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 neura-minidase 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
Article number53
JournalTremor and Other Hyperkinetic Movements
Volume11
Issue number1
DOIs
StatePublished - 2021
Externally publishedYes

Keywords

  • Eye movements
  • Myoclonus
  • Sialidosis type 1
  • Sodium oxybate

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