Abstract
BackgroundWilson’s disease (WD) is an autosomal recessive disease of impaired copper metabolism. Previous study demonstrated that WD with corpus callosum abnormalities (WD-CCA) was limited to the posterior part (splenium). This study aimed to compare clinical features between WD-CCA and WD without corpus callosum abnormalities (WD-no-CCA).MethodsForty-one WD patients who had markedly neurological dysfunctions were included in this study. We retrospectively reviewed clinical, biochemical characteristics and MRI findings in the 41 WD patients. All patients were assessed using the Unified Wilson’s Disease Rating Scale.ResultsNine patients had corpus callosum abnormalities, 4 of 9 patients had abnormal signal in the genu and splenium, 5 of 9 patients had abnormal signal only in the splenium. WD-CCA had longer course (9.9 ± 4.0 years vs. 3.4 ± 3.6 years, p<0.01), more severe neurological dysfunctions (37.6 vs. 65.9, p<0.01) and higher psychiatric symptoms scores (11.2 vs. 22.5, p<0.01) than WD-no-CCA. The MRI findings indicated that WD-CCA had higher ratio than WD-no-CCA in globus pallidus (88.9% vs. 43.8%, p = 0.024) and thalamus (100% vs. 59.4%, p = 0.038). The index of liver function and copper metabolism had no significant in WD-CCA and WD-no-CCA patients.ConclusionOur findings indicate Wilson’s disease can involve the posterior as well as the anterior part of CC and patients with CC involvement had more extensive brain lesions, more severe neurological dysfunctions and psychiatric symptoms.
Highlights
Wilson’s disease (WD) is an autosomal recessive disease of impaired copper metabolism
During the past 2 years, we have collected nine Chinese WD patients presenting with corpus callosum abnormalities (WD-CCA) at the Wilson’s Disease Centre, Hospital Affiliated with the Institute of Neurology, Anhui University of Chinese Traditional Medicine
Our results indicate that WD-CCA is not limited to the posterior and that WD-CCA exhibited a longer course of disease, more severe neurological dysfunction, and more extensive brain lesions compared to WD-no-CCA patients
Summary
Wilson’s disease (WD) is an autosomal recessive disease of impaired copper metabolism. Previous study demonstrated that WD with corpus callosum abnormalities (WD-CCA) was limited to the posterior part (splenium). This study aimed to compare clinical features between WD-CCA and WD without corpus callosum abnormalities (WD-no-CCA). WD is an autosomal recessive disease of impaired copper metabolism [1].The causative gene of WD is ATP7B, which encodes a copper-transporting ATPase in the liver and functions as a copper-dependent P-type ATPase [2]. Abnormal corpus callosum (CC) in WD have rarely been addressed and limited to the posterior part (splenium) in previous studies [6]. During the past 2 years, we have collected nine Chinese WD patients presenting with corpus callosum abnormalities (WD-CCA) at the Wilson’s Disease Centre, Hospital Affiliated with the Institute of Neurology, Anhui University of Chinese Traditional Medicine.
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