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281 results on '"Contarino, Maria Fiorella"'

1. Prospective, Multicenter, International Registry of Deep Brain Stimulation for Dystonia: Sub-analysis of Cervical Dystonia Patients (P1-3.018)

Author

Albanese, Alberto, primary, Schnitzler, Alfons, additional, Kuehn, Andrea, additional, Arkadir, David, additional, Ledingham, David, additional, Pedrosa, David, additional, Newman, Edward, additional, Regidor, Ignacio, additional, Volkmann, Jens, additional, Rudas, Marcin, additional, Contarino, Maria Fiorella, additional, Sensi, Mariachiara, additional, Barbe, Michael, additional, Poetter-Nerger, Monika, additional, Kovacs, Norbert, additional, Lehrke, Ralph, additional, Huh, Ryoong, additional, Paschen, Steffen, additional, Mandat, Tomasz, additional, Tufo, Tommaso, additional, Visser-Vandewalle, Veerle, additional, Coenen, Volker, additional, Tai, Yen, additional, Chen, Lilly, additional, Goldberg, Edward, additional, and Krauss, Joachim, additional

Published
2024
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2. Dystonia

Author

Contarino, Maria Fiorella, Krauss, Joachim K., Temel, Yasin, editor, Leentjens, Albert F.G., editor, de Bie, Rob M.A., editor, Chabardes, Stephan, editor, and Fasano, Alfonso, editor

Published
2020
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3. Perspectives of Implementation of Closed-Loop Deep Brain Stimulation: From Neurological to Psychiatric Disorders

Author

German Research Foundation, Abbott Fund, Martín-Rodríguez, Juan Francisco [0000-0003-1392-8775], Adarmes Gómez, A. D. [0000-0002-1337-9289], Mir, Pablo [0000-0003-1656-302X], Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72], Groppa, Sergiu, González-Escamilla, Gabriel, Tinkhauser, Gerd, Baqapuri, Halim Ibrahim, Sajonz, Bastian, Wiest, Christoph, Pereira, Joana B., Herz, Damian M., Dold, Matthias R., Bange, Manuel, Ciolac, Dumitru, Almeida, Viviane, Neuber, John, Mirzac, Daniela, Martín-Rodríguez, Juan Francisco, Dresel, Christian, Muthuraman, Muthuraman, Adarmes Gómez, A. D., Navas, Marta, Temiz, Gizem, Gunduz, Aysegul, Rotaru, Lilia, Winter, Yaroslav, Schuurman, Rick, Contarino, Maria Fiorella, Glaser, Martin, Tangermann, Michael, Leentjens, Albert F. G., Mir, Pablo, Torres Diaz, Cristina V., Karachi, Carine, Linden, David E. J., Tan, Huiling, Coenen, Volker A., EuroDBS, German Research Foundation, Abbott Fund, Martín-Rodríguez, Juan Francisco [0000-0003-1392-8775], Adarmes Gómez, A. D. [0000-0002-1337-9289], Mir, Pablo [0000-0003-1656-302X], Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72], Groppa, Sergiu, González-Escamilla, Gabriel, Tinkhauser, Gerd, Baqapuri, Halim Ibrahim, Sajonz, Bastian, Wiest, Christoph, Pereira, Joana B., Herz, Damian M., Dold, Matthias R., Bange, Manuel, Ciolac, Dumitru, Almeida, Viviane, Neuber, John, Mirzac, Daniela, Martín-Rodríguez, Juan Francisco, Dresel, Christian, Muthuraman, Muthuraman, Adarmes Gómez, A. D., Navas, Marta, Temiz, Gizem, Gunduz, Aysegul, Rotaru, Lilia, Winter, Yaroslav, Schuurman, Rick, Contarino, Maria Fiorella, Glaser, Martin, Tangermann, Michael, Leentjens, Albert F. G., Mir, Pablo, Torres Diaz, Cristina V., Karachi, Carine, Linden, David E. J., Tan, Huiling, Coenen, Volker A., and EuroDBS

Abstract

Background: Deep brain stimulation (DBS) is a highly efficient, evidence-based therapy to alleviate symptoms and improve quality of life in movement disorders such as Parkinson’s disease, essential tremor, and dystonia, which is also being applied in several psychiatric disorders, such as obsessive-compulsive disorder and depression, when they are otherwise resistant to therapy. Summary: At present, DBS is clinically applied in the so-called open-loop approach, with fixed stimulation parameters, irrespective of the patients’ clinical state(s). This approach ignores the brain states or feedback from the central nervous system or peripheral recordings, thus potentially limiting its efficacy and inducing side effects by stimulation of the targeted networks below or above the therapeutic level. Key Messages: The currently emerging closed-loop (CL) approaches are designed to adapt stimulation parameters to the electrophysiological surrogates of disease symptoms and states. CL-DBS paves the way for adaptive personalized DBS protocols. This review elaborates on the perspectives of the CL technology and discusses its opportunities as well as its potential pitfalls for both clinical and research use in neuropsychiatric disorders.

Published
2024

8. Targeting of the Subthalamic Nucleus for Deep Brain Stimulation: A Survey Among Parkinson Disease Specialists

Author

Hamel, Wolfgang, Köppen, Johannes A., Alesch, François, Antonini, Angelo, Barcia, Juan A., Bergman, Hagai, Chabardes, Stephan, Contarino, Maria Fiorella, Cornu, Philippe, Demmel, Walter, Deuschl, Günther, Fasano, Alfonso, Kühn, Andrea A., Limousin, Patricia, McIntyre, Cameron C., Mehdorn, H. Maximilian, Pilleri, Manuela, Pollak, Pierre, Rodríguez-Oroz, Maria C., Rumià, Jordi, Samuel, Michael, Timmermann, Lars, Valldeoriola, Francesc, Vesper, Jan, Visser-Vandewalle, Veerle, Volkmann, Jens, and Lozano, Andres M.

Published
2017
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9. Predicting Motor Outcome and Quality of Life After Subthalamic Deep Brain Stimulation for Parkinson’s Disease: The Role of Standard Screening Measures and Wearable-Data

Author

Geraedts, Victor J., primary, van Vugt, Jeroen P.P., additional, Marinus, Johan, additional, Kuiper, Roy, additional, Middelkoop, Huub A.M., additional, Zutt, Rodi, additional, van der Gaag, Niels A., additional, Hoffmann, Carel F.E., additional, Dorresteijn, Lucille D.A., additional, van Hilten, Jacobus J., additional, and Contarino, Maria Fiorella, additional

Published
2023
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10. Functional Movement Disorders and Deep Brain Stimulation: A Multi-Center Study

Author

Marsili, Luca, Keeling, Elizabeth G., Maciel, Ricardo, Contarino, Maria Fiorella, Zutt, Rodi, Okun, Michael S., Almeida, Leonardo, Deeb, Wissam, Kern, Drew, Macías García, Daniel, Carrillo, Fátima, Mir, Pablo, Merola, Aristide, Espay, Alberto J., Fasano, Alfonso, Marsili, Luca, Keeling, Elizabeth G., Maciel, Ricardo, Contarino, Maria Fiorella, Zutt, Rodi, Okun, Michael S., Almeida, Leonardo, Deeb, Wissam, Kern, Drew, Macías García, Daniel, Carrillo, Fátima, Mir, Pablo, Merola, Aristide, Espay, Alberto J., and Fasano, Alfonso

Abstract

[Background] Functional movement disorders (FMD) are a commonly under-recognized diagnosis in patients with underlying neurodegenerative diseases. FMD have been observed in patients undergoing deep brain stimulation (DBS) for Parkinson's disease (PD) and other movement disorders. The prevalence of coexisting FMD among movement disorder-related DBS patients is unknown, and it may occur more often than previously recognized., [Methods] We retrospectively assessed the relative prevalence and clinical characteristics of FMD occurring post-DBS, in PD and dystonia patients (FMD+, n = 29). We compared this cohort with age at surgery-, sex-, and diagnosis-matched subjects without FMD post-DBS (FMD−, n = 29)., [Results] Both the FMD prevalence (0.2%–2.1%) and the number of cases/DBS procedures/year varied across centers (0.15–3.65). A total of nine of 29 FMD+ cases reported worse outcomes following DBS. Although FMD+ and FMD− manifested similar features, FMD+ showed higher psychiatric comorbidity., [Conclusions] DBS may be complicated by the development of FMD in a subset of patients, particularly those with pre-morbid psychiatric conditions.

Published
2023

11. Idiopathic delayed-onset edema surrounding deep brain stimulation leads: Insights from a case series and systematic literature review

Author

de Cuba, Catherine M.K.E., Albanese, Alberto, Antonini, Angelo, Cossu, Giovanni, Deuschl, Günther, Eleopra, Roberto, Galati, Alejandro, Hoffmann, Carel F.E., Knudsen, Karina, Landi, Andrea, Lanotte, Michele Maria R., Marcante, Andrea, Mosch, Arne, Pilleri, Manuela, Reich, Martin M., Ricchi, Valeria, Rinaldo, Sara, Romito, Luigi M., Saba, Felipe S., Sacristan, Horacio E., Schuurman, P.Richard, Trezza, Andrea, van den Munckhof, Pepijn, Volkmann, Jens, Zibetti, Maurizio, and Contarino, Maria Fiorella

Published
2016
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13. A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism

Author

Koens, Lisette H., primary, Klamer, Marrit R., additional, Sival, Deborah A., additional, Balint, Bettina, additional, Bhatia, Kailash P., additional, Contarino, Maria Fiorella, additional, van Egmond, Martje E., additional, Erro, Roberto, additional, Friedman, Jennifer, additional, Fung, Victor S.C., additional, Ganos, Christos, additional, Kurian, Manju A., additional, Lang, Anthony E., additional, McGovern, Eavan M., additional, Roze, Emmanuel, additional, de Koning, Tom J., additional, and Tijssen, Marina A.J., additional

Published
2023
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15. Functional Movement Disorders and Deep Brain Stimulation: A Multi‐Center Study

Author

Marsili, Luca, primary, Keeling, Elizabeth G., additional, Maciel, Ricardo, additional, Contarino, Maria Fiorella, additional, Zutt, Rodi, additional, Okun, Michael S., additional, Almeida, Leonardo, additional, Deeb, Wissam, additional, Kern, Drew, additional, Macias‐Garcia, Daniel, additional, Carrillo, Fatima, additional, Mir, Pablo, additional, Merola, Aristide, additional, Espay, Alberto J., additional, and Fasano, Alfonso, additional

Published
2022
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16. Targeting the Gut-Brain Axis with Fecal Microbiota Transplantation: Considerations on a Potential Novel Treatment for Parkinson's Disease.

Author

Contarino, Maria Fiorella, van Hilten, Jacobus J., and Kuijper, Ed J.

Subjects
*PARKINSON'S disease, *FECAL microbiota transplantation, *MOVEMENT disorders, *ASPIRATION pneumonia, *PATHOLOGY
Abstract

This article explores the potential use of fecal microbiota transplantation (FMT) as a treatment for Parkinson's disease (PD) by targeting the gut-brain axis. It discusses the role of the gut in PD and the differences in gut microbiota composition between PD patients and healthy individuals. FMT has the potential to modify the gut microbiota and potentially reduce inflammation and PD symptoms, but more research is needed to determine its efficacy and safety. The article emphasizes the need for caution and further testing before considering microbiota-modifying strategies for PD. Additionally, the article titled "Movement Disorders Clinical Practice 2023" provides a comprehensive overview of movement disorders, including PD, and is a valuable resource for those researching this topic. [Extracted from the article]

Published
2023
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17. Assessment of Parkinson's Disease Severity from Videos Using Deep Architectures

Author

Yin, Zhao (author), Geraedts, Victor Jacobus (author), Wang, Z. (author), Contarino, Maria Fiorella (author), Dibeklioglu, H. (author), van Gemert, J.C. (author), Yin, Zhao (author), Geraedts, Victor Jacobus (author), Wang, Z. (author), Contarino, Maria Fiorella (author), Dibeklioglu, H. (author), and van Gemert, J.C. (author)

Abstract

Parkinson's disease (PD) diagnosis is based on clinical criteria, i.e., bradykinesia, rest tremor, rigidity, etc. Assessment of the severity of PD symptoms with clinical rating scales, however, is subject to inter-rater variability. In this paper, we propose a deep learning based automatic PD diagnosis method using videos to assist the diagnosis in clinical practices. We deploy a 3D Convolutional Neural Network (CNN) as the baseline approach for the PD severity classification and show the effectiveness. Due to the lack of data in clinical field, we explore the possibility of transfer learning from non-medical dataset and show that PD severity classification can benefit from it. To bridge the domain discrepancy between medical and non-medical datasets, we let the network focus more on the subtle temporal visual cues, i.e., the frequency of tremors, by designing a Temporal Self-Attention (TSA) mechanism. Seven tasks from the Movement Disorders Society - Unified PD rating scale (MDS-UPDRS) part III are investigated, which reveal the symptoms of bradykinesia and postural tremors. Furthermore, we propose a multi-domain learning method to predict the patient-level PD severity through task-assembling. We show the effectiveness of TSA and task-assembling method on our PD video dataset empirically. We achieve the best MCC of 0.55 on binary task-level and 0.39 on three-class patient-level classification., Pattern Recognition and Bioinformatics

Published
2022
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27. The sensitivity of ECG contamination to surgical implantation site in brain computer interfaces

Author

Neumann, Wolf-Julian, primary, Memarian Sorkhabi, Majid, additional, Benjaber, Moaad, additional, Feldmann, Lucia K., additional, Saryyeva, Assel, additional, Krauss, Joachim K., additional, Contarino, Maria Fiorella, additional, Sieger, Tomas, additional, Jech, Robert, additional, Tinkhauser, Gerd, additional, Pollo, Claudio, additional, Palmisano, Chiara, additional, Isaias, Ioannis U., additional, Cummins, Daniel D., additional, Little, Simon J., additional, Starr, Philip A., additional, Kokkinos, Vasileios, additional, Gerd-Helge, Schneider, additional, Herrington, Todd, additional, Brown, Peter, additional, Richardson, R. Mark, additional, Kühn, Andrea A., additional, and Denison, Timothy, additional

Published
2021
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28. Preoperative Electroencephalography‐Based Machine Learning Predicts Cognitive Deterioration After Subthalamic Deep Brain Stimulation

Author

Geraedts, Victor J., primary, Koch, Milan, additional, Kuiper, Roy, additional, Kefalas, Marios, additional, Bäck, Thomas H.W., additional, van Hilten, Jacobus J., additional, Wang, Hao, additional, Middelkoop, Huub A.M., additional, van der Gaag, Niels A., additional, Contarino, Maria Fiorella, additional, and Tannemaat, Martijn R., additional

Published
2021
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29. The sensitivity of ECG contamination to surgical implantation site in adaptive neurostimulation

Author

Neumann, Wolf-Julian, primary, Sorkhabi, Majid Memarian, additional, Benjaber, Moaad, additional, Feldmann, Lucia K., additional, Saryyeva, Assel, additional, Krauss, Joachim K., additional, Contarino, Maria Fiorella, additional, Sieger, Tomas, additional, Jech, Robert, additional, Tinkhauser, Gerd, additional, Pollo, Claudio, additional, Palmisano, Chiara, additional, Isaias, Ioannis U., additional, Cummins, Daniel, additional, Little, Simon J., additional, Starr, Philip A., additional, Kokkinos, Vasileios, additional, Gerd-Helge, Schneider, additional, Herrington, Todd, additional, Brown, Peter, additional, Richardson, R. Mark, additional, Kühn, Andrea A., additional, and Denison, Timothy, additional

Published
2021
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35. Lack of Accredited Clinical Training in Movement Disorders in Europe, Egypt, and Tunisia

Author

Tamás, Gertrúd, primary, Fabbri, Margherita, additional, Falup-Pecurariu, Cristian, additional, Teodoro, Tiago, additional, Kurtis, Mónica M., additional, Aliyev, Rahim, additional, Bonello, Michael, additional, Brozova, Hana, additional, Coelho, Miguel Soares, additional, Contarino, Maria Fiorella, additional, Corvol, Jean-Christophe, additional, Dietrichs, Espen, additional, Ben Djebara, Mouna, additional, Elmgreen, Søren Bruno, additional, Groppa, Sergiu, additional, Kadastik-Eerme, Liis, additional, Khatiashvili, Irine, additional, Kostić, Vladimir, additional, Krismer, Florian, additional, Hassan Mansour, Alia, additional, Odin, Per, additional, Gavriliuc, Olga, additional, Olszewska, Diana Angelika, additional, Relja, Maja, additional, Scheperjans, Filip, additional, Skorvanek, Matej, additional, Smilowska, Katarzyna, additional, Taba, Pille, additional, Tavadyan, Zaruhi, additional, Valante, Ramona, additional, Vujovic, Balsa, additional, Waldvogel, Daniel, additional, Yalcin-Cakmakli, Gul, additional, Chitnis, Shilpa, additional, and Ferreira, Joaquim J., additional

Published
2020
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36. Khodakarami, H., et al., Prediction of the Levodopa Challenge Test in Parkinson’s Disease Using Data from a Wrist-Worn Sensor. Sensors 2019, 19, 5153

Author

Khodakarami, Hamid, primary, Ricciardi, Lucia, additional, Contarino, Maria Fiorella, additional, Pahwa, Rajesh, additional, Lyons, Kelly E., additional, Geraedts, Victor J., additional, Morgante, Francesca, additional, Leake, Alison, additional, Paviour, Dominic, additional, De Angelis, Andrea, additional, and Horne, Malcolm, additional

Published
2020
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37. Fecal Microbiota Transplantation in Neurological Disorders

Author

Vendrik, Karuna E. W., primary, Ooijevaar, Rogier E., additional, de Jong, Pieter R. C., additional, Laman, Jon D., additional, van Oosten, Bob W., additional, van Hilten, Jacobus J., additional, Ducarmon, Quinten R., additional, Keller, Josbert J., additional, Kuijper, Eduard J., additional, and Contarino, Maria Fiorella, additional

Published
2020
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38. Differential response to pallidal deep brain stimulation among monogenic dystonias: systematic review and meta-analysis

Author

Artusi, Carlo Alberto, primary, Dwivedi, Alok, additional, Romagnolo, Alberto, additional, Bortolani, Sara, additional, Marsili, Luca, additional, Imbalzano, Gabriele, additional, Sturchio, Andrea, additional, Keeling, Elizabeth G, additional, Zibetti, Maurizio, additional, Contarino, Maria Fiorella, additional, Fasano, Alfonso, additional, Tagliati, Michele, additional, Okun, M S, additional, Espay, Alberto J, additional, Lopiano, Leonardo, additional, and Merola, Aristide, additional

Published
2020
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39. Relative Contribution of Magnetic Resonance Imaging, Microelectrode Recordings, and Awake Test Stimulation in Final Lead Placement during Deep Brain Stimulation Surgery of the Subthalamic Nucleus in Parkinson’s Disease

Author

Frequin, Henrieke L., primary, Bot, Maarten, additional, Dilai, José, additional, Scholten, Marije N., additional, Postma, Miranda, additional, Bour, Lodewijk J., additional, Contarino, Maria Fiorella, additional, de Bie, Rob M.A., additional, Schuurman, P. Rick, additional, and van den Munckhof, Pepijn, additional

Published
2020
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41. Long-term effects of pallidal or subthalamic deep brain stimulation on quality of life in Parkinsonʼs disease

Author

Volkmann, Jens, Albanese, Alberto, Kulisevsky, Jaime, Tornqvist, Aana-Lena, Houeto, Jean-Luc, Pidoux, Bernard, Bonnet, Anne-Marie, Mendes, Alexandre, Benabid, Alim-Louis, Fraix, Valerie, Van Blercom, Nadege, Xie, Jing, Obeso, José, Rodriguez-Oroz, Maria Cruz, Guridi, Jurge, Schnitzler, Alfons, Timmermann, Lars, Gironell, Alexandre A., Molet, Juan, Pascual-Sedano, Benta, Rehncrona, Stig, Moro, Elena, Lang, Anthony C., Lozano, Andres M., Bentivoglio, Anna Rita, Scerrati, Massimo, Contarino, Maria Fiorella, Romito, Luigi, Janssens, Marc, and Agid, Yves

Published
2009
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44. Association of Subthalamic Deep Brain Stimulation With Motor, Functional, and Pharmacologic Outcomes in Patients With Monogenic Parkinson Disease

Author

Artusi, Carlo Alberto, Dwivedi, Alok K., Romagnolo, Alberto, Pal, Gian, Kauffman, Marcelo, Mata, Ignacio, Patel, Dhiren, Vizcarra, Joaquin A., Duker, Andrew, Marsili, Luca, Cheeran, Binith, Woo, Daniel, Contarino, Maria Fiorella, Verhagen, Leonard, Lopiano, Leonardo, Espay, Alberto J., Fasano, Alfonso, and Merola, Aristide

Subjects
Adult, Online Only, Young Adult, Neurology, Adolescent, Subthalamic Nucleus, Research, Deep Brain Stimulation, Humans, Parkinson Disease, Middle Aged, nervous system diseases, Original Investigation
Abstract

Key Points Question Does the outcome of subthalamic deep brain stimulation vary among common monogenic forms of Parkinson disease? Findings In this systematic review and meta-analysis involving 518 patients from 17 published studies, treatment with subthalamic deep brain stimulation for patients with Parkinson disease with LRRK2, GBA, or PRKN gene mutation yielded similar motor outcomes but different changes in dopaminergic doses, activities of daily living, motor complications, and cognitive functions. Meaning Genetic screening for LRRK2, GBA, and PRKN mutations in patients with Parkinson disease who are candidates for subthalamic deep brain stimulation may serve to inform outcomes., Importance Comparative outcomes among different monogenic forms of Parkinson disease after subthalamic nucleus deep brain stimulation (STN DBS) remain unclear. Objective To compare clinical outcomes in patients with the most common monogenic forms of Parkinson disease treated with STN DBS. Design, Setting, and Participants Systematic review and meta-analysis in which a PubMed search of interventional and noninterventional studies of Parkinson disease with LRRK2, GBA, or PRKN gene mutations published between January 1, 1990, and May 1, 2018, was conducted. Among the inclusion criteria were articles that reported the Motor subscale of the Unified Parkinson’s Disease Rating Scale Part III (UPDRS-III) before and after STN DBS treatment, that involved human participants, and that were published in the English language. Studies that used aggregated data from patients with different genetic mutations were excluded, and so were studies with assumed but not confirmed genetic data or incomplete follow-up data. Main Outcomes and Measures Changes in UPDRS-III scores and levodopa equivalent daily dose (LEDD) were analyzed for each monogenic form of Parkinson disease. Additional end points included activities of daily living (UPDRS-II), motor complications (UPDRS-IV), and cognitive function. Results Of the 611 eligible studies, 17 (2.8%) met the full inclusion criteria; these 17 studies consisted of 8 cohort studies (47.1%), 3 case series (17.6%), and 6 case reports (35.3%), and they involved a total of 518 patients. The UPDRS-III score improved by 46% in LRRK2 (mean change, 23.0 points; 95% CI, 15.2-30.8; P, This systematic review and meta-analysis examines research articles indexed in PubMed on the genetic mutations in Parkinson disease and their response to subthalamic nucleus deep brain stimulation treatment.

Published
2019

46. Dystonia Management: What to Expect From the Future? The Perspectives of Patients and Clinicians Within DystoniaNet Europe.

Author

Smit, Marenka, Albanese, Alberto, Benson, Monika, Edwards, Mark J., Graessner, Holm, Hutchinson, Michael, Jech, Robert, Krauss, Joachim K., Morgante, Francesca, Pérez Dueñas, Belen, Reilly, Richard B., Tinazzi, Michele, Contarino, Maria Fiorella, and Tijssen, Marina A. J.

Subjects
MEDICAL personnel, DYSTONIA, MEDICAL research, QUALITY of life, EUROPEAN cooperation
Abstract

Improved care for people with dystonia presents a number of challenges. Major gaps in knowledge exist with regard to how to optimize the diagnostic process, how to leverage discoveries in pathophysiology into biomarkers, and how to develop an evidence base for current and novel treatments. These challenges are made greater by the realization of the wide spectrum of symptoms and difficulties faced by people with dystonia, which go well-beyond motor symptoms. A network of clinicians, scientists, and patients could provide resources to facilitate information exchange at different levels, share mutual experiences, and support each other's innovative projects. In the past, collaborative initiatives have been launched, including the American Dystonia Coalition , the European Cooperation in Science and Technology (COST— which however only existed for a limited time), and the Dutch DystonieNet project. The European Reference Network on Rare Neurological Diseases includes dystonia among other rare conditions affecting the central nervous system in a dedicated stream. Currently, we aim to broaden the scope of these initiatives to a comprehensive European level by further expanding the DystoniaNet network, in close collaboration with the ERN-RND. In line with the ERN-RND, the mission of DystoniaNet Europe is to improve care and quality of life for people with dystonia by, among other endeavors, facilitating access to specialized care, overcoming the disparity in education of medical professionals, and serving as a solid platform to foster international clinical and research collaborations. In this review, both professionals within the dystonia field and patients and caregivers representing Dystonia Europe highlight important unsolved issues and promising new strategies and the role that a European network can play in activating them. [ABSTRACT FROM AUTHOR]

Published
2021
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47. Botulinum neurotoxin treatment in jerky and tremulous functional movement disorders: a double-blind, randomised placebo-controlled trial with an open-label extension

Author

Dreissen, Yasmine Emma Maria, primary, Dijk, Joke M, additional, Gelauff, Jeannette M, additional, Zoons, Evelien, additional, van Poppelen, Daniël, additional, Contarino, Maria Fiorella, additional, Zutt, Rodi, additional, Post, Bart, additional, Munts, Alexander G, additional, Speelman, Johannes D, additional, Cath, Danielle C, additional, de Haan, Rob J, additional, Koelman, Johannes HTM, additional, and Tijssen, Marina A J, additional

Published
2019
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49. Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity

Author

Egmond, Martje E., primary, Contarino, Maria Fiorella, additional, Lugtenberg, Coen H.A., additional, Peall, Kathryn J., additional, Brouwer, Oebele F., additional, Fung, Victor S.C., additional, Roze, Emmanuel, additional, Stewart, Roy E., additional, Willemsen, Michel A., additional, Wolf, Nicole I., additional, Koning, Tom J., additional, and Tijssen, Marina A., additional

Published
2019
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50. A post hoc study on gene panel analysis for the diagnosis of dystonia

Author

van Egmond, Martje E., Lugtenberg, Coen H. A., Brouwer, Oebele F., Contarino, Maria Fiorella, Fung, Victor S. C., Heiner-Fokkema, M. Rebecca, van Hilten, Jacobus J., van der Hout, Annemarie H., Peall, Kathryn J., Sinke, Richard J., Roze, Emmanuel, Verschuuren-Bemelmans, Corien C., Willemsen, Michel A., Wolf, Nicole I., Tijssen, Marina A., de Koning, Tom J., Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Center for Liver, Digestive and Metabolic Diseases (CLDM), and Movement Disorder (MD)

Subjects
gene panel analysis, diagnostic yield, DISEASES, cost, UPDATE, next-generation sequencing, dystonia, MUTATION, MOVEMENT-DISORDERS, GENERATION
Abstract

Background: Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next-generation sequencing techniques such as gene panel analysis can be effective in diagnosing heterogeneous conditions. The objective of this study was to investigate whether dystonia patients with a suspected genetic cause could benefit from the use of gene panel analysis.\ud \ud Methods: In this post hoc study, we describe gene panel analysis results of 61 dystonia patients (mean age, 31 years; 72% young onset) in our tertiary referral center. The panel covered 94 dystonia-associated genes. As comparison with a historic cohort was not possible because of the rapidly growing list of dystonia genes, we compared the diagnostic workup with and without gene panel analysis in the same patients. The workup without gene panel analysis (control group) included theoretical diagnostic strategies formulated by independent experts in the field, based on detailed case descriptions. The primary outcome measure was diagnostic yield; secondary measures were cost and duration of diagnostic workup.\ud \ud Results: Workup with gene panel analysis led to a confirmed molecular diagnosis in 14.8%, versus 7.4% in the control group (P = 0.096). In the control group, on average 3 genes/case were requested. The mean costs were lower in the gene panel analysis group (€1822/case) than in the controls (€2660/case). The duration of the workup was considerably shorter with gene panel analysis (28 vs 102 days).\ud \ud Conclusions: Gene panel analysis facilitates molecular diagnosis in complex cases of dystonia, with a good diagnostic yield (14.8%), a quicker diagnostic workup, and lower costs, representing a major improvement for patients and their families. © 2016 International Parkinson and Movement Disorder Society

Published
2017

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