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Can Disruption of Basal Ganglia-Thalamocortical Circuit in Wilson Disease Be Associated with Juvenile Myoclonic Epilepsy Phenotype?

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 marke...

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Autores principales: Rossi, Jessica, Cavallieri, Francesco, Giovannini, Giada, Benuzzi, Francesca, Ballotta, Daniela, Vaudano, Anna Elisabetta, Ferrara, Francesca, Contardi, Sara, Pietrangelo, Antonello, Corradini, Elena, Lui, Fausta, Meletti, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9138607/
https://www.ncbi.nlm.nih.gov/pubmed/35624941
http://dx.doi.org/10.3390/brainsci12050553
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author Rossi, Jessica
Cavallieri, Francesco
Giovannini, Giada
Benuzzi, Francesca
Ballotta, Daniela
Vaudano, Anna Elisabetta
Ferrara, Francesca
Contardi, Sara
Pietrangelo, Antonello
Corradini, Elena
Lui, Fausta
Meletti, Stefano
author_facet Rossi, Jessica
Cavallieri, Francesco
Giovannini, Giada
Benuzzi, Francesca
Ballotta, Daniela
Vaudano, Anna Elisabetta
Ferrara, Francesca
Contardi, Sara
Pietrangelo, Antonello
Corradini, Elena
Lui, Fausta
Meletti, Stefano
author_sort Rossi, Jessica
collection PubMed
description 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.
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spelling pubmed-91386072022-05-28 Can Disruption of Basal Ganglia-Thalamocortical Circuit in Wilson Disease Be Associated with Juvenile Myoclonic Epilepsy Phenotype? Rossi, Jessica Cavallieri, Francesco Giovannini, Giada Benuzzi, Francesca Ballotta, Daniela Vaudano, Anna Elisabetta Ferrara, Francesca Contardi, Sara Pietrangelo, Antonello Corradini, Elena Lui, Fausta Meletti, Stefano Brain Sci Case Report 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. MDPI 2022-04-26 /pmc/articles/PMC9138607/ /pubmed/35624941 http://dx.doi.org/10.3390/brainsci12050553 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Rossi, Jessica
Cavallieri, Francesco
Giovannini, Giada
Benuzzi, Francesca
Ballotta, Daniela
Vaudano, Anna Elisabetta
Ferrara, Francesca
Contardi, Sara
Pietrangelo, Antonello
Corradini, Elena
Lui, Fausta
Meletti, Stefano
Can Disruption of Basal Ganglia-Thalamocortical Circuit in Wilson Disease Be Associated with Juvenile Myoclonic Epilepsy Phenotype?
title Can Disruption of Basal Ganglia-Thalamocortical Circuit in Wilson Disease Be Associated with Juvenile Myoclonic Epilepsy Phenotype?
title_full Can Disruption of Basal Ganglia-Thalamocortical Circuit in Wilson Disease Be Associated with Juvenile Myoclonic Epilepsy Phenotype?
title_fullStr Can Disruption of Basal Ganglia-Thalamocortical Circuit in Wilson Disease Be Associated with Juvenile Myoclonic Epilepsy Phenotype?
title_full_unstemmed Can Disruption of Basal Ganglia-Thalamocortical Circuit in Wilson Disease Be Associated with Juvenile Myoclonic Epilepsy Phenotype?
title_short Can Disruption of Basal Ganglia-Thalamocortical Circuit in Wilson Disease Be Associated with Juvenile Myoclonic Epilepsy Phenotype?
title_sort can disruption of basal ganglia-thalamocortical circuit in wilson disease be associated with juvenile myoclonic epilepsy phenotype?
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9138607/
https://www.ncbi.nlm.nih.gov/pubmed/35624941
http://dx.doi.org/10.3390/brainsci12050553
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