Wilson disease differential diagnosis
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The topology of the motor execution network is disrupted in patients with Wilson’s disease (WD), according to a recent study published in Frontiers in Neurology. The study focused on the motor execution network considering the close relationship between WD and motor impairments.

The study applied the graph theory to resting-state functional magnetic resonance imaging (fMRI) data intending to identify group differences in the topological properties of exercise executive networks in patients with WD and healthy controls. The study enrolled 38 right-handed individuals, consisting of 23 patients with WD and 15 healthy controls. 

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Study results suggested no significant intergroup differences in the global topological organization of the motor execution network between the two groups. Moreover, the nodal degree at the node level was higher in WD patients in the cerebellum, while at the edge level, a cerebello-thalamo-striatocortical circuit with changed functional connectivity strength in the patients with WD was observed. 

The strength of functional connectivity between the cerebellum and thalamus was reportedly increased, which is a compensatory mechanism for WD dyskinesia. On the other hand, the cortico-thalamic, cortico-striatal, and cortico-cerebellar connections reported a decrease in the functional connectivity strength, suggesting possible damage between the various levels of the nuclei that control the movement.

 “Overall, we used resting-state fMRI to study WD motor execution network configurations,” the authors wrote. “We found that WD patients have topologically dysfunctional motor executive networks, increased node degrees in the cerebellum, and altered functional connectivity strengths of the cerebellum-thalamo-striatalcortical circuit,” the authors highlighted.

Wilson’s disease is a rare autosomal recessive metabolic disease commonly found in adolescents and primarily characterized by liver damage and movement disorders. A prior study has reported that the severity of cerebral atrophy is strongly related to the neurological impairment of WD patients by measuring the brain volume of WD patients. Almost all patients with neurological WD exhibited brain MRI changes. Graph theory has been proposed as a powerful method for studying the complexity of brain networks, where the nodes represent anatomically defined brain areas while edges represent the functional or structural connections between pairs of nodes.

The research team noted a few limitations in the study, including small sample size, no assessment of the motor function of the participants because of the lack of relevant information, focus only on the internal network connectivity of the motor network, and selection of patients with decreased head shaking only which may affect the final results.

It may be possible to develop biomarkers for early diagnosis of WD, therapeutic targets, and biomarkers to help predict the pathophysiology of motor impairments in WD from these findings,” the authors concluded.


Zhu L, Yin H, Wang Y, et al. Disrupted topological organization of the motor execution network in Wilson’s diseaseFront Neurol. Published online November 21, 2022. doi: 10.3389/fneur.2022.1029669