Computed, Beta (finance), Local field potential, business.industry, medicine.disease, nervous system diseases, Electrophysiology, nervous system, Stereotaxic technique, Subthalamic oscillation, business, Neuroscience
Abstract: Local field potentials (LFPs) recorded through electrodes implanted in the subthalamic nucleus (STN) for deep brain stimulation (DBS) in patients with Parkinson's disease (PD) show that oscillations in the beta frequency range (8-20 Hz) decrease after levodopa intake. Whether and how DBS influences the beta oscillations and whether levodopa- and DBS-induced changes interact remains unclear. We examined the combined effect of levodopa and DBS on subthalamic beta LFP oscillations, recorded in nine patients with PD under four experimental conditions: without levodopa with DBS turned off; without levodopa with DBS turned on; with levodopa with DBS turned on; and with levodopa with DBS turned off. The analysis of STN-LFP oscillations showed that whereas levodopa abolished beta STN oscillations in all the patients (p=0.026), DBS significantly decreased the beta oscillation only in five of the nine patients studied (p=0.043). Another difference was that whereas levodopa completely suppressed beta oscillations, DBS merely decreased them. When we combined levodopa and DBS, the levodopa-induced beta disruption prevailed and combining levodopa and DBS induced no significant additive effect (p=0.500). Our observations suggest that levodopa and DBS both modulate LFP beta oscillations.
Published: 2010

36. Extracellular spike microrecordings from the subthalamic area in Parkinson's disease

Author: Paolo Rampini, Alberto Priori, Filippo Tamma, Sara Marceglia, Simona Mrakic-Sposta, Filippo Cogiamanian, E. Accolla, Sergio Barbieri, Guglielmo Foffani, M. Egidi, Giorgio Carrabba, Marco Locatelli, Mrakic-Sposta, S, Marceglia, S, Egidi, M, Carrabba, G, Rampini, P, Locatelli, M, Foffani, G, Accolla, E, Cogiamanian, F, Tamma, F, Barbieri, S, Priori, A, and Mrakic Sposta, S
Subjects: Adult, Male, Parkinson's disease, Deep Brain Stimulation, Action Potentials, Electroencephalography, Stereotaxic Techniques, Stereotactic neurosurgery, Subthalamic Nucleus, Physiology (medical), Intraoperative monitoring, Microrecordings, Subthalamic nucleus, Aged, Brain Mapping, Electrodes, Implanted, Female, Humans, Magnetic Resonance Imaging, Middle Aged, Neurons, Parkinson Disease, Neurology (clinical), Psychiatry and Mental Health, Neurology, Medicine, Action Potential, Electrodes, medicine.diagnostic_test, business.industry, Subthalamic nucleu, General Medicine, Neurophysiology, Neuron, Spike amplitude, medicine.disease, Rise time, Microrecording, Surgery, Spike (software development), Stereotaxic Technique, Implanted, business, Neuroscience, Human
Abstract: Intraoperative neuronal microrecordings can help in localizing the subthalamic nucleus (STN) during stereotactic neurosurgery for deep-brain stimulation (DBS) in Parkinson's disease. To obtain quantitative information on neuronal spike descriptors, we systematically analysed neuronal spikes in the STN and substantia nigra pars reticulata (SNr) in 31 sides of the brain in awake patients undergoing stereotactic neurosurgery for DBS electrode implantation. In these two structures we evaluated spike amplitude, area, duration, rise time and mean total firing rate. The recording spike density was higher in the STN than in the SNr (94% vs. 28%). Microelectrode recordings showed a larger spike area and amplitude in the SNr than in the STN ([mean+/-SD] amplitude: 46.7+/-31.1 vs. 36.3+/-29.6 microV; area: 25.6+/-24.2 vs. 36.7+/-21.4 microVmsec), a higher total firing rate at rest in the SNr than in the STN (78.6+/-53.5 vs. 61.9+/-40.8 Hz), and a longer duration and rise time in the SNr than in the STN (duration: 2.0+/-1 vs. 1.3+/-0.6 ms; rise time: 0.95+/-0.6 vs. 0.67+/-0.3 ms). Our analysis also revealed sex-related differences in the studied spike descriptors, paralleling recent findings from deep electroencephalography recordings. In the STN, males had larger spike area and amplitude (amplitude: 41.97+/-32.57 vs. 26.2+/-19.7 microV; area: 31.8+/-26.4 vs. 13.0+/-10.6 microVmsec), whereas females had higher mean total firing rate (66.7+/-53.4 vs. 82.8+/-50.8 Hz). Our results have implications for clinical practice and the development of algorithms for the neurophysiological identification of the STN during stereotactic neurosurgery for Parkinson's disease, based on the on-line automated computation of multiple spike-variables.
Published: 2008

37. Subthalamic local field potential oscillations during ongoing deep brain stimulation in Parkinson's disease

Author: L. Rossi, S. Marceglia, G. Foffani, F. Cogiamanian, F. Tamma, P. Rampini, S. Barbieri, F. Bracchi, A. Priori, Rossi, L., Marceglia, SARA RENATA FRANCESCA, Foffani, G., Cogiamanian, F., Tamma, F., Rampini, P., Barbieri, S., Bracchi, F., and Priori, A.
Subjects: Levodopa, Parkinson's disease, Deep brain stimulation, medicine.medical_treatment, Deep Brain Stimulation, Local field potential, Antiparkinson Agents, Electrical polarization, Local field potentials, Subthalamic nucleus, Humans, Middle Aged, Subthalamic Nucleus, Parkinson Disease, Neuroscience (all), Network level, Basal ganglia, medicine, General Neuroscience, medicine.disease, nervous system diseases, surgical procedures, operative, nervous system, Antiparkinson Agent, Subthalamic Nucleu, Heart beat, Psychology, therapeutics, Neuroscience, medicine.drug, Human
Abstract: How deep brain stimulation (DBS) acts and how the brain responds to it remains unclear. To investigate the mechanisms involved, we analyzed changes in local field potentials from the subthalamic area (STN-LFPs) recorded through the deep brain macroelectrode during monopolar DBS of the subthalamic nucleus area (STN-DBS) in a group of eight patients (16 nuclei) with idiopathic Parkinson's disease. Monopolar STN-DBS was delivered through contact 1 and differential LFP recordings were acquired between contacts 0 and 2. The stimulating contact was 0.5 mm away from each recording contact. The power spectral analysis of STN-LFPs showed that during ongoing STN-DBS whereas the power of beta oscillations (8–20 Hz) and high beta oscillations (21–40 Hz) remained unchanged, the power of low-frequency oscillations (1–7 Hz) significantly increased (baseline = 0.37 ± 0.22; during DBS = 7.07 ± 15.10, p = 0.0003). Despite comparable low-frequency baseline power with and without levodopa, the increase in low-frequency oscillations during STN-DBS was over boosted by pretreatment with levodopa. The low-frequency power increase in STN-LFPs during ongoing STN-DBS could reflect changes induced at basal ganglia network level similar to those elicited by levodopa. In addition, the correlation between the heart beat and the low-frequency oscillations suggests that part of the low-frequency power increase during STN-DBS arises from polarization phenomena around the stimulating electrode. Local polarization might in turn also help to normalize STN hyperactivity in Parkinson's disease.
Published: 2008

38. Gender differences in patients with Parkinson's disease treated with subthalamic deep brain stimulation

Author: Filippo Tamma, E. Caputo, Sara Marceglia, E. Accolla, Filippo Cogiamanian, Simona Mrakic-Sposta, M. Egidi, Paolo Rampini, Marco Locatelli, Alberto Priori, Accolla, E, Caputo, E, Cogiamanian, F, Tamma, F, Mrakic-Sposta, S, Marceglia, S, Egidi, M, Rampini, P, Locatelli, M, and Priori, A.
Subjects: Adult, Male, medicine.medical_specialty, Levodopa, Activities of daily living, Parkinson's disease, Deep brain stimulation, medicine.medical_treatment, Deep Brain Stimulation, Sex Factor, Hypokinesia, Neurosurgical Procedure, Severity of Illness Index, Neurosurgical Procedures, Central nervous system disease, Degenerative disease, Sex Factors, Subthalamic Nucleus, Internal medicine, Preoperative Care, medicine, Prevalence, Humans, Age of Onset, Neuroscience (all), Dopaminergic, Gender, Subthalamic nucleus, Brain, Female, Middle Aged, Parkinson Disease, Neurology (clinical), Subthalamic nucleu, medicine.disease, nervous system diseases, surgical procedures, operative, nervous system, Neurology, Physical therapy, Psychology, Human, medicine.drug
Abstract: We investigated gender-differences in clinical phenomenology and response to deep brain stimulation (DBS) of the subthalamic nucleus (STN) in a group of patients with advanced Parkinson's disease (PD). Thirty-eight consecutive patients with PD (22 men and 16 women), bilaterally implanted for DBS of the STN, were evaluated 1 month before and 11 to 14 months after surgery. Gender differences in severity of the disease (HY and UPDRS), ability in the activities of daily living (ADL, UPDRS II), tremor and rigidity (UPDRS III), bradykinesia (UPDRS III and hand tapping test), levodopa-induced dyskinesias (LIDs, UPDRS IV), and levodopa equivalent daily dosage (LEDD) were analyzed before and after intervention. We found a predominantly male population, with no gender-related differences in age at onset, disease progression rate, or severity of disease. Nevertheless, women had more severe LIDs than men, only before the intervention. Bradykinesia was significantly less responsive to any kind of treatment (pharmacologic and neurosurgical) in women than in men. Finally, although STN-DBS induced similar total benefits in both genders, postoperative assessment suggested that the ADL improved more in women than in men. Women and men with advanced PD appear to differ in some clinical features and in response to dopaminergic and STN-DBS treatment.
Published: 2007

39. Low-frequency subthalamic oscillations increase after deep brain stimulation in Parkinson's disease

Author: Guglielmo Foffani, Gianluca Ardolino, Simona Mrakic-Sposta, Filippo Tamma, Sara Marceglia, Marco Locatelli, Lorenzo Rossi, Priori, A1, Ardolino, G, Marceglia, S, Mrakic-Sposta, S, Locatelli, M, Tamma, F, Rossi, L, and Foffani, G.
Subjects: STN, Male, Parkinson's disease, medicine.medical_treatment, Deep Brain Stimulation, Electrode, Action Potentials, DBS, LFP, Local field potential, Audiology, Subthalamic nucleus, Basal Ganglia, LFPs, Neural Pathways, Basal ganglia, Clinical efficacy, Local field potentials, General Neuroscience, Subthalamic nucleu, Parkinson Disease, Middle Aged, surgical procedures, operative, Treatment Outcome, Artifact, Female, Artifacts, Psychology, therapeutics, Human, Adult, medicine.medical_specialty, Deep brain stimulation, Biological Clock, Neural Pathway, Biological Clocks, medicine, Humans, In patient, Action Potential, Electrodes, Aged, Neuroscience (all), Neurophysiology, medicine.disease, nervous system diseases, nervous system, Nerve Net, Subthalamic Nucleus, Neuroscience
Abstract: This work is the second of a series of papers in which we investigated the neurophysiological basis of deep brain stimulation (DBS) clinical efficacy using post-operative local field potential (LFP) recordings from DBS electrodes implanted in the subthalamic nucleus (STN) in patients with Parkinson's disease. We found that low-frequency (1–1.5 Hz) oscillations in LFP recordings from the STN of patients with Parkinson's disease dramatically increase after DBS of the STN itself (log power change = 0.93 ± 0.62; Wilcoxon: p = 0.0002, n = 13), slowly decaying to baseline levels after turning DBS off. The DBS-induced increase of low-frequency LFP oscillations is highly reproducible and appears only after the delivery of DBS for a time long enough to induce clinical improvement. This increase of low-frequency LFP oscillations could reflect stimulation-induced modulation of network activity or could represent changes of the electrochemical properties at the brain–electrode interface.
Published: 2006

40. Cerebrospinal fluid levels of diazepam-binding inhibitor in neurodegenerative disorders with dementia

Author: S. Meregalli, Carlo Ferrarese, Ildebrando Appollonio, R. Piolti, L. Frattola, Maura Frigo, Filippo Tamma, Ferrarese, C, Appollonio, I, Frigo, M, Meregalli, S, Piolti, R, Tamma, F, and Frattola, L
Subjects: Adult, Male, medicine.medical_specialty, Pathology, BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA, Radioimmunoassay, Neuropeptide, Disease, Cerebrospinal fluid, Cognition, Alzheimer Disease, Reference Values, Internal medicine, mental disorders, medicine, Dementia, Humans, Reference Value, Chromatography, High Pressure Liquid, MED/26 - NEUROLOGIA, Diazepam Binding Inhibitor, business.industry, Neuropeptides, Chorea, Parkinson Disease, Middle Aged, medicine.disease, nervous system diseases, Endocrinology, Huntington Disease, Mood Alteration, GABAergic, Female, Neurology (clinical), medicine.symptom, business, Diazepam binding inhibitor, Human
Abstract: We investigated CSF levels of diazepam-binding inhibitor (DBI), a recently discovered neuropeptide that allosterically modulates GABAergic transmission, in various neurodegenerative disorders with dementia (28 patients with Parkinson's disease, 10 with Alzheimer's disease, 7 with Huntington's chorea). We applied a battery of neuropsychological tests to determine the degree of dementia and to exclude the presence of mood alterations. CSF DBI levels were elevated in parkinsonian subjects with dementia and in patients with Alzheimer's disease, but decreased in Huntington's chorea patients. We hypothesize that modifications of CSF DBI levels may be related to a functional or structural alteration of the GABAergic System.
Published: 1990

41. Distribution of a putative endogenous modulator of the GABAergic system in human brain

Author: L. Frattola, Maura Frigo, R. Piolti, Filippo Tamma, Ildebrando Appollonio, Carlo Ferrarese, Ferrarese, C, Appollonio, I, Frigo, M, Piolti, R, Tamma, F, and Frattola, L
Subjects: medicine.medical_specialty, Cerebellum, BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA, medicine.drug_class, Neuropeptide, Peptide, Biology, Internal medicine, Basal ganglia, medicine, Humans, Tissue Distribution, gamma-Aminobutyric Acid, chemistry.chemical_classification, MED/26 - NEUROLOGIA, Brain Chemistry, Diazepam Binding Inhibitor, Benzodiazepine, Neuropeptides, Brain, Human brain, medicine.anatomical_structure, Endocrinology, chemistry, Neurology (clinical), Brainstem, Neuroscience, Diazepam binding inhibitor, Human
Abstract: Diazepam binding inhibitor (DBI) is a novel neuropeptide purified from rat, cow, and human brain that allosterically modulates GABA ergic transmission by binding to benzodiazepine (BDZ)-recognition sites. Using a specific radioimmunoassay for human DBI, we investigated the distribution of this peptide in different brain areas. We characterized with high-pressure liquid chromatography the DBI immunoreactivity in brain tissue obtained by biopsy and autopsy; we detected one molecular species of DBI in both instances. The regional distribution of DBI in the human brain is similar to that observed in rat brain: high concentrations in cortical and limbic areas, cerebellum, and brainstem, and low concentrations in the basal ganglia. These data suggest a modulatory role for DBI in human brain.
Published: 1989

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