{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T02:06:20Z","timestamp":1762049180125,"version":"build-2065373602"},"reference-count":12,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2022,4,26]],"date-time":"2022-04-26T00:00:00Z","timestamp":1650931200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>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 \u2018lesion model\u2019 of myoclonic epilepsy.<\/jats:p>","DOI":"10.3390\/brainsci12050553","type":"journal-article","created":{"date-parts":[[2022,4,26]],"date-time":"2022-04-26T11:45:55Z","timestamp":1650973555000},"page":"553","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Can Disruption of Basal Ganglia-Thalamocortical Circuit in Wilson Disease Be Associated with Juvenile Myoclonic Epilepsy Phenotype?"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1856-7422","authenticated-orcid":false,"given":"Jessica","family":"Rossi","sequence":"first","affiliation":[{"name":"Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, 41121 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Cavallieri","sequence":"additional","affiliation":[{"name":"Neurology Unit, Neuromotor & Rehabilitation Department, Azienda USL-IRCCS of Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3585-5872","authenticated-orcid":false,"given":"Giada","family":"Giovannini","sequence":"additional","affiliation":[{"name":"Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, 41121 Modena, Italy"},{"name":"Unit of Neurology, OCB, Azienda Ospedaliero Universitaria di Modena, 41126 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Benuzzi","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Ballotta","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Elisabetta","family":"Vaudano","sequence":"additional","affiliation":[{"name":"Unit of Neurology, OCB, Azienda Ospedaliero Universitaria di Modena, 41126 Modena, Italy"},{"name":"Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Ferrara","sequence":"additional","affiliation":[{"name":"Internal Medicine Unit, Centre for Hemochromatosis and Heredometabolic Liver Diseases, Policlinico, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Contardi","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neurologia e Rete Stroke Metropolitana, Ospedale Maggiore, 40133 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonello","family":"Pietrangelo","sequence":"additional","affiliation":[{"name":"Internal Medicine Unit, Centre for Hemochromatosis and Heredometabolic Liver Diseases, Policlinico, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy"},{"name":"Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9477-2164","authenticated-orcid":false,"given":"Elena","family":"Corradini","sequence":"additional","affiliation":[{"name":"Internal Medicine Unit, Centre for Hemochromatosis and Heredometabolic Liver Diseases, Policlinico, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy"},{"name":"Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6577-059X","authenticated-orcid":false,"given":"Fausta","family":"Lui","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Meletti","sequence":"additional","affiliation":[{"name":"Unit of Neurology, OCB, Azienda Ospedaliero Universitaria di Modena, 41126 Modena, Italy"},{"name":"Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"S64","DOI":"10.21037\/atm.2019.02.43","article-title":"Neurologic impairment in Wilson disease","volume":"7","author":"Dusek","year":"2019","journal-title":"Ann. Transl. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"23","DOI":"10.4103\/jrms.JRMS_362_16","article-title":"Magnetic resonance imaging findings in diagnosis and prognosis of Wilson disease","volume":"23","author":"Salari","year":"2018","journal-title":"J. Res. Med. Sci."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1111\/nan.12341","article-title":"Brain iron accumulation in Wilson disease: A postmortem 7 Tesla MRI\u2014Histopathological study","volume":"43","author":"Dusek","year":"2017","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.jns.2010.01.007","article-title":"Spectrum of epilepsy in Wilson\u2019s disease with electroencephalographic, MR imaging and pathological correlates","volume":"291","author":"Prashanth","year":"2010","journal-title":"J. Neurol. Sci."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Kim, Y.E., Yun, J.Y., Yang, H.J., Kim, H.J., and Jeon, B.S. (2013). Unusual epileptic deterioration and extensive white matter lesion during treatment in Wilson\u2019s disease. BMC Neurol., 13.","DOI":"10.1186\/1471-2377-13-127"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1002\/pnp.559","article-title":"Coexistence of seizure with Wilson\u2019s disease: A systematic review","volume":"24","author":"Ibrahim","year":"2020","journal-title":"Prog. Neurol. Psychiatry"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.seizure.2016.09.005","article-title":"Juvenile myoclonic epilepsy: Challenges on its 60th anniversary","volume":"44","author":"Yacubian","year":"2017","journal-title":"Seizure"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1093\/brain\/awz361","article-title":"Disrupted basal ganglia-thalamocortical loops in focal to bilateral tonic-clonic seizures","volume":"143","author":"He","year":"2020","journal-title":"Brain"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"77","DOI":"10.14581\/jer.17013","article-title":"Grey and White Matter Alterations in Juvenile Myoclonic Epilepsy: A Comprehensive Review","volume":"7","author":"Kim","year":"2017","journal-title":"J. Epilepsy Res."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1212\/WNL.0b013e3182563b44","article-title":"Altered microstructural connectivity in juvenile myoclonic epilepsy the missing link","volume":"78","author":"Vollmar","year":"2012","journal-title":"Neurology"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"3635","DOI":"10.1093\/brain\/aws296","article-title":"Abnormal thalamocortical structural and functional connectivity in juvenile myoclonic epilepsy","volume":"135","author":"Vollmar","year":"2012","journal-title":"Brain"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.nicl.2017.11.001","article-title":"Subcortical grey matter changes in juvenile myoclonic epilepsy","volume":"17","author":"Kim","year":"2018","journal-title":"NeuroImage Clin."}],"container-title":["Brain Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2076-3425\/12\/5\/553\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T23:01:26Z","timestamp":1760137286000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2076-3425\/12\/5\/553"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,26]]},"references-count":12,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2022,5]]}},"alternative-id":["brainsci12050553"],"URL":"https:\/\/doi.org\/10.3390\/brainsci12050553","relation":{},"ISSN":["2076-3425"],"issn-type":[{"type":"electronic","value":"2076-3425"}],"subject":[],"published":{"date-parts":[[2022,4,26]]}}}