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.

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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
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article

Diagnostic approach to episodic ataxia types 1 and 2: a proposed algorithm for limited resource-settings

Claudio M. de Gusmão, Jonathan W. Mink, Laura Silveira‐Moriyama, Alex R. Paciorkowski et al.
Frontiers in Neurology
Genetic Neurodegenerative Diseases
article

Diagnostic approach to episodic ataxia types 1 and 2: a proposed algorithm for limited resource-settings

Claudio M. de Gusmão, Jonathan W. Mink, Laura Silveira‐Moriyama, Alex R. Paciorkowski, Tamara Pringsheim, Ana Carolina Coan, Carolina Silva Rauffus, Lucas H. M. R. Garcia, Bruno Assis Della Ripa
article en

Abstract

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.

Frontiers in NeurologyVol. 17
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)
Peace, Justice and strong institutions
Openalex Percentile: Top 19%
Genetic Neurodegenerative Diseases
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Diagnostic approach to episodic ataxia types 1 and 2: a proposed algorithm for limited resource-settings — Claudio M. de Gusmão, Jonathan W. Mink, et al. · Frontiers in Neurology (2026) | TGRS Research Map | TGRS