Ocular motility in genetically defined autosomal dominant cerebellar ataxia

Jacques S. Durig, Joanna C. Jen, Joseph L. Demer

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

PURPOSE: To describe ocular motility in patients having genetically characterized dominant cerebellar ataxia. DESIGN: Observational case series. METHOD: Nine ataxic adults having the following molecular genetic diagnoses underwent ophthalmic examination and ocular motility recordings: four with spinocerebellar ataxia type 6 (SCA-6), three with SCA-3, one with SCA-1, and one with episodic ataxia type 2 (EA-2). RESULTS: Versions were normal in eight patients. Most were orthotropic, but one with SCA-3 had exotropia at near. The near point of convergence was remote in five patients. Eight of nine patients had horizontal nystagmus evoked by lateral gaze. All patients with SCA-6 had downbeat nystagmus. Downbeat nystagmus was absent in SCA-1, SCA-3, and EA-2. Three patients with SCA-6 and one with EA-2 had symptomatic improvement when treated with acetazolamide. CONCLUSION: Patients with genetically defined dominant cerebellar ataxia generally had normal binocular alignment and versions and only mild vergence impairment. Downbeat nystagmus was strongly associated with the SCA-6 mutation, whose associated episodes of dizziness and imbalance may be relieved by acetazolamide.

Original languageEnglish
Pages (from-to)718-721
Number of pages4
JournalAmerican Journal of Ophthalmology
Volume133
Issue number5
DOIs
StatePublished - 2002
Externally publishedYes

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