{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T08:00:35Z","timestamp":1776844835963,"version":"3.51.2"},"reference-count":50,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,1,14]],"date-time":"2022-01-14T00:00:00Z","timestamp":1642118400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Hereditary haemochromatosis (HH) is the most common inherited disorder of systemic iron excess in Northern Europeans. Emerging evidence indicates that brain iron overload occurs in HH. Despite this observation, there is a paucity of literature regarding central neurological manifestations, in particular movement disorders, in HH. The current study documents deep gray matter (DGM) nuclei iron deposition, movement disorders, and clinicoradiological correlations in HH without liver failure.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This is a cross\u2010sectional study. Consecutive subjects with <jats:italic>HFE<\/jats:italic>\u2010haemochromatosis without liver disease were recruited from an outpatient gastroenterology clinic. Age\u2010 and sex\u2010matched healthy controls (HCs) were enrolled. Iron content in individual DGM nuclei was measured as mean susceptibility on magnetic resonance imaging using quantitative susceptibility mapping\u2010based regions of interest analysis. Occurrence and phenotype of movement disorders were documented and correlated with patterns of DGM nuclei iron deposition in subjects with HH.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fifty\u2010two subjects with HH and 47 HCs were recruited. High magnetic susceptibility was demonstrated in several DGM nuclei in all HH subjects compared to HCs. Thirty\u2010five subjects with HH had movement disorders. Magnetic susceptibility in specific DGM nuclei correlated with individual movement disorder phenotypes. Serum ferritin, phlebotomy frequency, and duration were poor predictors of brain iron deposition.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Abnormal brain iron deposition can be demonstrated on imaging in all subjects with HH without liver failure. A significant proportion of these subjects manifest movement disorders. Peripheral iron measurements appear not to correlate with brain iron deposition. Therefore, routine neurological examination and quantitative brain iron imaging are recommended in all subjects with HH.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15242","type":"journal-article","created":{"date-parts":[[2022,1,6]],"date-time":"2022-01-06T08:51:48Z","timestamp":1641459108000},"page":"1417-1426","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Brain iron deposition and movement disorders in hereditary haemochromatosis without liver failure: A cross\u2010sectional study"],"prefix":"10.1111","volume":"29","author":[{"given":"Soumya","family":"Sharma","sequence":"first","affiliation":[{"name":"Department of Clinical Neurological Sciences London Health Sciences Centre Western University  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sean Kumar","family":"Sethi","sequence":"additional","affiliation":[{"name":"Department of Radiology Wayne State University  Detroit Michigan USA"},{"name":"Magnetic Resonance Innovations  Bingham Farms Michigan USA"},{"name":"SpinTech  Bingham Farms Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Reese","sequence":"additional","affiliation":[{"name":"Imaging Research Laboratories Robarts Research Institute  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Gharabaghi","sequence":"additional","affiliation":[{"name":"Magnetic Resonance Innovations  Bingham Farms Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiran Kumar","family":"Yerramsetty","sequence":"additional","affiliation":[{"name":"MR Medical Imaging Innovations India  Hyderabad Telangana India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vinay Kumar","family":"Palutla","sequence":"additional","affiliation":[{"name":"MR Medical Imaging Innovations India  Hyderabad Telangana India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7114-5731","authenticated-orcid":false,"given":"Yongsheng","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology Wayne State University School of Medicine  Detroit Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. 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