The European Reference Network for Rare Neurological Diseases
Reinhard, Carola (University Hospital of Tübingen (Alemanya))
Bachoud-Lévi, Anne-Catherine (Henri Mondor-Albert Chenevier Hospital)
Bäumer, Tobias (University of Lübeck)
Bertini, Enrico (Bambino Gesù Children's Hospital)
Brunelle, Alicia (University Hospital of Tübingen (Alemanya))
Buizer, Annemieke I. (Amsterdam Movement Sciences and Emma Children's Hospital)
Federico, Antonio (University of Siena)
Gasser, Thomas (German Center for Neurodegenerative Diseases (DZNE))
Groeschel, Samuel (University Children's Hospital)
Hermanns, Sanja (University Hospital of Tübingen (Alemanya))
Klockgether, Thomas (University Hospital Bonn (Bonn, Alemanya))
Krägeloh-Mann, Ingeborg (University Children's Hospital)
Landwehrmeyer, G. Bernhard (University of Ulm)
Leber, Isabelle (Hôpital Pitié-Salpêtière (París, França))
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron)
Mariotti, Caterina (Unit of Medical Genetics and Neurogenetics, Fondazione Instituto de Ricovero e Cura a Carattere Scientifico Istituto Neurologico Carlo Besta)
Meissner, Wassilios G. (Department of Medicine, University of Otago, New Zealand Brain Research Institute)
Molnar, Maria Judit (Institute of Genomic Medicine and Rare Disorders, Semmelweis University)
Nonnekes, Jorik (Radboud University Medical Centre. Centre of Expertise for Parkinson and Movement Disorders)
Ortigoza Escobar, Juan Dario (Institut de Recerca Sant Joan de Déu)
Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron)
Renna Linton, Lori (EuroHSP (França))
Schöls, Ludger (University of Tübingen)
Schuele, Rebecca (University of Tübingen)
Tijssen, Marina A. J. (University of Groningen)
Vandenberghe, Rik (Katholieke Universiteit te Leuven (1970-))
Volkmer, Anna (University College London Hospitals National Health System Foundation Trust National Hospital for Neurology and Neurosurgery)
Wolf, Nicole I. (Emma Children's Hospital)
Graessner, Holm (University Hospital of Tübingen (Alemanya))
Universitat Autònoma de Barcelona

Date:	2021
Abstract:	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.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Rare neurological diseases ; Standards of care ; Training and education ; Virtual healthcare ; European reference network
Published in:	Frontiers in neurology, Vol. 11 (january 2021) , ISSN 1664-2295

DOI: 10.3389/fneur.2020.616569
PMID: 33519696

7 p, 439.8 KB

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