ArticleFrontiers in neurology
Diagnostic approach to episodic ataxia types 1 and 2: a proposed algorithm for limited resource-settings.
Article in Frontiers in neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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9 authors.
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Abstract
Background: Episodic ataxias (EA) comprise a heterogeneous group of genetic conditions with spells of gait difficulty and imbalance, for which the main causes are EA1 ( Objectives: We sought to determine distinguishing clinical features between EA1 and EA2 and propose an algorithm based on our findings. Methods: Systematized literature review to identify individuals with confirmed pathogenic variants in Results: Attack duration with a cut-off of < 10 min had high sensitivity (75.3%) and specificity (94.0%) for EA1. Additional features with high specificity included symptoms during the attacks (e.g., headaches in EA2, 95.7%) and symptoms between attacks (e.g., myokymia in EA1 99.6%; nystagmus in EA2, 98.8%). Kinesigenic triggers were more frequently reported in EA1 (68.4% vs. 5.3%, 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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