{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T18:39:14Z","timestamp":1781203154209,"version":"3.54.1"},"reference-count":37,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,2,24]],"date-time":"2017-02-24T00:00:00Z","timestamp":1487894400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["MH094681"],"award-info":[{"award-number":["MH094681"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["HD040661"],"award-info":[{"award-number":["HD040661"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["HD036071"],"award-info":[{"award-number":["HD036071"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Background<\/jats:bold>: Fragile X\u2010associated tremor\/ataxia syndrome is an adult\u2010onset disorder associated with premutation alleles of the <jats:italic>FMR1<\/jats:italic> gene. This disorder is characterized by progressive action tremor, gait ataxia, and cognitive decline. Fragile X\u2010associated tremor\/ataxia syndrome pathology includes dystrophic white matter and intranuclear inclusions in neurons and astrocytes. We previously demonstrated that the transport of iron into the brain is altered in fragile X\u2010associated tremor\/ataxia syndrome; therefore, we also expect an alteration of iron metabolism in brain areas related to motor control. Iron is essential for cell metabolism, but uncomplexed iron leads to oxidative stress and contributes to the development of neurodegenerative diseases. We investigated a potential iron modification in the putamen \u2010 a structure that participates in motor learning and performance \u2010 in fragile X\u2010associated tremor\/ataxia syndrome.<\/jats:p><jats:p><jats:bold>Methods<\/jats:bold>: We used samples of putamen obtained from 9 fragile X\u2010associated tremor\/ataxia syndrome and 9 control cases to study iron localization using Perl's method, and iron\u2010binding proteins using immunostaining.<\/jats:p><jats:p><jats:bold>Results<\/jats:bold>: We found increased iron deposition in neuronal and glial cells in the putamen in fragile X\u2010associated tremor\/ataxia syndrome. We also found a generalized decrease in the amount of the iron\u2010binding proteins transferrin and ceruloplasmin, and decreased number of neurons and glial cells that contained ceruloplasmin. However, we found increased levels of iron, transferrin, and ceruloplasmin in microglial cells, indicating an attempt by the immune system to remove the excess iron.<\/jats:p><jats:p><jats:bold>Conclusions<\/jats:bold>: Overall, found a deficit in proteins that eliminate extra iron from the cells with a concomitant increase in the deposit of cellular iron in the putamen in Fragile X\u2010associated tremor\/ataxia syndrome. \u00a9 2017 International Parkinson and Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.26902","type":"journal-article","created":{"date-parts":[[2017,2,24]],"date-time":"2017-02-24T09:40:29Z","timestamp":1487929229000},"page":"585-591","source":"Crossref","is-referenced-by-count":37,"title":["Iron accumulation and dysregulation in the putamen in fragile X\u2010associated tremor\/ataxia syndrome"],"prefix":"10.1002","volume":"32","author":[{"given":"Jeanelle","family":"Ariza","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine UC Davis School of Medicine, and the Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children of Northern California Sacramento California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hailee","family":"Rogers","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine UC Davis School of Medicine, and the Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children of Northern California Sacramento California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Hartvigsen","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine UC Davis School of Medicine, and the Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children of Northern California Sacramento 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