Teaching Video NeuroImage: Clues in Myoclonus Evaluation: When to Consider Sialidosis. (16th November 2021)

• Record Type: Journal Article
• Authors: Vélez Gómez, Beatriz; Jesús, Silvia; Macias-Garcia, Daniel; Lechon, Beatriz; Mir, Pablo
• Is Part Of: Neurology. Volume 97:Number 20(2021)
• Page Start: e2052
• Page End: e2053
• Publication Date: 2021-11-16
• Subjects: Neurology -- Periodicals; Neurology -- Periodicals; Neurologie -- Périodiques; 616.8
• DOI: 10.1212/WNL.0000000000012464
• Languages: English
• ISSNs: 0028-3878

Abstract

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.