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Abstract
The spinocerebellar ataxias, like all neurodegenerative diseases, lack objective disease- and stage-specific biomarkers. Based on reports of clinically evident optic disc atrophy or retinal disease in some ataxia patients, and the discovery that pre-symptomatic retinal thinning occurs in other neurologic diseases such as multiple sclerosis, we tested the hypothesis that subclinical neuronal or axonal loss in the retina could occur in the degenerative ataxias. Spectral domain optical coherence tomography was performed on 29 ataxia patients with genetically proven spinocerebellar ataxia (SCA) 1, 2, 3, or 6, or multisystem atrophy type C (MSA-C) and 27 age-matched normal subjects. Ataxia patients were assessed using the scale for assessment and rating of ataxia. Compared with normal control subjects, retinal nerve fibre layer (RNFL) thickness was reduced for patients with SCA2 and SCA3, and thickness in the macular region was reduced for all SCAs but SCA2.
ACKNOWLEDGEMENTS
This work was supported by NINDS (RC1NS068897), Fight Ataxia Research Foundation, and NEI (R01EY019651 D. Cao).
Declaration of interest: J. H. Pula, V. L. Towle, V. M. Staszak, D.-C. Cao, and J. T. Bernard report no conflicts of interest. C. M. Gomez has served on the Athena Diagnostics Speakers’ Bureau. The authors alone are responsible for the content and writing of the paper.
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