Article
Retinal and pontine striations: neurodiagnostic signs of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society - 1 Dec 2014
Leavitt Jacqueline A, Singer Wolfgang, Brown William L, Pulido Jose S, Brodsky Michael C
Abstract excerpt
A 39-year-old man with long-standing ataxia, spasticity, dysarthria, and peripheral neuropathy was found to have diffuse thickening of the retinal nerve fiber layer in both eyes, as manifested by prominent retinal striations and confirmed by optical coherence tomography. Magnetic resonance imaging showed severe atrophy of the superior cerebellar vermis with linear "footprint" hypointensities in the pons with...
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