{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:23:11Z","timestamp":1760984591368,"version":"build-2065373602"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,11,19]],"date-time":"2012-11-19T00:00:00Z","timestamp":1353283200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2013,2]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Recently, mutations in an open\u2010reading frame on chromosome 19 (<jats:italic>C19orf12<\/jats:italic>) were identified as a novel genetic factor in neurodegeneration with brain iron accumulation (NBIA). Because of the mitochondrial localization of the derived protein, this variant is referred to as mitochondrial membrane protein\u2010associated neurodegeneration with brain iron accumulation (MPAN).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods\/Results<\/jats:title><jats:p>We describe the clinical phenotype and MRI of 3 newly identified individuals with MPAN due to either previously reported or novel homozygous or compound heterozygous genetic alterations in <jats:italic>C19orf12<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>MPAN is characterized by a juvenile\u2010onset, slowly progressive phenotype with predominant lower limb spasticity, generalized dystonia, and cognitive impairment. Typical additional features include axonal motor neuropathy and atrophy of the optic nerve. MRI showed iron deposition in the globus pallidus and substantia nigra without the eye\u2010of\u2010the\u2010tiger sign, which is typical for PKAN, the most frequent form of NBIA. \u00a9 2012 Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.25256","type":"journal-article","created":{"date-parts":[[2012,11,19]],"date-time":"2012-11-19T14:41:15Z","timestamp":1353336075000},"page":"224-227","source":"Crossref","is-referenced-by-count":42,"title":["Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation"],"prefix":"10.1002","volume":"28","author":[{"given":"Eva C.","family":"Schulte","sequence":"first","affiliation":[{"name":"Neurologische Klinik und Poliklinik Klinikum rechts der Isar Technische Universit\u00e4t M\u00fcnchen Munich Germany"},{"name":"Institut f\u00fcr Humangenetik Helmholtz Zentrum M\u00fcnchen Munich Germany"},{"name":"Institut f\u00fcr Humangenetik Klinikum recht der Isar Technische Universit\u00e4t M\u00fcnchen Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malte C.","family":"Claussen","sequence":"additional","affiliation":[{"name":"Neurologische Klinik und Poliklinik Klinikum rechts der Isar Technische Universit\u00e4t M\u00fcnchen Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Jochim","sequence":"additional","affiliation":[{"name":"Neurologische Klinik und Poliklinik Klinikum rechts der Isar Technische Universit\u00e4t M\u00fcnchen Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tobias","family":"Haack","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik Helmholtz Zentrum M\u00fcnchen Munich Germany"},{"name":"Institut f\u00fcr Humangenetik Klinikum recht der Isar Technische Universit\u00e4t M\u00fcnchen Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Hartig","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik Helmholtz Zentrum M\u00fcnchen Munich Germany"},{"name":"Institut f\u00fcr Humangenetik Klinikum recht der Isar Technische Universit\u00e4t M\u00fcnchen Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maja","family":"Hempel","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik Helmholtz Zentrum M\u00fcnchen Munich Germany"},{"name":"Institut f\u00fcr Humangenetik Klinikum recht der Isar Technische Universit\u00e4t M\u00fcnchen Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik Helmholtz Zentrum M\u00fcnchen Munich Germany"},{"name":"Institut f\u00fcr Humangenetik Klinikum recht der Isar Technische Universit\u00e4t M\u00fcnchen Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ursula","family":"Haun\u2010J\u00fcnger","sequence":"additional","affiliation":[{"name":"Sozialp\u00e4diatrisches Zentrum Klinikum Bremen\u2010Mitte Bremen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliane","family":"Winkelmann","sequence":"additional","affiliation":[{"name":"Neurologische Klinik und Poliklinik Klinikum rechts der Isar Technische Universit\u00e4t M\u00fcnchen Munich Germany"},{"name":"Institut f\u00fcr Humangenetik Helmholtz Zentrum M\u00fcnchen Munich Germany"},{"name":"Institut f\u00fcr Humangenetik Klinikum recht der Isar Technische Universit\u00e4t M\u00fcnchen Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernhard","family":"Hemmer","sequence":"additional","affiliation":[{"name":"Neurologische Klinik und Poliklinik Klinikum rechts der Isar Technische Universit\u00e4t M\u00fcnchen Munich 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