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.
Rucker
Janet C
JC
Neurology Service, Veterans Affairs Medical Center, 10701 East Boulevard, Cleveland, OH 44106-1702, USA.
Jen
Joanna
J
Stahl
John S
JS
Natesan
Nandhitha
N
Baloh
Robert W
RW
Leigh
R John
RJ
D000328:Adult; D015220:Calcium Channels / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000235:genetics*; D003867:Depth Perception; D005403:Fixation, Ocular; D006801:Humans; D008297:Male; D009154:Mutation; D009886:Ophthalmoplegia / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D012438:Saccades / Q000502:physiology*; D014785:Vision, Ocular; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type