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

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 cherryred spots. However, phenotypic variability exists. Here, we present detailed clinical and video description of three patients with this rare condition. We also provide an indepth 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.

Unveiling the Impact of Endogenous Sialidases on Human Non-Infectious Disease Pathogenesis

“…Type I sialidosis, also referred to as cherry-red spot myoclonus syndrome, is a milder variant of the condition that tends to manifest later in life. Common indications of type I sialidosis comprise gradual vision impairment, bilateral cherry-red spots, and myoclonus, typically emerging during adolescence (Lv et al, 2020;Cao et al, 2021;Riboldi et al, 2021).…”