Oculomotor and Vestibular Findings in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

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Abstract
Summary Electronystagmographic recordings were made of oculomotor and vestibular function in II patients with autósomat recessive spastic ataxia of Charlevoix-Saguenay. All had horizontal gaze nystagmus, marked impairment of smooth ocular pursuit and optokinetic nystagmus, and defective fixation suppression of caloric nystagmus. Many had saccadic dysmetria. but saccade velocity was probably unaffected. Abnormallies pointing to brainstem disturbance were sparse. The findings are thought to indicate mainly diffuse cerebellar disease, with particular involvement of vermis and vestibulo-cerebellum.

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