{Reference Type}: Case Reports
{Title}: Can Disruption of Basal Ganglia-Thalamocortical Circuit in Wilson Disease Be Associated with Juvenile Myoclonic Epilepsy Phenotype?
{Author}: Rossi J;Cavallieri F;Giovannini G;Benuzzi F;Ballotta D;Vaudano AE;Ferrara F;Contardi S;Pietrangelo A;Corradini E;Lui F;Meletti S;
{Journal}: Brain Sci
{Volume}: 12
{Issue}: 5
{Year}: Apr 2022 26
{Factor}: 3.333
{DOI}: 10.3390/brainsci12050553
{Abstract}: In this paper, we describe the multimodal MRI findings in a patient with Wilson disease and a seizure disorder, characterized by an electroclinical picture resembling juvenile myoclonic epilepsy. The brain structural MRI showed a deposition of ferromagnetic materials in the basal ganglia, with marked hypointensities in T2-weighted images of globus pallidus internus bilaterally. A resting-state fMRI study revealed increased functional connectivity in the patient, compared to control subjects, in the following networks: (1) between the primary motor cortex and several cortical regions, including the secondary somatosensory cortex and (2) between the globus pallidus and the thalamo-frontal network. These findings suggest that globus pallidus alterations, due to metal accumulation, can lead to a reduction in the normal globus pallidus inhibitory tone on the thalamo-(motor)-cortical pathway. This, in turn, can result in hyperconnectivity in the motor cortex circuitry, leading to myoclonus and tonic-clonic seizures. We suppose that, in this patient, Wilson disease generated a 'lesion model' of myoclonic epilepsy.