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are you at this year's EAN Congress in Helsinki? Then come and visit us at our booth (N21) in the Neurohood! And don't miss our talks by Holm Graessner and Carola Reinhard (see below).
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#ExcitingNews: We are happy to announce that our patient advocate John Gerbild (representative for: Ataxia/HSP) is now a newly elected Board Director at EURORDIS! Congratulations, John!
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What else is awaiting you in this issue? The recordings of our Winter School "Challenges of Treating Rare Neurological Diseases" are now available! If you missed a session, you can now watch them here. A new care standard is available: ERN-RND has endorsed the Gross Motor Function Classification in Metachromatic Leukodstrophy (GMFC-MLD). And we talked with Sylvia Boesch about predictors for DBS in monogenic dystonias - watch the video interview here.
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And as always you will find information on our upcoming webinars and events. Enjoy reading!
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Best wishes,
The ERN-RND Coordination team
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CONTENT
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About us
Disease Knowledge
ERN-RND Webinars
Cross-border Healthcare
Upcoming Events
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ABOUT US
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Are you at this year's EAN Congress in Helsinki? Then come and visit us at our booth (N21) in the Neurohood and have a coffee with us - the ERNs EURO-NMD, epiCARE and EFNA, the European umbrella organisation of neurological patient advocacy groups, will also be there!
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----- SUNDAY 22 June -----
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----- MONDAY 23 June -----
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John Gerbild elected as Board Director for EURORDIS
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We are happy to anonunce that our patient advocate John Gerbild (representative for Ataxia/HSP) is now a newly elected Board Director at EURORDIS! Congratulations, John! Also, Graham Slater and Kirsten Johnson have been re-elected to their seats.
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Find out more about John here. Find all Board Directors here.
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Recordings of our Winter School "Challenges of Treating Rare Neurological Diseases" are now available
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Did you miss a session during our winter school this year? You can now watch the recordings! Please find below a list of the recordings. You can also find them on our website.
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Francesca Fumagalli - IRCCS San Raffaele Scientific Institute, Milan, Italy
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Caroline Sevin and Fanny Mochel - Kremlin-Bicêtre University Hospital and La Pitié-Salpêtrière Hospital, Paris, France
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Thomas Opladen - University Children's Hospital, Heidelberg, Germany
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Bernhard Landwehrmeyer - University Hospital Ulm, Germany
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Marlen Lauffer - Leiden University Medical Center​, The Netherlands
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Annemieke Buizer - Amsterdam UMC, The Netherlands
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Ronald Buijsen - Leiden University, The Netherlands
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Gabriella Paparella - IRCCS Eugenio Medea, Institute for rehabilitation medicine, Italy
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Michèl Willemsen - Radboudumc, Nijmegen, The Netherlands
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Mayke Oosterloo - Maastricht University Medical Center, The Netherlands
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Adam Vogel - University of Melbourne, Melbourne, Australia
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Review on DBS for Dystonia - Interview with Sylvia Boesch
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Deep Brain Stimulation (DBS) is an electrical stimulation in the brain to treat movement disorders, like Parkinson's Disease or Dystonias. DBS thereby provides relief of the main symptoms, like tremor.
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While DBS works well for a subgroup of Dystonia patients, it has only minor or no effect in other subgroups. If the efficacy of DBS in monogenic Dystonias might be explained by the genetic cause of the disease is currently analysed by members of the disease group Dystonia, paroxysmal disorders and NBIA through a systematic review of the available literature.
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Learn about the preliminary results of the study in our video interview with Sylvia Boesch here.
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The methodology used for the systematic review is already published. Learn more here.
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FOLLOW US ON BLUESKY
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Also on BlueSky: JARDIN, ERDERA, The European Commission, ERN eUROGEN, ERN VASCERN, ERKNet, MetabERN, EFNA, EURORDIS, ESHG, EAN, European Brain Council - add us all, many more will follow!
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DISEASE KNOWLEDGE
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NEW Clinical Rating Scale For Leukoencephalopathies
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The GMFC-MLD has been endorsed as clinical rating scale for Leukodystrophies - translations into other Europen languages will follow soon.
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ERN-RND WEBINARS
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Upcoming Joint Educational Webinars
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ERN-RND provides free educational webinars on rare neurological and neuromuscular diseases - in collaboration with the European Reference Network for Rare Neuromuscular Diseases (EURO-NMD) and the European Academy of Neurology (EAN). The goal is to share knowledge on rare neurological, movement and neuromuscular disorders via a series of webinars presented by expert members of both networks.
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16.09.2025, 3-4 pm CEST | ‘Neurological and Non-neurological Aspects in Palliative Care of FTD and PPA Patients’ by Renate Wahl, University Hospital Aachen, Germany. SIGN UP here. (ERN-RND)
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23.09.2025, 3-4 pm CEST | ‘Patient Journeys as Working Documents to Identify Gaps in Care and Adapt Care Pathways and Better Meet the Needs of Patients’ by Petya Mihaylova, Mary Kearney, Irish Consortium: Tallaght University Hospital and Children's Health Ireland & FARA Ireland. SIGN UP here. (ERN-RND)
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28.10.2025, 8am CET | ‘Scientific Symposium European Healthcare for RND Patients’, part of the ERN-RND Annual Meeting Care-RND 25. SIGN UP here. (ERN-RND)
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11.11.2025, 3-4 pm CET | ‘Guidelines on the Assessment and Treatment of Neurogenic Urinary and Sexual Symptoms (NEUROGED Guidelines)’, by Alessandra Fanciulli, Pietro Guaraldi, Medical University Innsbruck, Austria & IRCCS - Institute of Neurological Sciences of Bologna, Italy. SIGN UP here. (ERN-RND)
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eanCampus offers monthly webinars, 2 master classes per year and weekly podcasts on 3 expert levels (basic, advanced, expert), in total more than 1000 pieces.
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CROSS-BORDER HEALTH CARE
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MLD Treatment Eligibility Panel
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In cooperation with the MLD initiative, ERN-RND established a standard pathway for consulting an international MLD expert panel whenever possible benefits of treatment with hematopoietic stem cell transplantation or gene therapy are not straightforward for a patient with confirmed MLD diagnosis. Upon submission of an eligible case, the treatment eligibility panel is convened on an ad hoc basis, organized and supported by the ERN-RND CPMS helpdesk.
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We encourage all physicians in Europe to discuss the possible benefits of treatment options for difficult cases with this MLD expert panel.
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You would like to discuss one of your patients with the panel?
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Online Multidisciplinary Board for Deep Brain Stimulation in Dystonia
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ERN-RND has established a standard pathway for providing multidisciplinary expert recommendations concerning Deep Brain Stimulation (DBS) in Dystonia.
Potential questions which the multidisciplinary board may address include (but are not limited to):
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- INDICATION DBS candidate yes/no?
- TARGET Which Target; GPi, STN, VoA?
- PROGRAMMING Treatment advices of implanted patients
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To make use of this opportunity, relevant medical data must be provided via the telemedicine platform CPMS beforehand.
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Advice will be provided by at minimum one dystonia expert specialized in DBS and a stereotactic surgeon specialized in DBS, plus further specialists invited case-by-case in a virtual meeting with the referring clinician.
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Neuroradiology Expert Advice for Diagnostic and Management Decisions in RND
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ERN-RND has established a standard pathway for providing expert neuroradiological advice across sites. Our ERN-RND member hospitals (and affiliated partners) are encouraged to contact us for any RND case for which they would like a second opinion as a basis for individual recommendations for diagnostic and management strategies to optimize patient care.
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Possible scenarios for which clinicians might want to use this offer include (but are not limited to):
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- Child with mild developmental delay: benign / onset of disease? -> cMRI: delayed brain maturation vs. (subtle) structural abnormalities
- Child with delay + subtle signs: acquired / genetic? -> cMRI: acquired disease, e.g. CMV infection / TORCH vs. likely genetic
- Acutely ill patients with suspected encephalopathy -> cMRI: secondary, e.g. infectious / para-infectious vs. metabolic / genetic
- Cerebellar syndrome with fast progression -> cMRI: secondary, e.g., cerebellitis vs. genetic
- Patient after pharmacological treatment showing brain volume reduction -> cMRI: side effects vs. neurodegenerative / neurogenetic disease
To make use of this opportunity, imaging data must be provided via CPMS. Advice will be provided in a virtual meeting between the referring physician plus the initial neuroradiologist and a dedicated ERN-RND neuroradiological expert clinician (and further experts if necessary. Meetings are facilitated by the ERN-RND CPMS helpdesk.
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You are affiliated to an ERN-RND expert center and would like to receive neuroradiology advice for one of your patients?
Please contact us.
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Learn more about the Neuroradiology Expert Advice Panel in this video interview with Eva Bültmann, who is an expert in neuroradiology and coordinates this panel.
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UPCOMING EVENTS
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11th Congress of the European Academy of Neurology
June 21-24, Helsinki and online
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The overarching theme for the EAN Congress 2025 in Helsinki explores the multifaceted relationship between neurology and society. The topic particularly challenges our practice since our society impacts the progress, priorities, and relevance of neurology, and, conversely, neurology influences decisions and developments in society. This creates a highly complex and consequential set of interactions that affect all of us - professionals and patients alike.
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--------- Come and visit us at our booth (N21) in the Neurohood! ---------
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37th Annual Meeting of EACD & 4th Triennial Meeting of IAACD
June 24-28, Heidelberg, Germany and Online
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The combined congress of the European Academy of Childhood Disability together with the International Alliance of Academies of Childhood Disability (EACD-IAACD) will be a hybrid event.The online transmission during daytime will also be supported by 24hour-online live sessions on 26th and 27th June enabling for the first time active worldwide participation.
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Ataxia Teleangiectasia Conference
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Ataxia Teleangiectasia Clinical Research Conference 2025
June 25-27, Loughborough, UK
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The AT Society, in collaboration with the A-T Global Alliance, will be hosting the AT Clinical Research Conference, which aims to bring together the world’s leading AT scientists and clinical experts to collaborate, share ideas and drive forward solutions to improve patient outcomes. It will focus on research and clinical advancements in AT, with topics covering diagnostic challenges, immunology, respiratory medicine, cancer, and more. It’s an incredible opportunity to collaborate, learn, and network with leaders in the field.
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The conference is conveniently taking place in the heart of England, on the site of an outstanding UK university, with typically British villages just minutes away, Shakespeare’s birthplace and one of the UK’s best loved national parks within easy reach, and only 90 minutes from London.
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To register click here. Find the agenda here.
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16th European Paediatric Neurology Society Congress
July 8-12, Munich, Germany
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The 16th EPNS Munich Congress will classify the field into A for acute, B for Brain, Health & Science and C for Chronic. This way an own alphabet of research and care taking is created: dedicated to the children, equipped for the extending variety of neuropaediatric diseases, stimulating and integrating science.
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To register click here. Find more Information here.
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MDS-ES Dystonia: Bridging Theory and Hands-On Expertise
September 5-6, Istanbul, Turkey
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The MDS-ES Dystonia: Bridging Theory and Hands-On Expertise course will provide an opportunity for in-depth exploration of dystonia, focusing on its pathophysiology, diagnosis, and current management strategies. The course will consist of theoretical lectures and hands-on practice sessions to ensure a comprehensive learning experience. Attendees will gain a deeper understanding of pathophysiology and genetics of various types of dystonia. The course will also cover emerging treatment modalities, including botulinum toxin injections, deep brain stimulation (DBS), and physical therapy interventions.
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2nd Symposium on the Connection Between Physics and Metabolism in Brain Functions
November 7, Paris (France) and online
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Metabolism and cellular mechanics are closely intertwined. Following the success of the 1st international symposium connecting physics and metabolism in brain functions (Barcelona, July 2024), we are pleased to welcome you in Paris for this 2nd edition. This event will bring together world experts in physics, chemistry, neurobiology, and philosophy with the aim of fostering new collaborations and promoting the so-called “night science”, an interdisciplinary approach by which new ideas arise and questions/ hypotheses are generated. Join us and interact with prestigious speakers who will discuss the physics of cellular trafficking, neurotransmission, sensory systems, and beyond. The symposium will also integrate musical pieces to deepen our quest for understanding the living.
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Find programme and registration here.
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NEWSLETTER
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The ERN-RND Newsletter is published monthly. Please forward this newsletter to your colleagues who can also sign up to receive it directly here or by emailing communication@ern-rnd.eu
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Thank you for your support and take care.
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ERN-RND Coordination team
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