BACKGROUND: Although brain atrophy is common in neurological Wilson's disease, longitudinal studies are lacking.

OBJECTIVE: The objective of this study was to measure longitudinal brain atrophy rate and to relate it to the change in neurological impairment in Wilson's disease.

METHODS: We included patients with brain imaging done at diagnosis and at least 12 months later. The atrophy rate was measured as percentage change in ventricular volume, whereas the change in neurological impairment was scored on the Unified Wilson's Disease Rating Scale.

RESULTS: Of 57 patients, 36 had neurological presentation, 17 had hepatic presentation, and 4 were presymptomatic. The annualized atrophy rate was significantly greater in patients with the neurological presentation than in other patients (P = 0.001). In the neurological presentation, the atrophy rate correlated with the change in impairment (rho = 0.39, P = 0.018) and was significantly greater in those with worsening after diagnosis than in those without worsening (P < 0.001).

CONCLUSIONS: Brain atrophy rate appears as a promising marker of neurodegeneration in Wilson's disease. © 2022 International Parkinson and Movement Disorder Society.