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episodic ataxia type 2

MIM.108500

Tuesday 5 August 2008

Definition: Episodic ataxia type 2 is characterized by the onset in childhood or young adulthood of paroxysmal attacks of ataxia, dysarthria, vertigo, and nausea lasting hours or days, triggered by stress, exertion, caffeine, alcohol, a high carbohydrate meal, fever, or heat.

The frequency of the attacks can range from two per year to 3-4 per week. Interictally, some patients will develop gaze-evoked nystagmus, ataxia, and migraines.

Episodic ataxia type 2 is caused by a mutation of the sodium channel CACNA1 gene on chromosome 19 (i.e., this is an allelic disease, along with familial hemiplegic migraine and spinocerebellar atxia type 6). Acetazolamide was shown to decrease the frequency of attacks.

Some patients develop atrophy of the cerebellum, best seen on serial brain magnetic resonance imaging studies over time.

See also

- episodic ataxias
- channelopathies