Clinical evaluation of eye movements in spinocerebellar ataxias: A prospective multicenter study

M. Moscovich, Michael S. Okun, Chris Favilla, Karla P. Figueroa, Stefan M. Pulst, Susan Perlman, George Wilmot, Christopher Gomez, Jeremy Schmahmann, Henry Paulson, Vikram Shakkottai, Sarah Ying, Theresa Zesiewicz, S. H. Kuo, P. Mazzoni, Khalaf Bushara, Guangbin Xia, Tetsuo Ashizawa, S. H. Subramony

Research output: Contribution to journalArticle

Abstract

Background: Ocular motor abnormalities reflect the varied neuropathology of spinocerebellar ataxias (SCAs) and may serve to clinically distinguish the different SCAs. We analyzed the various eye movement abnormalities detected prospectively at the baseline visit during a large multicenter natural history study of SCAs 1, 2, 3, and 6. Methods: The data were prospectively collected from 12 centers in the United States in patients with SCAs 1, 2, 3, and 6, as part of the Clinical Research Consortium for Spinocerebellar Ataxias (NIH-CRC-SCA). Patient characteristics, ataxia rating scales, the Unified Huntington Disease Rating Scale functional examination, and clinical staging were used. Eye movement abnormalities including nystagmus, disorders of saccades and pursuit, and ophthalmoparesis were recorded, and factors influencing their occurrence were examined. Results: A total of 301 patients participated in this study, including 52 patients with SCA 1, 64 with SCA 2, 117 with SCA 3, and 68 with SCA 6. Although no specific ocular motor abnormality was pathognomonic to any SCA, significant differences were noted in their occurrence among different disorders. SCA 6 was characterized by frequent occurrence of nystagmus and abnormal pursuit and rarity of slow saccades and ophthalmoparesis and SCA 2 by the frequent occurrence of slow saccades and infrequent nystagmus and dysmetric saccades. SCA 1 and SCA 3 subjects had a more even distribution of eye movement abnormalities. Conclusions: Prospective data from a large cohort of patients with SCAs 1, 2, 3, and 6 provide statistical validation that the SCAs exhibit distinct eye movement abnormalities that are useful in identifying the genotypes. Many of the abnormalities correlate with greater disease severity measures.

Original languageEnglish (US)
Pages (from-to)16-21
Number of pages6
JournalJournal of Neuro-Ophthalmology
Volume35
Issue number1
DOIs
StatePublished - Mar 28 2015

ASJC Scopus subject areas

  • Ophthalmology
  • Clinical Neurology

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