ArticleOrphanet journal of rare diseases2024
Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis - a case series study.
Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Machine learning-based skin nerve morphometry for diabetic neuropathy: diagnostic and clinical implications.Brain communications · 2026Article
- Beyond Seizures: A Comprehensive Review of Giant Somatosensory Evoked Potentials.Journal of clinical medicine · 2025Review
- Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.Annals of clinical and translational neurology · 2024Article
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTo investigate the peripheral nervous system involvement in
methodsThe clinical presentation of patients with genetically confirmed sialidosis was recorded. Neurophysiological studies, including nerve conduction studies (NCSs), F-wave studies, and needle electromyography (EMG), were performed on these patients.
resultsSix patients (M/F: 2:4) were recruited. In addition to the classical presentation, intermittent painful paresthesia was noted in four patients, and three of whom reported it as the earliest symptom. In the NCSs, one patient had reduced compound muscle action potential amplitudes in the right ulnar nerve, while another patient had prolonged distal motor latency in the bilateral tibial and peroneal nerves. Prolonged F-wave latency (83.3%), repeater F-waves (50%), and neurogenic polyphasic waves in EMG (in 2 out of 3 examined patients) were also noted. Interestingly, a very late response was noted in the F-wave study of all patients, probably indicating lesions involving the proximal peripheral nerve or spinal cord.
conclusionIn addition to the central nervous system, the peripheral nervous system is also involved in sialidosis, with corresponding clinical symptoms. Further study on these phenomena is indicated.
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