Ern-Rnd European Reference Network for Rare Neurological Diseases

11/11/2025

"That's the thing with this disease: It doesn't just affect the person who has the gene, but entire families." What Martha is referring here to, is the fact,...

11/11/2025

💻 Upcoming on “The Importance of Genetic Counselling in the Diagnostic of Rare Neurological Disorderss”
📅 9th December, 3:00 CET
🗣️ Maria Judit Molnar, Semmelweis University, Budapest, Hungary

Sign up 👉https://t1p.de/csc39

Joint with the European Reference Network for Rare Neuromuscular Diseases and the European Academy of Neurology

11/11/2025

💻 Upcoming on “Recent Advances in Episodic Ataxias”
📅 18th November, 3:00 CET
🗣️ Elisabetta Indelicato and David Pellerin, Medical University Innsbruck, Austria, and Miller School of Medicine, Miami, USA

Sign up 👉 https://t1p.de/cgntq

Joint with the European Reference Network for Rare Neuromuscular Diseases and the European Academy of Neurology

07/11/2025

06/11/2025

Stay informed: Whether you’re a clinician, patient, carer, or patient representative, our ERN-RND is your go-to source for the latest updates on Rare Neurological Diseases in Europe.

What you’ll find inside: news from across the ERN-RND network, new clinical support tools & patient information leaflets, free webinars & training opportunities, funding calls and collaboration offers and upcoming events

Read the newsletter: https://www.ern-rnd.eu/?mailpoet_router&endpoint=view_in_browser&action=view&data=WzEyMSwiZTZjZTRlYjc1MmQ5Iiw2LCJmMmI1NGEiLDEwMSwxXQ

To receive our monthly newsletter, please sign up here: https://www.ern-rnd.eu/news/newsletter/

06/11/2025

"That's the thing with this disease: It doesn't just affect the person who has the gene, but entire families." What Martha is referring to here is Huntington's Disease (HD) that has a 50% chance of being inherited. If a parent has the condition, there is a high likelihood that their child could inherit it as well.

Our patient journey movie "Huntington's Family" portrays the life of a family that is affected by this disease: There is Martha, who is carer to her husband Tom and their daughter Rachel, who also has HD. And there is Rachel's daughter Chloe, who went to genetic counselling and is in the process of being tested. While Rachel's brother doesn't want to be tested, but whose wife is expecting a child that could have the gene, too. "It's a slow train wreck", Martha says.

The movie shows the different family members’ coping strategies over the years, thereby capturing both their struggles and their moments of light.



https://youtu.be/nqVjbJrK1tA European Huntington Association Българска Хънтингтън Асоциация - Bulgarian Huntington Association Association Huntington France Huntington's Australia Deutsche Huntington-Hilfe e.V. Huntingtono ligos asociacija ACHE Corea Huntington Española
European Federation of Neurological Associations EURORDIS-Rare Diseases Europe Dystonia Europe Euro-ataxia Jardin Joint Action EPNS - European Paediatric Neurology Society European Academy of Childhood-onset Disability

"That's the thing with this disease: It doesn't just affect the person who has the gene, but entire families." What Martha is referring here to, is the fact,...

06/11/2025

🖥️ On Thursday, 30 October, 2025, Dystonia Europe held a webinar with three dystonia experts, and invited the audience to share their questions with them.
▶️ If you missed the webinar, no problem! You can watch the recording now on our YouTube channel here: https://youtu.be/a27Z0lHm2a4

Thanks to all of you who joined us on the evening and shared your questions. We hope you found the event informative. A huge thank you also to our experts, for giving their time and sharing their knowledge with our community.
Our expert panelists were:

🔸 Prof. Alfonso Fasano – Prof of Neurology at Toronto Western Hospital, University of Toronto, Canada and Humanitas University, Milan, Italy
🔸 Dr. Anna Castagna – Head of Movement Disorder Center and Botulinum Toxin Clinic at Fondazione Don Gnocchi Research Hospital, Milan, Italy
🔸 Prof. Kathryn Peall – Professor of Clinical Neurosciences, Cardiff University, Wales, UK

04/11/2025

💻 Upcoming on “Fluid Biomarkers in Frontotemporal Dementia”
📅 2nd December, 3:00 CET
🗣️ Domenico Plantone, AOU - University Hospital Siena, Italy

Sign up 👉 https://t1p.de/j8lm5

Joint with the European Reference Network for Rare Neuromuscular Diseases and the European Academy of Neurology

28/10/2025

Byebye, Tutzing! A big THANK YOU to everyone who joined our Annual Meeting — on-site and online! We had an amazing time filled with inspiring talks, great discussions, and lots of positive energy. Until next time!

28/10/2025

Just finished our third session of today, chaired by our coordinator Holm Graessner. Under the topic 'JARDIN - Integration of ERNs into National Healthcare Systems' the following was presented:
- Overview and first results of the JARDIN project presented by Till Voigtlaender
- National Reference Networks presented by Holm Graessner
- Developement and implementation of ERN Care Pathways presented by Biruté Tumiené
- National Support of ERN Members presented by Pavla Delezalová
Thank you very much to all speakers!

28/10/2025

Our second session 'Multidisciplinary Case Discussion for Controlling Access and Ensuring Best Possible Outcome for Highly Specialised Therapies' was chaired by Ludger Schöls. It consisted of three case presentations and discussions:

- Epilepsy Surgery as an EpiCARE Use Case presented by Alexis Arzimanoglou

- Deep Brain Stimulation - Pitch and Live Case Discussion presented by Martin Reich

- Metachromatic Leukodystrophy Treatment Eligibility - Pitch and Live Case Discussion presented by Nicole Wolf

A warm thank you to all speakers!

28/10/2025

💻 Upcoming on “Guidelines on the Assessment and Treatment of Neurogenic Urinary and Sexual Symptoms (NEUROGED Guidelines)”
📅 25th November, 3:00 CET
🗣️ Alessandra Fanciulli and Pietro Guaraldi, Medical University Innsbruck, Austria, and Azienda USL di Bologna, IRCCS Institute of Neurological Sciences, Bologna, Italy

Sign up 👉 https://t1p.de/5jygy

Joint with the European Reference Network for Rare Neuromuscular Diseases and the European Academy of Neurology