The effect of gender on brain MRI pathology in Wilson’s disease

Gender influence on the clinical manifestations of Wilson’s Disease (WD) has been suggested; however, brain MRI pathology based on sexual dimorphism in WD has not yet been examined. The aim of this study was to analyse the effect of gender on brain MRI pathology according to the predominant form of WD. We retrospectively analysed the brain MR images of 204 newly diagnosed and untreated WD patients. The predominant form of the disease was neuropsychiatric (n = 105), hepatic (n = 67) or presymptomatic (n = 32). Overall, neuroimaging pathologies were found in 64.2 % WD patients. The clinical form analysis revealed significant gender-related differences. In the neuropsychiatric form, men presented with cerebellar atrophy and cortical brain atrophy more often than women (25/58 vs. 11/47; p < 0.05) and (23/58 vs. 12/47; p = 0.09), respectively. In contrast, women tended to present with globus pallidus lesions more often than men (25/47 vs. 20/58; p = 0.054). There were no gender differences observed in the hepatic form, but cortical brain atrophy presented more often in men than women (3/12 vs. 0/20; p < 0.05) in the presymptomatic form. According to our findings, there is a gender-dependent brain vulnerability to copper toxicity. We speculate that these differences are potentially related to an oestrogen protective effect and are due to differences in gender-related clinical forms.