The European Reference Network for Rare Neurological Diseases.
The European Reference Network for Rare Neurological Diseases.
复制标题
DOI：
10.3389/fneur.2020.616569
复制
发表时间：
2020
影响因子：
3.4
通讯作者：
Graessner H
中科院分区：
文献类型：
--
作者：
Reinhard C;Bachoud-Lévi AC;Bäumer T;Bertini E;Brunelle A;Buizer AI;Federico A;Gasser T;Groeschel S;Hermanns S;Klockgether T;Krägeloh-Mann I;Landwehrmeyer GB;Leber I;Macaya A;Mariotti C;Meissner WG;Molnar MJ;Nonnekes J;Ortigoza Escobar JD;Pérez Dueñas B;Renna Linton L;Schöls L;Schuele R;Tijssen MAJ;Vandenberghe R;Volkmer A;Wolf NI;Graessner H
虽然罕见疾病（RD）的定义是低患病率，但患有RD的患者总数很高，其中大多数具有神经系统表现，涉及中枢、外周神经和肌肉。2017年，成立了24个欧洲参考网络（ERN），每个网络都专注于一组特定的罕见或低患病率复杂疾病，以改善对RD患者的护理。一个主要目标是"知识旅行，而不是病人"，这已经通过实施临床病人管理系统（CPMS）付诸实践，使临床医生能够进行泛欧虚拟咨询。欧洲罕见神经系统疾病参考网络（ERN-RND）为受罕见神经系统疾病（RND）影响的患者提供知识共享和护理协调的基础设施，这些疾病涉及最常见的中枢神经系统病理状况。它涵盖以下疾病组：（i）小脑共济失调和遗传性痉挛性截瘫;（ii）亨廷顿氏病和其他舞蹈病;（iii）额颞叶痴呆;（iv）肌张力障碍、（非癫痫性）阵发性疾病和神经变性伴脑铁蓄积;（v）白质脑病;和（vi）非典型帕金森综合征。目前，它联合了21个欧洲国家的32个专家中心和10个附属合作伙伴，以及患者代表，但由于正在进行的扩展过程，它将很快覆盖几乎所有欧盟国家。疾病专家组制定并同意诊断流程图和疾病量表，以评估RND的不同方面。ERN-RND已开始在CPMS中讨论诊断不明确的患者，是作为Solve-RD基础的四个ERN之一，并建立了RND培训和教育计划。该网络将通过建立ERN-RND登记研究来促进试验准备，该登记研究具有在ERN-RND中心就诊的所有患者的最小数据，从而提供现有基于基因型的队列的独特概述。ERN的总体目标是改善RD患者获得高质量诊断、护理和治疗的机会。基于这一目标，欧洲委员会定期监测ERN，以向研发界和公众提供透明度和保证。
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.
登录
查看更多内容
影响因子：
5.2
作者：
Wakap, Stephanie Nguengang;Lambert, Deborah M.;Rath, Ana
通讯作者：
Rath, Ana
影响因子：
3.7
作者：
Héon-Klin V
通讯作者：
Héon-Klin V
影响因子：
5.1
作者：
Leone, M. A.;Keindl, M.;Federico, A.
通讯作者：
Federico, A.
影响因子：
5.1
作者：
Painous, C.;van Os, N. J. H.;Tijssen, M. A. J.
通讯作者：
Tijssen, M. A. J.
影响因子：
5.1
作者：
Valadas, A.;Contarino, M-F.;Tijssen, M. A.
通讯作者：
Tijssen, M. A.