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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Internuclear ophthalmoparesis in episodic ataxia type 2.

Two patients sharing a novel mutation of the CACNA1A gene for P/Q calcium channels showed significant slowing of adducting saccades compared with normal subjects or patients with cerebellar disease. Internuclear ophthalmoparesis (INO) was clinically evident in one. While these findings might be specific to this mutation, INO in our patients with episodic ataxia type 2 suggested involvement outside the cerebellum, either in the brain-stem internuclear pathway or at the neuromuscular junction.[1]


  1. Internuclear ophthalmoparesis in episodic ataxia type 2. Rucker, J.C., Jen, J., Stahl, J.S., Natesan, N., Baloh, R.W., Leigh, R.J. Ann. N. Y. Acad. Sci. (2005) [Pubmed]
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