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this year's EAN Congress is coming up in June and we will be having a booth (N22) there - come and visit us! And don't miss our talks by Holm Graessner and Carola Reinhard, as well as from other ERN-RND members and partners (see below).
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What's new in May? The recordings of the EESC Conference in Warsaw last month are now available - including talks by our coordinator Holm Graessner and our patient advocate Lori Renna Linton. Our member Robert Rusina spoke with us about his survey on Clinical Practice for Primary Progressive Aphasia in ERN-RND in a video interview.
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In regards to Disease Knowledge there are 2 updates this time: The Diagnostic Flowchart for Adult Ataxias is now available in 10 European languages. And the children's book on Adrenoleukodystrophy (When my brother got ill), which we introduced to you last year, is now available in German and Spanish (for free). And lastly, a new survey on Myoclonus Dystonia Syndrome with a multidisciplinary approach has been published.
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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
Publications
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 (N22) in the Neurohood and have a coffee with us - the ERNs EURO-NMD, epiCARE and the patient organization EFNA, the European umbrella organisation of neurological patient advocacy groups, will also be there!
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Please find below the ERN-RND contributions.
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----- SUNDAY 22 June -----
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----- MONDAY 23 June -----
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Recordings from the EESC Conference in Warsaw
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"What we do in the ERNs is collaboration, collaboration and collaboration. And it should be supported and enabled by data infrastructure and data regulation. But at the moment, we also face the situation that it's actually blocked and being hindered by data regulations. So, please change that. [...] We actually can provide really added value to the patients when we are being supported and enabled, and not being blocked", so Holm Graessner at the panel Patient Data as a Fundamental Element in Addressing the Needs of Patients with Rare Diseases at the EESC conference “Towards an EU Action Plan on Rare Diseases” in Warsaw (April 10).
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Also, our patient representative Lori Renna Linton contributed with a talk: She spoke about her own patient journey experience and the worth of having a patient journey document that can help both patients and non-specialists in different situations in everyday life.
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Did you miss them? Watch the recorded talks here.
Holm Graessner’s talk starts at 7:46:00, Lori Renna Linton’s talk at 2:35:00.
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ERN-RND Clinical Practice for Primary Progressive Aphasia
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Primary progressive aphasias (PPA) are rare neurodegenerative disorders with prominent speech and language impairment. Diagnosis is often delayed and therapeutic options are sparse. How does clinical practice for PPA in ERN-RND centers look like?
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A survey among ERN-RND centers (physicians, neurologists, psychiatrists), specialized in Frontotemporal Dementia was conducted in order to evaluate current clinical practice with regards to available PPA management options (like referral pathways, proportion subtypes, speech and language therapy).
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For a taste of what is to come in the paper, watch our video interview with Robert Rusina 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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UPDATE Diagnostic Flowchart for Adult Ataxias Available in 10 Languages
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The updated version of the "Diagnostic Flowchart for Adult Ataxias" (09/2024) is now available in 10 European languages. Find them all here.
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Children's Book on Adenoleukodystrophy available in German and Spanish
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This children's book was developed by "Alex - the Leukodystrophy Charity". It's meant to support the siblings of children diagnosed with childhood cerebral adrenoleukodystrophy (CCALD). The primary goal is to support children and their families to build emotional resilience, and openness to talk and ask questions about a diagnosis of CCALD.
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You can read the book online for free or order a hard copy.
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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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Next ERN-RND webinar will be on:
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06.05.2025, 3-4 pm CEST | ‘Palliative Care in Chorea and Huntington's Disease’ by Jean-Marc Burgunder, University of Bern, Switzerland, Neurology Clinic. SIGN UP here. (ERN-RND)
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08.05.2025, 4-5 pm CEST | ‘FSHD webinar series – Episode 1: Genetic Diagnosis’ by Emiliano Giardina, University of Rome Tor Vergata, Italy. SIGN UP here. (EURO-NMD)
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13.05.2025, 3-4 pm CEST | ‘Neurogeriatric Aspects in Rare Forms of Ataxia annd HSP: Later on Clinical Manifestations and Secondary Symptoms’ by Eleni Zamba-Papanicolaou, Cyprus Institute of Neurology and Genetics, Cyprus. SIGN UP here. (ERN-RND)
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15.05.2025, 4-5 pm CEST | ‘FSHD webinar series – Episode 2: International Clinical Care Guidelines’ by Teresinha Evangelista, Institute of Myology & Pitié Salpêtrière Hospital – AP-HP, Paris, France. SIGN UP here. (EURO-NMD)
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20.05.2025, 3-4 pm CEST | ‘Recent Advances in Clinical Trials in Multiple System Atrophy’ by David Bendetowicz. SIGN UP here. (ERN-RND)
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28.05.2025, 4-5 pm CEST | ‘FSHD webinar series – Episode 4: Clinical Trial Readiness’ by Nicol Voermans & Ria de Haas, Radboud University Nijmegen Medical Centre, the Netherlands. SIGN UP here. (EURO-NMD)
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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. The next webinar will be on:
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21.05.2025, 6-7 pm CEST | ‘Burnout in Neurology and Psychiatry: Shared Challenges, Shared Solutions’ by David Gurrea Salas, Gail Kinman. More information here.
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28.05.2025, 3-4 pm CEST | ‘Reference Values in Clinical Neurophysiology - Creating your Own and Using them Responsibly’ by Martijn Tannemaat, GNens van Alfen, Kristian Bernhard Nilsen. More information here.
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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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New survey on Myoclonus Dystonia Syndrome
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Myoclonus-dystonia syndrome (MDS) is a genetic movement disorder with childhood-onset, most frequently caused by SGCE defects. For this survey two different questionnaires were distributed: one among neurologists from ERN-RND, and another among patients and families with SGCE-related MDS.
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Offering a multidisciplinary approach that tackles both movement disorders and neuropsychiatric comorbidities could enhance the diagnosis and treatment of patients with SGCE-MDS.
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Vanegas MI, Marcé-Grau A, Cazurro-Gutiérrez A, Hamami F, Timmers ER, Weißbach A, Tijssen MAJ, González V, Miguel LD, Martin M, Benson M, Reinhard C, Pérez-Dueñas B. Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey. Mov Disord Clin Pract. 2025 Mar 15. doi: 10.1002/mdc3.70028. Epub ahead of print. PMID: 40088059.
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JARDIN NEWSLETTER #2
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JARDIN's #2 Newsletter is Out - Don't Miss it!
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In this second edition of the external newsletter, you will find highlights from recent events and a look at what is coming next, as well as an update on the progress of Joined Actions so far.
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To subscribe for the JARDIN newsletter, click here.
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UPCOMING EVENTS
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SYMPOSIUM ON LEUKODYSTROPHIES
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Leukodystrophy Teaching Course and Symposium
May 21-23, Amsterdam UMC
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Due to its 25th anniversary as well as the retirement of its founder, Marjo van der Knaap, the Amsterdam Leukodystrophy Center invites to a symposium on May 22-23, 2025.
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The symposium is focusing on the latest advancements in leukodystrophy research, including novel insights into disease concepts, pathomechanisms, and treatment approaches. Additionally, on the afternoon of May 21, they will host a specialized course on leukodystrophies.
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58th European Human Genetics Conference
24-27 May, Milan (Italy) and online
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The program will reflect the broad church of our membership with educational sessions, symposia of selected abstracts, invited speakers and posters. Find out more here.
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1st Paediatric Movement Disorders Conference
June 06-08, Boston, MA, USA
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The MDS-PAS Pediatric Movement Disorders Course will provide a state-of-the-art review of current practices, controversies, and active areas of research in pediatric movement disorders. This program will bring together the pediatric movement disorders community to discuss topics pertinent to specialists, neurologists, researchers, and clinicians from adjacent fields of neurosurgery and genetics.
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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 (N22) 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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