ArticleClinical neurophysiology practice2022
Myoclonus generators in sialidosis.
Article in Clinical neurophysiology practice, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 8 citations in OpenAlex.
- Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature.Epilepsia open · 2026Review
- Two cases of type I sialidosis and a literature review.Orphanet journal of rare diseases · 2024Review
- AAV-mediated gene therapy for sialidosis.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis - a case series study.Orphanet journal of rare diseases · 2024Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
Objective: Sialidosis is an inborn error of metabolism. There is evidence that the myoclonic movements observed in this disorder have a cortical origin, but this mechanism does not fully explain the bilaterally synchronous myoclonus activity frequently observed in many patients. We present evidence of a subcortical basis for synchronous myoclonic phenomena. Methods: Electromyographic investigations were undertaken in two molecularly and biochemically confirmed patients with sialidosis type-1. Results: The EMG recordings showed clear episodes of bilaterally synchronous myoclonic activity in contralateral homologous muscles. We also observed a high muscular-muscular coherence with near-zero time-lag between these muscles. Conclusion: The absence of coherence phase lag between the right-and-left homologous muscles during synchronous events indicates that a unilateral cortical source cannot fully explain the myoclonic activity. There must exist a subcortical mechanism for bilateral synchronization accounting for this phenomenon. Significance: Understanding this mechanism may illuminate cortical-subcortical relationships in myoclonus.
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Registered trials
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