{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T10:04:04Z","timestamp":1770890644792,"version":"3.50.1"},"reference-count":44,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,9,13]],"date-time":"2019-09-13T00:00:00Z","timestamp":1568332800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003042","name":"Else Kr\u00f6ner-Fresenius-Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003042","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","award":["n.k."],"award-info":[{"award-number":["n.k."]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007952","name":"Eva Luise und Horst K\u00f6hler Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007952","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mitochondrial membrane protein\u2010associated neurodegeneration is an autosomal\u2010recessive disorder caused by <jats:italic>C19orf12<\/jats:italic> mutations and characterized by iron deposits in the basal ganglia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>The aim of this study was to quantify iron concentrations in deep gray matter structures using quantitative susceptibility mapping MRI and to characterize metabolic abnormalities in the pyramidal pathway using <jats:sup>1<\/jats:sup>H MR spectroscopy in clinically manifesting membrane protein\u2010associated neurodegeneration patients and asymptomatic <jats:italic>C19orf12<\/jats:italic> gene mutation heterozygous carriers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We present data of 4 clinically affected membrane protein\u2010associated neurodegeneration patients (mean age: 21.0\u2009\u00b1\u20092.9\u2009years) and 9 heterozygous gene mutation carriers (mean age: 50.4\u2009\u00b1\u20099.8\u2009years), compared to age\u2010matched healthy controls. MRI assessments were performed on a 7.0 Tesla whole\u2010body system, consisting of whole\u2010brain gradient\u2010echo scans and short echo time, single\u2010volume MR spectroscopy in the white matter of the precentral\/postcentral gyrus. Quantitative susceptibility mapping, a surrogate marker for iron concentration, was performed using a state\u2010of\u2010the\u2010art multiscale dipole inversion approach with focus on the globus pallidus, thalamus, putamen, caudate nucleus, and SN.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results and Conclusion<\/jats:title><jats:p>In membrane protein\u2010associated neurodegeneration patients, magnetic susceptibilities were 2 to 3 times higher in the globus pallidus (<jats:italic>P<\/jats:italic>\u2009=\u20090.02) and SN (<jats:italic>P<\/jats:italic>\u2009=\u20090.02) compared to controls. In addition, significantly higher magnetic susceptibility was observed in the caudate nucleus (<jats:italic>P<\/jats:italic>\u2009=\u20090.02). Non\u2010manifesting heterozygous mutation carriers exhibited significantly increased magnetic susceptibility (relative to controls) in the putamen (<jats:italic>P<\/jats:italic>\u2009=\u20090.003) and caudate nucleus (<jats:italic>P<\/jats:italic>\u2009=\u20090.001), which may be an endophenotypic marker of genetic heterozygosity. MR spectroscopy revealed significantly increased levels of glutamate, taurine, and the combined concentration of glutamate and glutamine in membrane protein\u2010associated neurodegeneration, which may be a correlate of corticospinal pathway dysfunction frequently observed in membrane protein\u2010associated neurodegeneration patients. \u00a9 2019 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.27827","type":"journal-article","created":{"date-parts":[[2019,9,13]],"date-time":"2019-09-13T16:39:58Z","timestamp":1568392798000},"page":"142-150","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Brain Iron and Metabolic Abnormalities in C19orf12 Mutation Carriers: A 7.0 Tesla MRI Study in Mitochondrial Membrane Protein\u2013Associated Neurodegeneration"],"prefix":"10.1002","volume":"35","author":[{"given":"Petr","family":"Dusek","sequence":"first","affiliation":[{"name":"Department of Neurology and Centre of Clinical Neuroscience Charles University, 1st Faculty of Medicine and General University Hospital in Prague  Prague Czechia"},{"name":"Department of Radiology Charles University, 1st Faculty of Medicine and General University Hospital in Prague  Prague Czechia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralf","family":"Mekle","sequence":"additional","affiliation":[{"name":"Physikalisch\u2010Technische Bundesanstalt (PTB)  Braunschweig and Berlin Germany"},{"name":"Center for Stroke Research Berlin (CSB) Charit\u00e9 Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Skowronska","sequence":"additional","affiliation":[{"name":"2nd Department of Neurology Institute of Psychiatry and Neurology  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julio","family":"Acosta\u2010Cabronero","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Human Neuroimaging UCL Institute of Neurology, University College London  London United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Till","family":"Huelnhagen","sequence":"additional","affiliation":[{"name":"Berlin Ultrahigh Field Facility (B.U.F.F.) 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