Diagnostic approach to episodic ataxia types 1 and 2: a proposed algorithm for limited resource-settings
Background: gene). While EA1 may respond to some antiepileptics and EA2 responds to acetazolamide, no guideline exists to inform decision-making in settings where genetic testing is unavailable. Objectives: We sought to determine distinguishing clinical features between EA1 and EA2 and propose an algorithm based on our findings. Methods: followed by statistical analysis to compose a management algorithm. Subsequently, the algorithm was tested in cases described within the last three years. Results: = 0.003). Testing our algorithm in a case cohort yielded a sensitivity of 87.5% in identifying EA2 cases. Conclusion: EA1 and EA2 patients represent clinically different populations. We propose a management algorithm based on features with highest diagnostic accuracy, which may inform decision-making in resource-limited settings.
Authors
- Claudio M. de Gusmão (ORCID: https://orcid.org/0000-0001-7171-1406)
- Jonathan W. Mink (ORCID: https://orcid.org/0000-0002-7867-3710)
- Laura Silveira‐Moriyama (ORCID: https://orcid.org/0000-0003-2184-626X)
- Alex R. Paciorkowski (ORCID: https://orcid.org/0000-0003-3570-0149)
- Tamara Pringsheim
- Ana Carolina Coan
- Carolina Silva Rauffus
- Lucas H. M. R. Garcia
- Bruno Assis Della Ripa
Institutions
- Allen Institute for Brain Science (US)
- University of Calgary (CA)
- Universidade de São Paulo (BR)
- Universidade Estadual de Campinas (UNICAMP) (BR)
- University of Rochester Medical Center (US)
- Mendelics (BR)
- Hospital Universitário da Universidade de São Paulo (BR)
- Hospital Sírio-Libanês (BR)
- Oldham Council (GB)
- Mass General Brigham (US)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2026-04-21
- DOI
- https://doi.org/10.3389/fneur.2026.1735246
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00