Abstract
To report the phenomenology of movement disorder (MD) in neurological Wilson disease (NWD), and correlate these with MRI, and biomarkers of oxidative stress, excitotoxicity, and inflammation. Eighty-two patients were included, and their phenomenology of MD was categorized. The severity of dystonia was assessed using the Burke-Fahn-Marsden score, and chorea, athetosis, myoclonus, and tremor on a 0–4 scale. The MRI changes were noted. Serum glutamate, cytokines, and oxidative stress markers were measured. Movement disorders were noted in 78/82 (95.1%) patients and included dystonia in 69 (84.1%), chorea in 31 (37.8%), tremor in 24 (29.3%), parkinsonism in 19 (23.2%), athetosis in 13 (15.9%), and myoclonus in 9 (11.0%) patients. Dystonia was more frequently observed in the patients with thalamic (76.8 vs 23.2%), globus pallidus (72.0 vs 28.0%), putamen (69.5 vs 30.5%), caudate (68.3 vs 31.7%) and brainstem (61.0 vs 39.0%) involvement, and tremor with cerebellar involvement (37.5 vs 5.2%). The median age of onset of neurological symptoms was 12 (5–50) years. WD patients had higher levels of malondialdehyde (MDA), glutamate, and cytokines (IL-6, IL-8, IL-10, and TNFα) and lower levels of glutathione and total antioxidant capacity (TAC) compared with the controls. Serum glutamate, IL-6, IL-8, and plasma MDA levels were increased with increasing neurological severity, while glutathione and TAC levels decreased. The severity of dystonia related to the number of MRI lesions. MD is the commonest neurological symptoms in WD. Oxidative stress, glutamate, and cytokine levels are increased in WD and correlate with neurological severity.
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Data Availability
The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.
Abbreviations
- WD:
-
Wilson disease
- NWD:
-
neurological Wilson disease
- Cu:
-
copper
- MD:
-
movement disorder
- BFM score:
-
Burke-Fahn-Marsden score
- MDA:
-
malondialdehyde
- TAC:
-
total antioxidant capacity
- XIAP:
-
X-link inhibitory apoptotic protein
- KF:
-
Keiser- Fleisher
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This work was funded by the intramural grant from the Sanjay Gandhi Post Graduate Medical Sciences, Lucknow, India (39:287).
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A child with neurological Wilson disease admitted with severe dystonia. He had mouth open oromandibular dystonia leading to dysarthria and dysphagia needing nasogastric feeding. His truncal and limb dystonia was so severe that he was screaming with pain. He was prescribed intravenous lorazepam to control his painful dystonic spells. (AVI 9632 kb)
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Kalita, J., Kumar, V., Misra, U.K. et al. Movement Disorder in Wilson Disease: Correlation with MRI and Biomarkers of Cell Injury. J Mol Neurosci 71, 338–346 (2021). https://doi.org/10.1007/s12031-020-01654-0
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DOI: https://doi.org/10.1007/s12031-020-01654-0