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2. 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

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

Author

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

Published
2014

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

9. 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

10. 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

15. 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

16. 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

17. 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

19. 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

20. 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

21. 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

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

Author

Marceglia S, Mrakic-Sposta S, Tommasi G, Bartolomei L, Foresti C, Valzania F, Galati S, Stefani A, Tamma F, Priori A, Marceglia, Sara, Mrakic-Sposta, Simona, Tommasi, Giorgio, Bartolomei, Luigi, Foresti, Camillo, Valzania, Franco, Galati, Salvatore, Stefani, Alessandro, Tamma, Filippo, and Priori, Alberto

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. [ABSTRACT FROM AUTHOR]

Published
2010
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30. 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 L, Chambers M, Antonini, Angelo, Berto, Patrizia, Lopatriello, Stefania, Tamma, Filippo, Annemans, Lieven, and Chambers, Mike

Abstract

Economic evaluation (Italian NHS perspective) modeling (123)I-FP-CIT SPECT (DaTSCAN) compared to clinical judgment alone for differentiating essential tremor (ET) from Parkinson's Disease (PD). A 5-year Markov model was constructed to assess the cost-effectiveness of (123)I-FP-CIT SPECT to differentiate ET from PD in patients referred to a movement disorder specialist in Italy. Published data and a double-round, Delphi panel of 12 specialists populated the model. Effectiveness was expressed as the projected Years on potentially beneficial therapy (PBTYs). Costs were expressed in Euros (2005 values). The model suggests that over 5 years, the "current" diagnostic pathway generated an average of 2.3 PBTYs/patient at an estimated cost of 8,864 euros. (123)I-FP-CIT SPECT generated an average of 4.1 PBTYs/patient at an estimated cost of 8,422 euros, which represented an additional 1.8 PBTYs at a cost saving of 442 euros/patient (341 euros when discounted at 5%). The estimated cost-effectiveness of (123)I-FP-CIT SPECT is under 1,000 euros per PBTY gained when the underlying disease prevalence is high (55-70%), and cost-saving at prevalence under 55%. (123)I-FP-CIT SPECT is likely to be regarded as economically advantageous to differentiate ET from PD, increasing time on potentially beneficial therapy at a lower overall cost to the healthcare system. [ABSTRACT FROM AUTHOR]

Published
2008
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32. Physiological recordings from electrodes implanted in the basal ganglia for deep brain stimulation in Parkinson's disease. The relevance of fast subthalamic rhythms.

Author

Steiger, H.-J., von Wild, Klaus R. H., Foffani, G., Ardolino, G., Rampini, P., Tamma, F., Caputo, E., Egidi, M., Cerutti, S., Barbieri, S., and Priori, A.

Abstract

Deep brain stimulation electrodes implanted in the subthalamic nucleus of patients with Parkinson's disease allow electrophysiological recordings from the human basal ganglia. Subthalamic local field potential recordings revealed the presence of multiple rhythms, from the classical EEG frequency range (<50 Hz), to surprisingly high frequencies (70 Hz and 300 Hz). Fast rhythms are particularly attractive because of their likely interaction with the excitatory mechanisms of action of deep brain stimulation. Here we investigated whether the two rhythms at 70 Hz and at 300 Hz represent distinct modes of operation, and therefore different targets, within the subthalamic nucleus. We retrospectively analyzed the dataset we used to describe the 300 Hz rhythm (Foffani, Priori et al., Brain 126: 2153-2163, 2003) searching for significant 70 Hz oscillations after levodopa administration. Whereas (as previously reported) 300 Hz activity was a consistent feature in the dataset, significant 70 Hz activity was observed in only 2 of 11 nuclei. Therefore, 70 Hz oscillations are not a necessary condition for the presence of 300 Hz oscillations. The two rhythms probably arise from different mechanisms, reflecting different functional and/or spatial aspects of subthalamic pathophysiology. Fast subthalamic oscillations could be exploited for intra-operative electrophysiological monitoring of the subthalamic nucleus, post-operative confirmation of electrode placement and patient-specific ‘reglage' of the electrical parameters for chronic deep brain stimulation. [ABSTRACT FROM AUTHOR]

Published
2005
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38. 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
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39. Subthalamic local field potential oscillations during ongoing deep brain stimulation in Parkinson's disease

Author

Rossi, L., Marceglia, S., Foffani, G., Cogiamanian, F., Tamma, F., Rampini, P., Barbieri, S., Bracchi, F., and Priori, A.

Subjects
*BRAIN stimulation, *PARKINSON'S disease, *ELECTRODES, *DOPA
Abstract

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 0.5mm away from each recording contact. The power spectral analysis of STN-LFPs showed that during ongoing STN-DBS whereas the power of beta oscillations (8–20Hz) and high beta oscillations (21–40Hz) remained unchanged, the power of low-frequency oscillations (1–7Hz) 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. [Copyright &y& Elsevier]

Published
2008
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40. Low-frequency subthalamic oscillations increase after deep brain stimulation in Parkinson's disease

Author

Priori, A., Ardolino, G., Marceglia, S., Mrakic-Sposta, S., Locatelli, M., Tamma, F., Rossi, L., and Foffani, G.

Subjects
*PARKINSON'S disease, *BRAIN function localization, *NEURAL stimulation, *BRAIN diseases
Abstract

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 (1–1.5Hz) 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. [Copyright &y& Elsevier]

Published
2006
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41. 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

42. 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

43. 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

44. 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

45. 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

46. Family History in Parkinson's Disease: A National Cross-Sectional Study.

Author

Arienti F, Casazza G, Franco G, Lazzeri G, Monfrini E, Di Maio A, Erro R, Barone P, Tamma F, Caputo E, Volontè MA, Cacciaguerra L, Pilotto A, Padovani A, Comi C, Magistrelli L, Valzania F, Cavallieri F, Avanzino L, Marchese R, Sensi M, Carroli G, Eleopra R, Cilia R, Spagnolo F, Tessitore A, De Micco R, Ceravolo R, Palermo G, Malaguti MC, Lopiano L, Tocco P, Sorbera C, Tinazzi M, Ciammola A, Ottaviani D, Valente EM, Albanese A, Blandini F, Canesi M, Antonini A, Carecchio M, Fetoni V, Colosimo C, Volpe D, Tambasco N, Cossu G, Zappia M, and Di Fonzo A

Subjects
Humans, Cross-Sectional Studies, Male, Female, Aged, Middle Aged, Italy epidemiology, Age of Onset, Risk Factors, Genetic Predisposition to Disease, Prevalence, Parkinson Disease genetics, Parkinson Disease epidemiology
Abstract

Background: Family history of Parkinson's disease (PD) is a common finding in PD patients. However, a few studies have systematically examined this aspect., Objectives: We investigated the family history of PD patients, comparing demographic and clinical features between familial PD (fPD) and sporadic PD (sPD)., Methods: A cross-sectional study enrolling 2035 PD patients was conducted in 28 Italian centers. Clinical data and family history up to the third degree of kinship were collected., Results: Family history of PD was determined in 21.9% of patients. fPD patients had earlier age at onset than sporadic patients. No relevant differences in the prevalence of motor and nonmotor symptoms were detected. Family history of mood disorders resulted more prevalently in the fPD group., Conclusions: fPD was found to recur more frequently than previously reported. Family history collection beyond the core family is essential to discover disease clusters and identify novel risk factors for PD., (© 2024 The Author(s). Movement Disorders Clinical Practice published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)

Published
2024
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47. Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease.

Author

Marano M, Zizzo C, Malaguti MC, Bacchin R, Cavallieri F, De Micco R, Spagnolo F, Bentivoglio AR, Schirinzi T, Bovenzi R, Ramat S, Erro R, Sorrentino C, Sucapane P, Pilotto A, Lupini A, Magliozzi A, Di Vico I, Carecchio M, Bonato G, Cilia R, Colucci F, Tamma F, Caputo E, Mostile G, Arabia G, Modugno N, Zibetti M, Ceravolo MG, Tambasco N, Cossu G, Valzania F, Manganotti P, Di Lazzaro V, Zappia M, Fabbrini G, Tinazzi M, Tessitore A, Duro G, and Di Fonzo A

Subjects
Humans, Male, Female, Aged, Middle Aged, Mutation, Dried Blood Spot Testing, Adult, Aged, 80 and over, Glucosylceramidase genetics, Gaucher Disease genetics, Gaucher Disease blood, Parkinson Disease genetics, Parkinson Disease blood, Psychosine analogs & derivatives, Psychosine blood
Abstract

Introduction: Gaucher's disease (GD) is caused by biallelic mutations in the GBA1 gene, leading to reduced glucocerebrosidase (GCase) activity and substrate (glucosylceramide and glucosylsphingosine, GlcSph) accumulation. GBA1 variant carriers are at risk of Parkinson's disease (PD), but only those with biallelic mutations cross the threshold of GCase reduction, leading to substrate accumulation and GD. The link between GBA1 mutations, GD and PD is not fully understood. Here we aimed at reporting the results of a large PD population screening with dried blood spot tests for GD., Methods: We measured GCase activity and GlcSph levels in 1344 PD patients with dried blood spot tests, and performed GBA1 genetic sequencing., Results: While the GCase activity was reduced in GBA1-PD carriers compared to wild type PD, GlcSph was increased in GBA1-PD compared to GBA1-controls, regardless of the underlying type of GBA1 variant. 13.6 % and 0.4 % of PD patients had mono- or biallelic GBA1 mutations respectively. GCase deficiency, lipid accumulation and clinical manifestations of GD was detected in five PD patients with biallelic GBA1 mutations, of whom four had a risk combined with a GD causing variant., Conclusions: GlcSph appearing higher in PD may represent a reliable biomarker of the disease and deserves to be further investigated. This study highlights the importance of screening PD patients for possible underlying GD, which is a treatable condition that should not be missed. We diagnosed GD cases carrying a "risk" variant in one allele, which is an unprecedented finding deserving further investigation., Competing Interests: Declaration of competing interest The authors 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 © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Published
2024
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48. 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

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., Competing Interests: The 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 Vecchio, Gallicchio, Caporusso, Recchia, Didonna, Pezzuto, Pisani, Petruzzellis, Delmonte and Tamma.)

Published
2022
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50. The TANDEM investigation: efficacy and tolerability of levodopa-carbidopa intestinal gel in (LCIG) advanced Parkinson's disease patients.

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 FE, Solla P, Bentivoglio AR, Comi C, Minafra B, Riboldazzi G, Melchionda D, Martino T, and Lopiano L

Subjects
Activities of Daily Living, Antiparkinson Agents adverse effects, Drug Combinations, Female, Gels, Humans, Infant, Newborn, Levodopa adverse effects, Male, Quality of Life, Carbidopa adverse effects, Parkinson Disease drug therapy
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 ± 6.6 years and a diagnosis of PD since 13.6 ± 5.5 years, 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
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