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

Abstract

SummaryElectronystagmographic 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.

Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix‐Saguenay in northeastern Quebec

“…The clinical features include an unsteadiness at gait initiation, spastic ataxia of the 4 limbs, slurred and dysrhythmic speech, and a discrete to severe distal amyotrophy. Ocular signs consist in a nystagmus, a defect of conjugate pursuit ocular movements and an increased visibility of myelinated retinal nerve fibers at fundoscopy [Bouchard et al, 1978;Bouchard, 19911. Over the years, several works have reported clinical, electrophysiological, pathological, and biochemical studies [J.-P. Bouchard et al, 1978; R.W., Dionne et al, 1979;Langelier et al, 1979;Peyronnard et al, 1979;Richards et al, 1980;Delean et al, 1989;Plioplys et al, 1989;Bouchard, 19911. However, very little is known on the epidemiology of ARSACS.…”

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Clinical, Radiological and Epidemiological Aspects

“…Electronystagmography showed horizontal gaze nystagmus in all Quebec patients with marked impairment of smooth ocular pursuit and optokinetic nystagmus, and defective fixation suppression of caloric nystagmus (Dionne et al, 1979). Recently, both the masseter and blink reflexes were found to be abnormal in two ARSACS patients (Garcia et al, 2008), whereas the masseter reflex was preserved but a bilateral delay of the late response of the blink reflex was observed in Friedreich' ataxia patients.…”

Epidemiologie genetique de l ataxie spastique de Charlevoix-Saguenay dans le nord-est du Quebec

“…Au niveau ophtalmique, il y a présence de nystagmus lors de la poursuite conjuguée des mouvements oculaires (Dionne et al 1979). Il y a présence de striations au niveau de la rétine centrale, provenant d'une visibilité accrue des fibres nerveuses réti-niennes (Bouchard et al 1978).…”