Abstract
Both abnormalities of resting-state cerebral blood flow (CBF) and functional connectivity in Wilson’s disease (WD) have been identified by several studies. Whether the coupling of CBF and functional connectivity is imbalanced in WD remains largely unknown. To assess this possibility, 27 patients with WD and 27 sex- and age-matched healthy controls were recruited to acquire functional MRI and arterial spin labeling imaging data. Functional connectivity strength (FCS) and CBF were calculated based on standard gray mask. Compared to healthy controls, the CBF–FCS correlations of patients with WD were significantly decreased in the basal ganglia and the cerebellum and slightly increased in the prefrontal cortex and thalamus. In contrast, decreased CBF of patients with WD occurred predominately in subcortical and cognitive- and emotion-related brain regions, including the basal ganglia, thalamus, insular, and inferior prefrontal cortex, whereas increased CBF occurred primarily in the temporal cortex. The FCS decrease in WD patients was predominately in the basal ganglia and thalamus, and the increase was primarily in the prefrontal cortex. These findings suggest that aberrant neurovascular coupling in the brain may be a possible neuropathological mechanism underlying WD.
Highlights
Wilson’s disease (WD) is an inherited disorder of copper metabolism
Higher cerebral blood flow (CBF) was primarily distributed among the posterior cingulate cortex, precuneus, prefrontal cortex, lateral temporal cortex, and default mode network (DMN)
Higher Functional connectivity strength (FCS) was primarily observed in the visual cortex, prefrontal cortex, posterior cingulate cortex, and DMN
Summary
Wilson’s disease (WD) is an inherited disorder of copper metabolism. The symptoms were first identified by Dr Samuel Alexander Kinnier Wilson in 1912 (Wilson, 1912). The physical burden of the disease falls on the liver and the brain. Copper deposition in the brain affected by WD occurs primarily in the basal ganglia. In early stages of the disease, this results in neurological or psychiatric symptoms, such as mild cognitive deterioration, whereas late stages are characterized by dysarthria (de Bie et al, 2007), abnormal gait, risus sardonicus, dystonia, rigidity, and dyskinesia (Machado et al, 2006; Litwin et al, 2016). The neuropathological characteristics of WD are neuronal loss and atrophy in the bilateral basal ganglia, brainstem, cerebellum, and cerebral cortex (Page et al, 2004)
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