Category: Ataxia
Objective: To create a comprehensive global resource integrating epidemiological, phenotypic, and diagnostic data on genetic ataxias through an online platform.
Background: Genetic ataxias exhibit variable regional differences in their occurrence and frequency, influenced by factors such as migration, population genetics, consanguinity, and founder effects. Despite increasing recognition of these disorders, epidemiological data remains limited, especially outside of North America and Europe. A thorough understanding of the global epidemiology of genetic ataxias, detailed phenotypic characterization, and appropriate diagnostic testing are crucial for optimizing diagnostic strategies.
Method: We developed a centralized, comprehensive online database that collects, organizes, and presents global data on genetic ataxias. The data was obtained through a systematic PubMed search up to September 2024, including publications in English, Spanish, Portuguese, German, or other languages with an English abstract. The search terms included ‘ataxia,’ ‘spinocerebellar,’ ‘SCA,’ ‘prevalence,’ ‘incidence,’ ‘epidemiology,’ ‘name of country,’ and ‘genetic.’ Additionally, relevant publications found in reference lists were included. The inclusion criteria comprised publications providing patient data with genetically confirmed cerebellar ataxia, including case reports, case series, and population-based studies.
Results: The platform includes detailed epidemiological, clinical, and diagnostic information for 548 genetic ataxias across 122 countries. Filtering options and maps are provided. A phenotype-guided, tailored approach to sequential genetic testing is also available.
Conclusion: The MDSGene Global Genetic Ataxia Resource offers a data-driven, encyclopedic tool on genetic ataxias, accessible at https://www.mdsgene.org/ataxia.html. It is designed to support healthcare professionals and researchers around the globe by providing up-to-date and searchable information.
Figure. MDSGene Global Genetic Ataxia Resource
To cite this abstract in AMA style:
M. Rossi, H. Madoev, C. Stephen, C. Marras, K. Lohmann, B. vd Warrenburg, C. Klein. Global Genetic Ataxia Resource: An MDSGene Online Platform [abstract]. Mov Disord. 2025; 40 (suppl 1). https://www.mdsabstracts.org/abstract/global-genetic-ataxia-resource-an-mdsgene-online-platform/. Accessed October 5, 2025.« Back to 2025 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/global-genetic-ataxia-resource-an-mdsgene-online-platform/