Teaching courses, workshops held at the 2025 World Congress of Neurology in Seoul, South Korea.
By Antonio Federico, Eva Feldman, and Maria Judit Molnar
Rare neurological diseases (RNDs) are a heterogeneous group of disorders that mainly affect the central and peripheral nervous systems and muscle. Because RNDs account for almost 50% of all rare diseases, neurologists play a key role in their diagnosis and research. Traditionally, however, neurologists primarily direct their attention toward more common diseases, such as dementia, multiple sclerosis, headache, epilepsy, and stroke. This results in a reduced attention on RNDs that collectively has had a profound impact on health systems in Europe as well as in other countries around the world.
Rare diseases are commonly considered “orphan” diseases, as only a few of them have treatments. A recent article on RNDs, “Awareness and Care Practices for Rare Neurologic Diseases Among Senior Neurologists: A Global Survey,” published by the World Federation of Neurology (WFN) Subspecialty Group highlights the significant global effort still needed to ensure that these orphan diseases are no longer left without doctors capable of treating them.
In recent years, considerable interest in RNDs has emerged in Europe and the U.S., stimulating more specific programs of care and management. In fact, the diagnostic difficulties and the need for super-specialization in the RND field have prompted the organization of dedicated networks of RND centers around the world. These centers collect patient data to support diagnosis, treatment, and research advances.
The WFN, along with many other international organizations, has been sensitive to this problem, promoting interest in the development of activities and projects focused on RNDs. In 2020, the Subspecialty Group on RNDs was created. The aims of this group include:
- Improving the diagnosis and treatment of RNDs
- Providing a forum for discussion and exchange of experiences on all issues related to RNDs
- Advising and collaborating with international organizations to promote the prevention of and care for RNDs
Specific activities of the WFN Subspecialty Group on RNDs include stimulating interest in RNDs among world neurologists, facilitating RND diagnosis and therapy when possible, promoting the collection of epidemiological data across the world, and facilitating the development of different models of cross-border health care.
The group also seeks to promote the exchange of ideas and information regarding quality-of-life issues, develop and disseminate best practice guidelines, collect data on RND diagnostic capabilities in different countries, and analyze how world neurologists perceive RNDs. Finally, the group is dedicated to identifying RND care organizations in different countries and to collaborating with European networks, organizations focused on RNDs (e.g., National Organization for Rare Disorders, Orphanet, EURORDIS-Rare Diseases Europe, and European Reference Networks), and other WFN specialty groups to educate neurologists on RNDs, especially in developing countries.
With the assistance of experts present in the group, it also can act as a resource for information on RNDs, answer questions from patients, families, and doctors, and collaborate with family-based associations and disease-specific groups.
Notably, the Subspecialty Group on RNDs has organized several workshops during World Congress of Neurology (WCN) meetings that focus on different aspects of RND diagnosis and care. During the WCN that took place Oct. 12-15, 2025, in Seoul, South Korea, two activities were organized — a teaching course that was divided into two sessions and a focused workshop.
Teaching Session Presentations
The first teaching course, “The Diagnosis and Therapy of Rare Neurologic Disorders (Part 1),” was dedicated to the general clinical approach to the diagnosis and care of RNDs. This session included lectures from three main experts in the area.
Helen Cross
The first presentation was made by Prof. Helen Cross, the Prince of Wales’s Chair of Childhood Epilepsy and head of the Developmental Neuroscience Program at the University College London-Great Ormond Street Institute of Child Health. She is also an honorary consultant in pediatric neurology at the Great Ormond Street Hospital for Children NHS Foundation Trust in London and Young Epileps in Lingfield, U.K. She brilliantly covered aspects of rare genetic epilepsies, where understanding the pathogenetic mechanism was important to improving and personalizing therapies and consequently improving clinical outcomes.
Antonio Federico
Next, Prof. Antonio Federico, chair of the WFN Subspecialty Group on RNDs and emeritus professor at the University of Siena, discussed the common issues of years-long delays or misdiagnosis of RNDs that frequently stem from confusing them with more common neurologic disorders. In his presentation, “Rare Neurologic Disorders Mimicking a MS-like Phenotype,” he reported on many cases with white matter changes that for a long time were considered multiple sclerosis but were ultimately diagnosed as metachromatic leukodystrophy, Krabbe disease, CADASIL, and Leber’s hereditary optic atrophy, among others.
Amadou Gallo Diop
Finally, rare causes and forms of vascular brain diseases were described by Prof. Amadou Gallo Diop, professor of medicine and neurology at the faculty of medicine at the University of Dakar in Senegal.
Maria Judit Molnar
In a separate teaching course, four additional experts also presented on RNDs. Prof. Maria Judit Molnar, is professor of neurology, psychiatry, clinical genetics, doctor of the Hungarian Academy of Sciences, and director of Semmelweis University’s Institute of Genomic Medicine and Rare Disorders. She is also a member of the Committee of Orphan Medicinal Products of the European Medicines Agency and a recognized leading expert on the management of RNDs.
Prof. Molnar shared information on the new gene therapies for many RNDs that can change the clinical course for such patients.
Riadh Gouider
Prof. Riadh Gouider, professor of neurology and head of the department of neurology at Razi Hospital in Tunisia, reported his experience on Friedreich’s ataxia and similar phenotypes. The Tunisian School of Neurology had a great role in differentiation of Friedreich’s ataxia and other less common forms, such as vitamin E deficiency. The recent advances on treatment of Frederich’s ataxia were also presented.
Kailash Bhatia
Next, rare causes of genetic extrapyramidal diseases were extensively described with case reports by Prof. Kailash Bhatia, a professor of clinical neurology in the Sobell Department of Movement Neuroscience at the University College London Queen Square Institute of Neurology, and an honorary consultant neurologist at the affiliated National Hospital for Neurology and Neurosurgery in London, U.K. Prof. Bathia is president-elect of the European Academy of Neurology.
Eva Feldman
A final lecture on how to improve diagnosis and therapies for RNDs in the world was presented by Prof. Eva Feldman, an American physician-scientist known for her work in the field of neurodegenerative diseases. She serves as the James W. Albers Distinguished University Professor at the University of Michigan and the Russell N. DeJong Professor of Neurology, professor of neurosurgery, and director of the NeuroNetwork for Emerging Therapies and ALS Center of Excellence at Michigan Medicine. Her presentation offered several recommendations for changing attitudes on orphan diseases.
Digital Technologies Workshop
The second activity organized by the Subspecialty Group on RNDs in Seoul was a focused workshop, “How Digital Technologies Are Improving Rare Neurologic Diseases Management.” Emerging digital technologies are beginning to transform medicine and health care and could also improve the diagnosis and care of RNDs.
This workshop reviewed the possible use of these technologies in improving the knowledge of rare diseases. Additionally, there was a presentation of the consequent improvement of diagnostic skills through the use of an artificial intelligence (AI) electronic-based approach for identifying RNDs. This included several algorithms that have been used to recognize many neurodegenerative disorders, from genetic to neuroimaging to clinical big data collections.
Leveraging digitalization in health care — including electronic health records, telemedicine, and wearable devices — offers unprecedented opportunities for data collection and analysis. Big data analytics techniques enable the identification of patterns and biomarkers from large datasets, while AI and machine learning algorithms facilitate diagnosis, prediction, and personalized treatment strategies. Integrating drug development into this paradigm offers promising avenues for therapeutic innovation. By leveraging large-scale data analysis, AI-driven drug discovery platforms can accelerate the identification of potential drug targets and therapeutic compounds.
The session also brought attention to the problems of using these technologies in several areas of the world and to potential ethical issues.
Smail Daoudi
Speakers in the workshop were Profs. Federico and Molnar, who also presented in the teaching course, and Prof. Smail Daoudi, head of the neurology department at Nedir Mohammed Teaching Hospital in Tizi Ouzou, Algeria.
Prof. Daoudi described the situation in Africa and the necessity to have links with other more organized countries. Notably, this will be the focus of upcoming proposals of the Subspecialty Group on RNDs, which is establishing a partnership with the African Academy of Neurology (AFAN) to enhance the education of African neurologists on the diagnosis and care of RNDs.
Finally, we are preparing a review on the content of the main presentations related to RNDs to submit, on behalf of the Subspecialty Group on RNDs, to the Journal of Neurological Sciences. Our goal is to further stimulate the knowledge on these interesting areas of neurology, which we consider a touchstone for neurosciences and for general neurology. •
