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Episodic ataxias.

Joanna C Jen1, Jijun Wan2

  • 1Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, United States; Department of Neurobiology, David Geffen School of Medicine, University of California, Los Angeles, CA, United States.

Handbook of Clinical Neurology
|February 27, 2018
PubMed
Summary
This summary is machine-generated.

Familial episodic ataxias (EAs) are central nervous system channelopathies causing imbalance and incoordination. Mutations in ion channel and transporter genes linked to neuronal excitability underlie EA1, EA2, and EA6.

Keywords:
ataxiachannelopathyepilepsymigraine

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Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Familial episodic ataxias (EAs) are a group of inherited neurological disorders.
  • These conditions are characterized by recurrent episodes of ataxia (lack of muscle control) and imbalance.
  • They represent a significant challenge in understanding central nervous system (CNS) channelopathies.

Purpose of the Study:

  • To elucidate the genetic underpinnings of specific familial episodic ataxias.
  • To investigate the role of ion channel and transporter gene mutations in EA1, EA2, and EA6.
  • To understand how these genetic defects contribute to neuronal dysfunction and clinical symptoms.

Main Methods:

  • Genetic analysis of patients with familial episodic ataxias.
  • Identification and characterization of mutations in ion channel and transporter genes.
  • Correlation of genotype with clinical phenotypes (ataxia, incoordination, interictal features).

Main Results:

  • Mutations in specific ion channel- and transporter-encoding genes were identified as the cause of EA1, EA2, and EA6.
  • These genetic alterations directly impact neuronal excitability and neurotransmission.
  • The identified mutations provide a molecular basis for the observed clinical symptoms of episodic ataxia.

Conclusions:

  • Familial episodic ataxias (EAs) are prototypical channelopathies of the CNS.
  • Mutations in genes regulating neuronal excitability and neurotransmission are causative for EA1, EA2, and EA6.
  • Understanding these genetic defects is crucial for diagnosing and potentially treating these debilitating neurological conditions.