Looking "Cherry Red Spot Myoclonus" in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1

Giulietta M. Riboldi , John Martone, John-Ross Rizzo, Todd E. Hudson, Janet C. Rucker, Steven J. Frucht

    Research output: Contribution to journalArticlepeer-review

    Abstract

    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 abnormalities, as an additional tool to investigate pathophysiological mechanisms and to facilitate diagnosis. In our patients, despite phenotypic differences, eye movement deficits largely localized to the cerebellum.
    Original languageEnglish (US)
    Article number53
    JournalTremor and other hyperkinetic movements (New York, N.Y.)
    Volume11
    Issue number1
    DOIs
    StatePublished - 2021

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