ERN-RND | European Reference Network on Rare Neurological Diseases
for rare or low prevalence complex diseases
Patient Journeys are info-graphical overviews that visualize patients’ needs in the care of their rare disease. Because Patient Journeys are designed from the patient’s perspective, they allow clinicians to effectively address the needs of rare disease patients. Patient Journeys consider that patients’ needs may differ at different stages of the disease – e.g., initial symptoms … Continue reading “Patient journey – Huntington’s disease”
Guidelines for Huntington’s disease Translated to French: Guide clinique international pour le traitement de la maladie de Huntington Translated to German: Internationale Guideline für die Behandlung der Huntington-Krankheit Translated to Spanish: Guia internacional de practica clinica para el tratamiento de la enfermedad de Huntington
Please note that this section includes useful information from a variety of sources provided by ERN-RND members but which hasn’t been endorsed by ERN-RND. English language: OCCUPATIONAL THERAPY OCCUPATIONAL THERAPY CLINICAL TIPS FOR HUNTINGTON’S DISEASE – Social and Leisure by UK HD special interest group for occupational therapists (EHDN/Huntington’s Disease Association) OCCUPATIONAL THERAPY CLINICAL TIPS … Continue reading “Patient information – Chorea & Huntington’s disease – Adult”
Please note that this section includes useful information from a variety of sources provided by ERN-RND members but which hasn’t been endorsed by ERN-RND. Multiple languages (36): Disease specific patient education handouts on Huntington’s disease by the Movement Disorders Society English language: NUTRITION Huntington disease, principles and practice of nutritional management by Jiří Klempíř and … Continue reading “Patient information – Chorea & Huntington’s disease – Adult & Paediatric”
May is Huntington’s Disease Awareness Month. Raise awareness by lighting up your home, sharing pictures and stories on social media. You can use the hashtag #LightItUp4HD . You can find more information on the European Huntington Association webpage’s here.
Consensus papers and best practice Information page by the NHS Evidence Burgunder, J.-M. (2013). Recent advances in the management of choreas. Therapeutic Advances in Neurological Disorders, 6(2), 117–127. doi:10.1177/1756285612471700 Treatment approach for HD Books “Huntington… et alors? Comprendre la maladie et vivre avec” Videos “What is Huntington’s Disease” is an educational video and testimonial from UCL … Continue reading “Useful links, training resources, evidence and publication – Chorea & Huntington’s disease”
European Huntington’s Association is the European umbrella organisation for HD patient organisations: European Huntington’s Association European Huntington’s Association includes national patient organisations from all over Europe which currently include the following: Members of the Europe Huntington’s Association listed per country
REGISTRY REGISTRY is a multi-centre, multi-national, European (with some associate partners wordlwide) observational study of Huntington’s disease sponsored by CHDI, a non-profit organisation that supports a variety of research projects seeking to find treatments for HD. The aims of REGISTRY are: Obtain natural history data on a wide spectrum of individuals affected by HD Relate … Continue reading “Registries – Chorea & Huntington’s disease”
Belgium University Hospitals Leuven Contact: Prof. Wim Vandenberghe Phone: +3216344280 Email: wim.vandenberghe@uzleuven.be Czech Republic General University Hospital Prague Contact: Dr Jiri Klempir Phone: +420 2 2496 5550 Email: jiri.klempir@seznam.cz France Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salepétrière Contact: Prof. Alexandra DURR Phone: +33 (0)1 42 16 1346 or +33 (0)1 57 27 45 31 Email: elodie.petit@icm-institute.org … Continue reading “ERN-RND centres – Chorea & Huntington’s disease”
According to the European Huntington’s Disease Network, ” Huntington’s Disease is a rare, hereditary , degenerative disorder of the brain that was first described by George Huntington”. Please find more information on the EHDN’s website.
The Chorea & Huntington’s disease Disease Knowledge Page provides reference information on care of chorea & huntington’s disease. Information and knowledge that has been developed or endorsed by ERN-RND is found in the blue boxes. Full definition of Huntington’s disease Centres and contact details for Chorea & Huntington’s disease
In this edition of “Meet the members”, we interview Nataliya Grigorova, Bulgarian Huntington Association, ERN-RND ePAGs group coordinator. She speaks about the idea that the most important step for patients and their care is to improve their current condition and to increase their quality of life. She also speaks about her wish to foster equal … Continue reading “Meet the members: Nataliya Grigorova”
Welcome to ERN-RND your network for Rare Neurological Diseases in Europe The ERN-RND is a European Reference Network established by the EU to support patients and families affected by rare neurological diseases (RND) which requires much specialised knowledge, treatment and resources. Some diseases are so rare that the necessary knowledge might not be available in … Continue reading “Welcome to ERN-RND”
University Hospital Henri Mondor, National Reference Centre for Huntington’s Disease, France Pitié-Salpêtrière Hospital, National Reference Centre « Neurogenetics », Paris, France
Al-Saady ML, Kaiser CS, Wakasuqui F, Korenke GC, Waisfisz Q, Polstra A, Pouwels PJW, Bugiani M, van der Knaap MS, Lunsing RJ, Liebau E, Wolf NI (2021). Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy. Neuropediatrics. Dec;52(6):489-494. doi: 10.1055/s-0041-1724130. Epub 2021 Apr 14. PMID: 33853163. Afonso Ribeiro J, Simeoni S, De … Continue reading “2021 Publications acknowledging ERN-RND”
In this edition of “Meet the members”, we interview Astri Arnesen, ERN-RND ePAG representative and president of the European Huntington Association. She will tell us more about her work within ERN-RND and her expectations for the network. 1. What is your profession (department, affiliation, etc.) and your medical expertise or specific field of interest? I … Continue reading “Meet the members: Astri Arnesen”
In this edition of “Meet the members”, we interview Juan Darío Ortigoza-Escobar, a paediatric neurology consultant who leads the Movement Disorders Unit at the Paediatric Neurology Department of the Sant Joan de Déu Hospital in Barcelona, Spain. He will tell us a bit more about his work in the hospital, within ERN-RND and his expectations … Continue reading “Meet the members: Juan Darío Ortigoza-Escobar”
