ArticleJournal of clinical neurology (Seoul, Korea)2024
Intellectual Disability in Episodic Ataxia Type 2: Beyond Paroxysmal Vertigo and Ataxia.
Article in Journal of clinical neurology (Seoul, Korea), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed.
- Neural Correlates of Intellectual Dysfunction in Episodic Ataxia Type 2.Journal of clinical neurology (Seoul, Korea) · 2026Article
- Episodic Ataxia Type 2 Presenting with Fluctuating Weakness in a Child with a De Novo CACNA1A Variant.Children (Basel, Switzerland) · 2026Article
- Intellectual disability and structural defects of the CaV2.1 channel in episodic ataxia type 2: correlation using an AI prediction model.Journal of neurology · 2026Article
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7 authors.
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Abstract
background and purposeEpisodic ataxia type 2 (EA2) is characterized by recurrent vertigo and ataxia due to mutations in
methodsDuring 2019-2023, 13 patients (6 males, age range=10-52 years, median age=29 years) with a genetically confirmed diagnosis of EA2 had their intellectual function evaluated using the Korean versions of the Wechsler Intelligence Scales (version IV) for adults or children in 3 referral-based university hospitals in South Korea.
resultsThe full-scale intelligence quotients (FSIQs) among the 13 patients were below the average (90-109) in 11, low average (80-89) in 5 (38.5%), borderline (70-79) in 1 (7.7%), and indicated intellectual disability (≤69) in 5 (38.5%). These patterns of cognitive impairments were observed in all four of the following subtests: verbal comprehension, perceptual reasoning, working memory, and processing speed. The FSIQ was not correlated with the ages at onset for vertigo and ataxia (Pearson correlation:
conclusionsPatients with EA2 may have hidden intellectual disabilities even without a history of epilepsy or administration of antiepileptic drugs, and should be considered for genetic counseling and therapeutic interventions. Given the availability of medication to control episodic vertigo and ataxia, early diagnosis and management are important in preventing irreversible brain dysfunction in EA2.
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