The European Reference Network for Rare Neurological Diseases
While rare diseases (RDs) are by definition of low prevalence, the total number of patients suffering from an RD is high, and the majority of them have neurologic manifestations, involving central, peripheral nerve, and muscle. In 2017, 24 European Reference Networks (ERNs), each focusing on a speci...
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Frontiers Media S.A.
2021-01-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2020.616569/full |
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| author | Carola Reinhard Carola Reinhard Anne-Catherine Bachoud-Lévi Anne-Catherine Bachoud-Lévi Anne-Catherine Bachoud-Lévi Tobias Bäumer Tobias Bäumer Enrico Bertini Alicia Brunelle Alicia Brunelle Annemieke I. Buizer Antonio Federico Thomas Gasser Thomas Gasser Samuel Groeschel Sanja Hermanns Sanja Hermanns Thomas Klockgether Ingeborg Krägeloh-Mann G. Bernhard Landwehrmeyer Isabelle Leber Isabelle Leber Alfons Macaya Caterina Mariotti Wassilios G. Meissner Wassilios G. Meissner Maria Judit Molnar Jorik Nonnekes Juan Dario Ortigoza Escobar Belen Pérez Dueñas Lori Renna Linton Ludger Schöls Rebecca Schuele Rebecca Schuele Marina A. J. Tijssen Rik Vandenberghe Rik Vandenberghe Anna Volkmer Anna Volkmer Nicole I. Wolf Holm Graessner Holm Graessner |
| author_facet | Carola Reinhard Carola Reinhard Anne-Catherine Bachoud-Lévi Anne-Catherine Bachoud-Lévi Anne-Catherine Bachoud-Lévi Tobias Bäumer Tobias Bäumer Enrico Bertini Alicia Brunelle Alicia Brunelle Annemieke I. Buizer Antonio Federico Thomas Gasser Thomas Gasser Samuel Groeschel Sanja Hermanns Sanja Hermanns Thomas Klockgether Ingeborg Krägeloh-Mann G. Bernhard Landwehrmeyer Isabelle Leber Isabelle Leber Alfons Macaya Caterina Mariotti Wassilios G. Meissner Wassilios G. Meissner Maria Judit Molnar Jorik Nonnekes Juan Dario Ortigoza Escobar Belen Pérez Dueñas Lori Renna Linton Ludger Schöls Rebecca Schuele Rebecca Schuele Marina A. J. Tijssen Rik Vandenberghe Rik Vandenberghe Anna Volkmer Anna Volkmer Nicole I. Wolf Holm Graessner Holm Graessner |
| author_sort | Carola Reinhard |
| collection | DOAJ |
| description | While rare diseases (RDs) are by definition of low prevalence, the total number of patients suffering from an RD is high, and the majority of them have neurologic manifestations, involving central, peripheral nerve, and muscle. In 2017, 24 European Reference Networks (ERNs), each focusing on a specific group of rare or low-prevalence complex diseases, were formed to improve the care for patients with an RD. One major aim is to have “the knowledge travel instead of the patient,” which has been put into practice by the implementation of the Clinical Patient Management System (CPMS) that enables clinicians to perform pan-European virtual consultations. The European Reference Network for Rare Neurological Diseases (ERN-RND) provides an infrastructure for knowledge sharing and care coordination for patients affected by a rare neurological disease (RND) involving the most common central nervous system pathological conditions. It covers the following disease groups: (i) Cerebellar Ataxias and Hereditary Spastic Paraplegias; (ii) Huntington's disease and Other Choreas; (iii) Frontotemporal dementia; (iv) Dystonia, (non-epileptic) paroxysmal disorders, and Neurodegeneration with Brain Iron Accumulation; (v) Leukoencephalopathies; and (vi) Atypical Parkinsonian Syndromes. At the moment, it unites 32 expert centers and 10 affiliated partners in 21 European countries, as well as patient representatives, but will soon cover nearly all countries of the European Union as a result of the ongoing expansion process. Disease expert groups developed and consented on diagnostic flowcharts and disease scales to assess the different aspects of RNDs. ERN-RND has started to discuss diagnostically unclear patients in the CPMS, is one of four ERNs that serve as foundation of Solve-RD, and has established an RND training and education program. The network will facilitate trial readiness through the establishment of an ERN-RND registry with a minimal data of all patients seen at the ERN-RND centers, thus providing a unique overview of existing genotype-based cohorts. The overall aim of the ERNs is to improve access for patients with RDs to quality diagnosis, care, and treatment. Based on this objective, ERNs are monitored by the European Commission on a regular basis to provide transparency and reassurance to the RD community and the general public. |
| first_indexed | 2024-12-17T21:18:52Z |
| format | Article |
| id | doaj.art-d626e4ca4eb942849d4ce495989090a2 |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-17T21:18:52Z |
| publishDate | 2021-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-d626e4ca4eb942849d4ce495989090a22022-12-21T21:32:16ZengFrontiers Media S.A.Frontiers in Neurology1664-22952021-01-011110.3389/fneur.2020.616569616569The European Reference Network for Rare Neurological DiseasesCarola Reinhard0Carola Reinhard1Anne-Catherine Bachoud-Lévi2Anne-Catherine Bachoud-Lévi3Anne-Catherine Bachoud-Lévi4Tobias Bäumer5Tobias Bäumer6Enrico Bertini7Alicia Brunelle8Alicia Brunelle9Annemieke I. Buizer10Antonio Federico11Thomas Gasser12Thomas Gasser13Samuel Groeschel14Sanja Hermanns15Sanja Hermanns16Thomas Klockgether17Ingeborg Krägeloh-Mann18G. Bernhard Landwehrmeyer19Isabelle Leber20Isabelle Leber21Alfons Macaya22Caterina Mariotti23Wassilios G. Meissner24Wassilios G. Meissner25Maria Judit Molnar26Jorik Nonnekes27Juan Dario Ortigoza Escobar28Belen Pérez Dueñas29Lori Renna Linton30Ludger Schöls31Rebecca Schuele32Rebecca Schuele33Marina A. J. Tijssen34Rik Vandenberghe35Rik Vandenberghe36Anna Volkmer37Anna Volkmer38Nicole I. Wolf39Holm Graessner40Holm Graessner41Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanyCentre for Rare Diseases, University Hospital Tübingen, Tübingen, GermanyAssistance Publique-Hôpitaux de Paris, National Reference Center for Huntington's Disease, Neurology Department, Henri Mondor-Albert Chenevier Hospital, Créteil, FranceDépartement d'Etudes Cognitives, École normale supérieure, PSL University, Paris, FranceInserm U955, Institut Mondor de Recherche Biomédicale, Equipe E01 NeuroPsychologie Interventionnelle, Créteil, FranceInstitute of Systems Motor Science, University of Lübeck, Lübeck, GermanyCentre for Rare Diseases, University of Lübeck, Lübeck, GermanyUnit of Neuromuscular and Neurodegenerative Disorders and Genetics and Rare Diseases Research Division, Bambino Gesù Children's Research Hospital, Instituto de Ricovero e Cura a Carattere Scientifico, Rome, ItalyInstitute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanyCentre for Rare Diseases, University Hospital Tübingen, Tübingen, GermanyDepartment of Rehabilitation Medicine, Amsterdam Movement Sciences and Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, Netherlands0Department of Medicine, Neurology, and Neurosciences, Medical School, University of Siena, Siena, Italy1Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany2German Center for Neurodegenerative Diseases, Tübingen, Germany3Department of Paediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, GermanyInstitute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanyCentre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany4Department of Neurology, University Hospital Bonn, Bonn, Germany3Department of Paediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany5University of Ulm, Department of Neurology, Ulm, Germany6Sorbonne Universités, Paris Brain Institute – Institut du Cerveau – ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France7Reference Centre for Rare or Early Dementias, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France8Pediatric Neurology Department, Vall d'Hebron Research Institute and Neuroscience Institute, Autonomous University Barcelona, Barcelona, Spain9Unit of Medical Genetics and Neurogenetics, Fondazione Instituto de Ricovero e Cura a Carattere Scientifico Istituto Neurologico Carlo Besta, Milan, Italy0CRMR AMS, Service de Neurologie des Maladies Neurodégénératives, CHU Bordeaux, France and Univ. Bordeaux, CNRS, IMN, UMR 5293, Bordeaux, France1Department of Medicine, University of Otago, New Zealand Brain Research Institute, Christchurch, New Zealand2Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary3Department of Rehabilitation, Centre of Expertise for Parkinson and Movement Disorders, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, Netherlands4Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, and Centro de Investigación Biomédica en Red de Enfermedades Raras Instituto de Salud Carlos III (CIBERER-ISCIII), Barcelona, Spain5Department of Pediatric Neurology, Hospital Vall d'Hebrón, Pediatric Neurology Research Group at Vall d'Hebrón Research Institute, Universitat Autonoma de Barcelona, Barcelona, Spain6EuroHSP, Plateforme Maladies Rares, Paris, France7Department of Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany2German Center for Neurodegenerative Diseases, Tübingen, Germany8Department of Neurodegenerative Diseases, Center of Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany9Expertise Center Movement Disorders Groningen, University Medical Center Groningen, University of Groningen, Groningen, Netherlands0Neurology Service, University Hospitals Leuven, Leuven, Belgium1Laboratory for Cognitive Neurology, Department of Neurosciences, Katholieke Universiteit Leuven, Leuven, Belgium2Division of Psychology and Language Sciences, University College London, London, United Kingdom3Department of Therapy Services, University College London Hospitals National Health System Foundation Trust National Hospital for Neurology and Neurosurgery, London, United Kingdom4Department of Child Neurology, Amsterdam Leukodystrophy Centre, Emma Children's Hospital, Amsterdam University Medical Centres, Vrije Universiteit, and Amsterdam Neuroscience, Amsterdam, NetherlandsInstitute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanyCentre for Rare Diseases, University Hospital Tübingen, Tübingen, GermanyWhile rare diseases (RDs) are by definition of low prevalence, the total number of patients suffering from an RD is high, and the majority of them have neurologic manifestations, involving central, peripheral nerve, and muscle. In 2017, 24 European Reference Networks (ERNs), each focusing on a specific group of rare or low-prevalence complex diseases, were formed to improve the care for patients with an RD. One major aim is to have “the knowledge travel instead of the patient,” which has been put into practice by the implementation of the Clinical Patient Management System (CPMS) that enables clinicians to perform pan-European virtual consultations. The European Reference Network for Rare Neurological Diseases (ERN-RND) provides an infrastructure for knowledge sharing and care coordination for patients affected by a rare neurological disease (RND) involving the most common central nervous system pathological conditions. It covers the following disease groups: (i) Cerebellar Ataxias and Hereditary Spastic Paraplegias; (ii) Huntington's disease and Other Choreas; (iii) Frontotemporal dementia; (iv) Dystonia, (non-epileptic) paroxysmal disorders, and Neurodegeneration with Brain Iron Accumulation; (v) Leukoencephalopathies; and (vi) Atypical Parkinsonian Syndromes. At the moment, it unites 32 expert centers and 10 affiliated partners in 21 European countries, as well as patient representatives, but will soon cover nearly all countries of the European Union as a result of the ongoing expansion process. Disease expert groups developed and consented on diagnostic flowcharts and disease scales to assess the different aspects of RNDs. ERN-RND has started to discuss diagnostically unclear patients in the CPMS, is one of four ERNs that serve as foundation of Solve-RD, and has established an RND training and education program. The network will facilitate trial readiness through the establishment of an ERN-RND registry with a minimal data of all patients seen at the ERN-RND centers, thus providing a unique overview of existing genotype-based cohorts. The overall aim of the ERNs is to improve access for patients with RDs to quality diagnosis, care, and treatment. Based on this objective, ERNs are monitored by the European Commission on a regular basis to provide transparency and reassurance to the RD community and the general public.https://www.frontiersin.org/articles/10.3389/fneur.2020.616569/fullrare neurological diseasesstandards of caretraining and educationvirtual healthcareEuropean reference network |
| spellingShingle | Carola Reinhard Carola Reinhard Anne-Catherine Bachoud-Lévi Anne-Catherine Bachoud-Lévi Anne-Catherine Bachoud-Lévi Tobias Bäumer Tobias Bäumer Enrico Bertini Alicia Brunelle Alicia Brunelle Annemieke I. Buizer Antonio Federico Thomas Gasser Thomas Gasser Samuel Groeschel Sanja Hermanns Sanja Hermanns Thomas Klockgether Ingeborg Krägeloh-Mann G. Bernhard Landwehrmeyer Isabelle Leber Isabelle Leber Alfons Macaya Caterina Mariotti Wassilios G. Meissner Wassilios G. Meissner Maria Judit Molnar Jorik Nonnekes Juan Dario Ortigoza Escobar Belen Pérez Dueñas Lori Renna Linton Ludger Schöls Rebecca Schuele Rebecca Schuele Marina A. J. Tijssen Rik Vandenberghe Rik Vandenberghe Anna Volkmer Anna Volkmer Nicole I. Wolf Holm Graessner Holm Graessner The European Reference Network for Rare Neurological Diseases Frontiers in Neurology rare neurological diseases standards of care training and education virtual healthcare European reference network |
| title | The European Reference Network for Rare Neurological Diseases |
| title_full | The European Reference Network for Rare Neurological Diseases |
| title_fullStr | The European Reference Network for Rare Neurological Diseases |
| title_full_unstemmed | The European Reference Network for Rare Neurological Diseases |
| title_short | The European Reference Network for Rare Neurological Diseases |
| title_sort | european reference network for rare neurological diseases |
| topic | rare neurological diseases standards of care training and education virtual healthcare European reference network |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2020.616569/full |
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