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[Hereditary episodic ataxia].

F Riant1, K Vahedi, E Tournier-Lasserve

  • 1Laboratoire de génétique, groupe hospitalier Lariboisière-Fernand-Widal, AP-HP, 2, rue Ambroise-Paré, 75010 Paris, France. florence.riant@lrb.aphp.fr

Revue Neurologique
|April 16, 2011
PubMed
Summary
This summary is machine-generated.

Episodic ataxias (EA) are a group of channelopathies. This review covers EA type 1 (EA1) and EA type 2 (EA2), caused by KCNA1 and CACNA1A gene mutations, respectively, and briefly mentions other rare EA types.

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Area of Science:

  • Neurology
  • Genetics
  • Channelopathies

Context:

  • Episodic ataxias (EA) encompass heterogeneous autosomal dominant channelopathies causing paroxysmal imbalance.
  • EA1 and EA2 are the most common forms, presenting distinct clinical features and genetic underpinnings.
  • Understanding EA subtypes is crucial for accurate diagnosis and management.

Purpose:

  • To summarize current knowledge on episodic ataxia type 1 and 2.
  • To briefly describe other identified types of episodic ataxia.
  • To highlight the genetic basis and diagnostic confirmation for EA1 and EA2.

Summary:

  • Episodic ataxia type 1 (EA1) involves brief ataxia/dysarthria episodes and interictal myokymia, linked to KCNA1 gene mutations (Kv1.1 channels).
  • Episodic ataxia type 2 (EA2) features longer ataxia/dysarthria/vertigo episodes, often with interictal nystagmus, caused by CACNA1A gene mutations (Cav1.1 channels).
  • Molecular analysis of KCNA1 and CACNA1A confirms EA1 and EA2 diagnoses, while other rare EA types (EA5, EA6) involve CACNB4 and SLC1A3 genes, respectively, with some familial cases remaining genetically unresolved.

Impact:

  • Provides a consolidated overview of EA types, aiding clinicians and researchers.
  • Emphasizes the importance of molecular diagnostics for EA1 and EA2.
  • Highlights the ongoing genetic heterogeneity in episodic ataxias, suggesting potential for new gene discoveries.