{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,12]],"date-time":"2026-07-12T06:08:36Z","timestamp":1783836516833,"version":"3.55.0"},"reference-count":8,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T00:00:00Z","timestamp":1759795200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T00:00:00Z","timestamp":1759795200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","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":[[2025,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Complex lipid metabolism is one of the main biological pathways disrupted in neurodegeneration with brain iron accumulation (NBIA).\n                      <jats:italic>SLC27A3<\/jats:italic>\n                      gene encodes for the very long\u2010chain acyl\u2010CoA synthetase 3, an acyl\u2010CoA ligase that activates long and very long\u2010chain fatty acids.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      We report on a 19\u2010year\u2010old patient with an NBIA pattern harboring a homozygous, nonsense\n                      <jats:italic>SLC27A3<\/jats:italic>\n                      variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      <jats:italic>SLC27A3<\/jats:italic>\n                      variants were identified using whole exome sequencing (WES). Their impact on protein function was assessed in patient fibroblasts using Western blot analysis, aerobic metabolism analysis, and fatty acid trafficking assays.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The patient presented with progressive ataxia, neuropathy, optic atrophy, cognitive deterioration, mood disorder, and brain iron accumulation. WES unraveled the homozygous c.1138C&gt;T, p.(Arg380Ter) variant in the\n                      <jats:italic>SLC27A3<\/jats:italic>\n                      gene. Functional studies showed that proband's variants eliminate protein expression, severely impair mitochondrial respiration, and disrupt lipid turnover.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our results suggest that\n                      <jats:italic>SLC27A3<\/jats:italic>\n                      biallelic nonsense variant may represent a novel cause of NBIA. \u00a9 2025 The Author(s).\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.70079","type":"journal-article","created":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T07:30:00Z","timestamp":1759822200000},"page":"2825-2829","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Biallelic Variants in\n                    <scp>\n                      <i>SLC27A3<\/i>\n                    <\/scp>\n                    Cause a Complex Form of Neurodegeneration with Brain Iron Accumulation"],"prefix":"10.1002","volume":"40","author":[{"given":"Lorena","family":"Travaglini","sequence":"first","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cherim","family":"Jeon","sequence":"additional","affiliation":[{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Rizza","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"},{"name":"UniCamillus\u2014Saint Camillus International University of Health Sciences  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Specchio","sequence":"additional","affiliation":[{"name":"Neurology, Epilepsy and Movement Disorders Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome 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Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3029-8536","authenticated-orcid":false,"given":"Giacomo","family":"Garone","sequence":"additional","affiliation":[{"name":"Neurology, Epilepsy and Movement Disorders Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,10,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.01024"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000844"},{"key":"e_1_2_10_4_1","volume-title":"GeneReviews\u00ae","author":"Gregory 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