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Ataxia
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Episodic Ataxia Type 1 (EA-1)

Inheritance
Autosomal dominant

Molecular genetics and pathogenesis
EA-1 is due to loss-of-function of a protein that controls electrical activity in brain cells.

Clinical manifestations
The episodic ataxias are, as their name indicates, episodic rather than progressive. The ataxic spells are triggered by startle, fever, heat, or physical or emotional stress.

The ataxic spells of EA-1 are very brief, lasting seconds to minutes, and may recur frequently through the day. Myokymia (rippling movements of muscle) is present between ataxic episodes.

References
OMIM
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160120

Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW; CINCH investigators. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain. 2007 Oct;130(Pt 10):2484-93.
PMID: 17575281