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Autosomal dominant episodic ataxia: A heterogeneous syndrome
Author(s) -
Gancher Stephen T.,
Nutt John G.
Publication year - 1986
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.870010404
Subject(s) - choreoathetosis , ataxia , paroxysmal dyskinesia , neuromyotonia , nystagmus , medicine , cerebellar ataxia , psychology , pediatrics , neuroscience , audiology , dystonia , dyskinesia , parkinson's disease , disease , antibody , immunology
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 heterogenity of episodic ataxia as well as the variable expressivity within each kindred.