Article
Looking "Cherry Red Spot Myoclonus" in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1.
Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2021
Riboldi Giulietta M, Martone John, Rizzo John-Ross, Hudson Todd E, Rucker Janet C, Frucht Steven J
Abstract excerpt
Sialidosis type 1 is a rare lysosomal storage disorder caused by mutations of the neuraminidase gene. Specific features suggesting this condition include myoclonus, ataxia and macular cherry-red spots. However, phenotypic variability exists. Here, we present detailed clinical and video description of three patients with this rare condition. We also provide an in-depth characterization of eye movement...
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