{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T20:16:13Z","timestamp":1787170573134,"version":"build-2736575974"},"reference-count":33,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T00:00:00Z","timestamp":1692576000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006005","name":"Agence de la Biom\u00e9decine","doi-asserted-by":"publisher","award":["NCT05615571"],"award-info":[{"award-number":["NCT05615571"]}],"id":[{"id":"10.13039\/501100006005","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":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Mitochondrial membrane protein\u2010associated neurodegeneration (MPAN) is caused by mutations in the\n                      <jats:italic>C19orf12<\/jats:italic>\n                      gene. MPAN typically appears in the first two decades of life and presents with progressive dystonia\u2010parkinsonism, lower motor neuron signs, optic atrophy, and abnormal iron deposits predominantly in the basal ganglia. MPAN, initially considered as a strictly autosomal recessive disease (AR), turned out to be also dominantly inherited (AD).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Our aim was to better characterize the clinical, molecular, and functional spectra associated with such dominant pathogenic heterozygous\n                      <jats:italic>C19orf12<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We collected clinical, imaging, and molecular information of eight individuals from four AD\u2010MPAN families and obtained brain neuropathology results for one. Functional studies, focused on energy and iron metabolism, were conducted on fibroblasts from AD\u2010MPAN patients, AR\u2010MPAN patients, and controls.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified four heterozygous\n                      <jats:italic>C19orf12<\/jats:italic>\n                      variants in eight AD\u2010MPAN patients. Two of them carrying the familial variant in mosaic displayed an atypical late\u2010onset phenotype. Fibroblasts from AD\u2010MPAN showed more severe alterations of iron storage metabolism and autophagy compared to AR\u2010MPAN cells.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our data add strong evidence of the realness of AD\u2010MPAN with identification of novel monoallelic\n                      <jats:italic>C19orf12<\/jats:italic>\n                      variants, including at the mosaic state. This has implications in diagnosis procedures. We also expand the phenotypic spectrum of MPAN to late onset atypical presentations. Finally, we demonstrate for the first time more drastic abnormalities of iron metabolism and autophagy in AD\u2010MPAN than in AR\u2010MPAN. \u00a9 2023 The Authors.\n                      <jats:italic>Movement Disorders<\/jats:italic>\n                      published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.29576","type":"journal-article","created":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T02:12:03Z","timestamp":1692670323000},"page":"2103-2115","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Autosomal Dominant\n                    <scp>MPAN<\/scp>\n                    : Mosaicism Expands the Clinical Spectrum to Atypical Late\u2010Onset Phenotypes"],"prefix":"10.1002","volume":"38","author":[{"given":"Chlo\u00e9","family":"Angelini","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Pellegrin, CHU Bordeaux  Bordeaux France"},{"name":"Centre de R\u00e9f\u00e9rence Maladies Rares \u00abNeurog\u00e9n\u00e9tique\u00bb, Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Bordeaux  Bordeaux France"},{"name":"University of Bordeaux, CNRS, INCIA, UMR 5287, NRGen Team  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christelle Marie","family":"Durand","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Pellegrin, CHU Bordeaux  Bordeaux France"},{"name":"Centre de R\u00e9f\u00e9rence Maladies Rares \u00abNeurog\u00e9n\u00e9tique\u00bb, Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Bordeaux  Bordeaux France"},{"name":"University of Bordeaux, CNRS, INCIA, UMR 5287, NRGen Team  Bordeaux France"},{"name":"MRGM, University of Bordeaux, INSERM U1211  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Fergelot","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Pellegrin, CHU Bordeaux  Bordeaux France"},{"name":"MRGM, University of Bordeaux, INSERM U1211  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Deforges","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Pellegrin, CHU Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Vital","sequence":"additional","affiliation":[{"name":"Service d'Anatomie Pathologique H\u00f4pital Pellegrin, CHU Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrice","family":"Menegon","sequence":"additional","affiliation":[{"name":"Service de Neuroradiologie H\u00f4pital Pellegrin, CHU Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Sarrazin","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Maladies Rares Neuromusculaires (AOC) H\u00f4pital Pierre Zobda Quitman, CHU Martinique  Fort de France Martinique"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00e9mi","family":"Bellance","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Maladies Rares Neuromusculaires (AOC) H\u00f4pital Pierre Zobda Quitman, CHU Martinique  Fort de France Martinique"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Mathis","sequence":"additional","affiliation":[{"name":"Service de Neurologie (Unit\u00e9 Nerf\u2010Muscle), Centre de R\u00e9f\u00e9rence Maladies Rares, Neuromusculaires (AOC) Centre SLA, H\u00f4pital Pellegrin, CHU Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Gonzalez","sequence":"additional","affiliation":[{"name":"Service de neurologie H\u00f4pital Gui de Chauliac, CHU Montpellier  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathilde","family":"Renaud","sequence":"additional","affiliation":[{"name":"Service de Neurologie CHRU Nancy  Nancy France"},{"name":"Service de G\u00e9n\u00e9tique Clinique CHRU Nancy  Nancy France"},{"name":"NGERE, INSERM U1256, Facult\u00e9 de M\u00e9decine Universit\u00e9 de Lorraine  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sol\u00e8ne","family":"Frismand","sequence":"additional","affiliation":[{"name":"Service de Neurologie CHRU Nancy  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Schmitt","sequence":"additional","affiliation":[{"name":"Service de Neuroradiologie Diagnostique et 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