Abstract
A 53-year-old woman was presented for the evaluation of visual disturbances, generalized and multifocal myoclonus, and progressive ataxia that began at age 30 years (cf. Video 1). Bilateral cherry-red spots in the macula (figure) and a cortical origin in the EEG-EMG coregistration with back-averaging were observed. Reduced neuraminidase activity in fibroblasts and the homozygous mutation c.403G>A in the NEU1 gene confirmed the diagnosis of sialidosis type I.
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