PMID: 9533553Apr 9, 1998Paper

Episodic ataxia and channelopathies

Brain & Development
N Gordon

Abstract

Clinical details are given of different types of episodic ataxia: type 1, with myokymia, and attacks which usually last a few minutes, and may occur several times a day, and treatment with acetazolamide can reduce the number of attacks; type 2, with interictal nystagmus, and attacks which last for several hours to a day or more, and treatment with acetazolamide is very effective; paroxysmal choreoathetosis with episodic ataxia, with attacks lasting for about 20 min and occurring at varying intervals; and familial hemiplegic migraine, with transient hemiplegia presenting during the aura of a migraine headache, the symptoms improving on treatment with acetazolamide. Their inheritance is of dominant type; and the gene for type 1 is mapped to chromosome 12p near to a cluster of potassium channel genes, and that for type 2 and for familial hemiplegic migraine to chromosome 19p near to calcium channel genes. The differential diagnosis from other conditions with a periodic symptomatology is discussed, especially from a number of metabolic disorders. Treatment is effective for many of these, and the treatment of the episodic ataxias with acetazolamide can sometimes have a dramatic effect. The possible role of the channelopathies in the...Continue Reading

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Citations

Dec 10, 1999·Movement Disorders : Official Journal of the Movement Disorder Society·M W HayesJ G Morris
Jun 1, 2000·Movement Disorders : Official Journal of the Movement Disorder Society·M A Beran-KoehnJ E Ahlskog
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Oct 28, 2020·Biomedicines·Wojciech Koźmiński, Joanna Pera

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