Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo)

Audiol Neurootol. 1997 Nov-Dec;2(6):373-83. doi: 10.1159/000259262.

Abstract

Episodic ataxia (EA) is a rare, disabling condition of autosomal dominant inheritance, but it is not a distinct clinical entity. Synonyms are familial periodic ataxia or hereditary paroxysmal cerebellar ataxia. Family members have a similar clinical syndrome; however, the syndrome varies considerably from family to family. At least two groups of disorders have been separated clinically: (1) episodic ataxia type 1 (EA-1), which manifests without vertigo and is associated with 'interictal' myokymia, and (2) episodic ataxia type 2 (EA-2), which often manifests with vertigo and is associated with 'interictal' nystagmus. EA-1 and EA-2 have been identified as channelopathies. EA-1 is due to different heterozygous missense point mutations in a voltage-gated (delayed rectifier) potassium channel gene (KCNA1/Kv1.1) on chromosome 12p13, whereas EA-2 is caused by mutations of the cerebral P/Q-type calcium channel alpha 1 subunit gene CACNL1A4 localized on chromosome 19p, which is highly expressed in the cerebellum. The diagnosis of EA-1 and EA-2 is important, since they can be easily treated and are often mislabeled. As effective as acetazolamide is in preventing attacks, prospective studies still have to prove whether it can prevent progressive ataxia in EA-2 or even improve chronic cerebellar deficits.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Acetazolamide / therapeutic use
  • Adult
  • Calcium Channels / genetics
  • Cerebellar Ataxia / complications*
  • Cerebellar Ataxia / drug therapy
  • Cerebellar Ataxia / genetics*
  • Chromosome Aberrations
  • Chromosome Disorders
  • Chromosomes, Human, Pair 12 / genetics
  • Chromosomes, Human, Pair 19 / genetics
  • Diuretics / therapeutic use
  • Humans
  • Ion Channels / genetics
  • Male
  • Nystagmus, Pathologic / complications
  • Point Mutation
  • Potassium Channels / genetics
  • Vertigo / complications*
  • Vertigo / drug therapy

Substances

  • Calcium Channels
  • Diuretics
  • Ion Channels
  • Potassium Channels
  • Acetazolamide