Autosomal dominant episodic ataxia: a heterogeneous syndrome.

S. T. Gancher, John Nutt

Research output: Contribution to journalArticle

85 Citations (Scopus)

Abstract

We describe six kindreds with autosomal dominant episodic ataxia, apparently representing three distinct syndromes. Four kindreds were characterized by episodic ataxia and response to acetazolamide, and in three, interictal nystagmus. One kindred was characterized by paroxysmal ataxia and in one member, paroxysmal choreoathetosis. The last kindred had brief attacks of ataxia and interictal neuromyotonia. The age of onset and severity of the disorder varied within each kindred. These kindreds illustrate the heterogeneity of episodic ataxia as well as the variable expressivity within each kindred.

Original languageEnglish (US)
Pages (from-to)239-253
Number of pages15
JournalMovement disorders : official journal of the Movement Disorder Society
Volume1
Issue number4
StatePublished - 1986

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Ataxia
Isaacs Syndrome
Acetazolamide
Age of Onset
Episodic Ataxia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Autosomal dominant episodic ataxia : a heterogeneous syndrome. / Gancher, S. T.; Nutt, John.

In: Movement disorders : official journal of the Movement Disorder Society, Vol. 1, No. 4, 1986, p. 239-253.

Research output: Contribution to journalArticle

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