Lorenzini foundation Centro studi Lorenzini foundation Centro studi


Wilson disease (WD) is an autosomal recessive disorder that results in copper accumulation in many human tissues (brain, liver, cornea) and secondary damages to affected organs. In the brain, pathological changes are mainly localised in the basal ganglia. Because gender influence on the clinical manifestations of WD has been suggested but there is a lack of studies investigating MRI gender differences in WD, the aim of this study was to examine retrospectively gender differences in 204 untreated WD patients using brain MRI. Of these patients, 105 were affected by the neuropsychiatric form of WD, 67 were in the hepatic group and 32 were affected by the presymptomatic form. Several gender differences were found. Neuropsychiatric men presented neurodegenerative signs more often than women, including cortical brain atrophy and cerebellar atrophy. These correlations were not observed in the hepatic form; however, cortical brain atrophy occurred more often in presymptomatic men. According to these findings, there seems to be a gender-dependent brain vulnerability to copper toxicity. The more frequent occurrence of brain cortical atrophy and cerebellar atrophy in WD men compared to women might be explained by gender-related differences in clinical presentation: indeed, there is a higher frequency of neuropsychiatric signs observed in men and of hepatic signs in women. Besides, atrophic gender-related neuroimaging pathology has been previously reported in other neuropsychiatric disorders such as schizophrenia and may be explained by oestrogen neuroprotective effects. Such observations could be very important in determining the course and prognosis of WD neuropsychiatric signs because brain atrophy is now used as a disease progression biomarker in many neurological disorders.