Prevalence and features of non-motor symptoms in Wilson’s disease

Palmieri, Gianluigi Rosario; Michele, G. De; Matarazzo, Margherita; Dato, Fabiola Di; Perillo, Sandra; Iacovo, Diletta Carmen Paola Dello; Cuomo, Nunzia; Pane, Chiara; Russo, Cinzia Valeria; Iorio, Raffaele; Michele, Giuseppe De; Rosa, Anna De

doi:10.1016/j.parkreldis.2022.01.016

Cited by 9 publications

(5 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The insomnia prevalence and ESS in neuropsychiatric subtypes was higher than in hepatic subtypes or asymptomatic forms [19,20]. There were no significant correlations between disease duration and ESS[17], but the severity of insomnia was correlated with the severity of depressive symptoms [20].…”

Section: Tremormentioning

confidence: 88%

“…Studies have shown that among persons with Wilson's disease, 34.5% experienced insomnia, with significantly increased PSQI scores compared to controls [18,19]. Additionally, poor sleep quality and EDS, defined by higher ESS scores, were prevalent at 19.2% with significantly higher scores than controls [17–19]. The insomnia prevalence and ESS in neuropsychiatric subtypes was higher than in hepatic subtypes or asymptomatic forms [19,20].…”

Section: Tremormentioning

confidence: 99%

“…Cardinal symptoms include hepatic impairment in its preclinical or asymptomatic form, as well as neuropsychiatric impairments. Neuropsychiatric symptoms manifest as various types of abnormal movements including parkinsonism, tremor, dystonia, chorea, tics, ataxia or myoclonus, and psychiatric involvements [17]. A previous systematic review reported that 54.1% of Wilson's disease patients experienced sleep disorders, exhibiting up to 7.65-fold higher odds compared to controls [18].…”

Section: Wilson's Diseasementioning

confidence: 99%

See 2 more Smart Citations

Sleep and circadian rhythm dysfunctions in movement disorders beyond Parkinson's disease and atypical parkinsonisms

Sringean

2024

Current Opinion in Neurology

View full text Add to dashboard Cite

Purpose of review This review aimed to comprehensively outline sleep and circadian rhythm abnormalities in hyperkinetic movement disorders beyond Parkinson's disease and atypical parkinsonisms, including tremor, dystonia, choreiform movements, tics, and ataxia disorders. Recent findings Insomnia, poor sleep quality, and excessive daytime sleepiness (EDS) are commonly reported in essential tremor, Wilson's disease, tics or Tourette's syndrome, and spinocerebellar ataxia (SCA). REM sleep behavior disorder (RBD) have been observed in Wilson's disease and SCA. A combination of REM and non-REM parasomnias, along with nocturnal stridor with the initiation of sleep and re-entering after awakening, are characterized by undifferentiated Non-REM and poorly structured N2 in anti-IgLON5 disease. Restless legs syndrome (RLS) has been reported commonly in SCAs. Sleep-related dyskinesia has been reported in ADCY5-related disease and GNAO1-related movement disorder. Summary Sleep problems can manifest as a result of movement disorders, either through direct motor disturbances or secondary nonmotor symptoms. Medication effects must be considered, as certain medications for movement disorders can exacerbate or alleviate sleep disturbances. Distinguishing sleep problems in some diseases might involve pathognomonic symptoms and signs, aiding in the diagnosis of movement disorders.

show abstract

Section: Tremormentioning

confidence: 88%

Section: Tremormentioning

confidence: 99%

Section: Wilson's Diseasementioning

confidence: 99%

See 1 more Smart Citation

Sleep and circadian rhythm dysfunctions in movement disorders beyond Parkinson's disease and atypical parkinsonisms

Sringean

2024

Current Opinion in Neurology

View full text Add to dashboard Cite

show abstract

“…The dysregulation of the copper homeostasis in the CNS is associated with neurodegenerative disorders such as Wilson's disease (WD) and Alzheimer's disease (AD) (Maung et al 2021;An et al 2022;Hureau et al 2023). WD is an archetype disease for copper metabolism disorders, with some patients presenting signi cant cognitive dysfunction that diminishes their health-related quality of life (Rodriguez-Castro et al 2015; Palmieri et al 2022). Moreover, copper brain deposition exacerbates the secondary degeneration of cortical neurons induced by nerve injury (Banci et al 2010).…”

Section: Introductionmentioning

confidence: 99%

PKR downregulation prevents copper-induced synaptic dysfunction in a murine model of Wilson’s disease

Xu,

Liu,

Gao

et al. 2023

Preprint

View full text Add to dashboard Cite

Synaptic efficacy is critical for memory formation and consolidation. Accumulating evidence suggest that synapses are impaired during Wilson’s disease (WD), contributing to neuronal dysfunction and cognitive decline. However, the mechanisms mediating the inhibitory synaptic dysfunction in WD are not fully understood. We investigated the effects of the PKR/eIF2α pathway on the synaptic structure and function of neurons in WD using a murine model (TX mice). During open-field tests for the mice, we observed significant decreases in immobility time and time spent in the center, accompanied by an increase in escape latency in the WD model animals, suggesting that chronic copper deposition leads to cognitive dysfunction. We also found a decrease in the expression of synapse-associated proteins (Synapsin1, Synaptophysin, PSD93, PSD95, and VAMP2) as well as abnormal neurotransmitter levels (including glutamate and GABA), indicating the presence of synaptic dysfunction in the TX mice. Inhibiting PKR via C16 prevented these changes, suggesting that dysfunctional cognition is associated with the PKR/eIF2α pathway. We also observed changes in synapses, vesicles, dendritic spine density, and dendritic length associated with the presence of cognitive dysfunction. Further investigation revealed that C16 treatment decreased the TUNEL-positive cell numbers in the hippocampus of TX mice, and prevented 8-OHdG-induced synaptic dysfunction in the WD model mice. Our results suggest that PKR downregulation prevents copper-induced synaptic dysfunction in the murine WD model. Therefore, targeting PKR pharmacologically may be a potential therapeutic strategy for treating the copper-induced neuropathology of patients with WD.

show abstract

“…Converging evidence indicates a definite association between Wilson's disease and motor impairments. A study of non-motor symptoms in WD demonstrated that movement disorders are the core neurological features of the disease ( 13 ). Additionally, a molecular genetics study of WD found that WD was caused by mutations in a large number of different genes, which made the molecular diagnosis complicated to achieve.…”

Section: Introductionmentioning

confidence: 99%

Disrupted topological organization of the motor execution network in Wilson's disease

et al. 2022

View full text Add to dashboard Cite

ObjectiveThere are a number of symptoms associated with Wilson's disease (WD), including motor function damage. The neuropathological mechanisms underlying motor impairments in WD are, however, little understood. In this study, we explored changes in the motor execution network topology in WD.MethodsWe conducted resting-state functional magnetic resonance imaging (fMRI) on 38 right-handed individuals, including 23 WD patients and 15 healthy controls of the same age. Based on graph theory, a motor execution network was constructed and analyzed. In this study, global, nodal, and edge topological properties of motor execution networks were compared.ResultsThe global topological organization of the motor execution network in the two groups did not differ significantly across groups. In the cerebellum, WD patients had a higher nodal degree. At the edge level, a cerebello-thalamo-striato-cortical circuit with altered functional connectivity strength in WD patients was observed. Specifically, the strength of the functional connections between the cerebellum and thalamus increased, whereas the cortical-thalamic, cortical-striatum and cortical-cerebellar connections exhibited a decrease in the strength of the functional connection.ConclusionThere is a disruption of the topology of the motor execution network in WD patients, which may be the potential basis for WD motor dysfunction and may provide important insights into neurobiological research related to WD motor dysfunction.

show abstract

Prevalence and features of non-motor symptoms in Wilson’s disease

Cited by 9 publications

References 16 publications

Sleep and circadian rhythm dysfunctions in movement disorders beyond Parkinson's disease and atypical parkinsonisms

Sleep and circadian rhythm dysfunctions in movement disorders beyond Parkinson's disease and atypical parkinsonisms

PKR downregulation prevents copper-induced synaptic dysfunction in a murine model of Wilson’s disease

Disrupted topological organization of the motor execution network in Wilson's disease

Contact Info

Product

Resources

About