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Biallelic variants in\n                    <jats:italic>OGDH<\/jats:italic>\n                    have been reported to cause an early\u2010onset neurodevelopmental and mitochondrial disorder. However, monoallelic\n                    <jats:italic>OGDH<\/jats:italic>\n                    variants have not been associated with human disease. Here, we identified\n                    <jats:italic>de novo<\/jats:italic>\n                    c.1909C&gt;T (p.Arg637Trp) and heterozygous c.162T&gt;G (p.Ser54Arg) variants in\n                    <jats:italic>OGDH<\/jats:italic>\n                    in unrelated individuals exhibiting late\u2010onset neurological phenotypes, characterized by cerebellar ataxia, peripheral neuropathy and optic atrophy. In silico protein structure predictions suggest that the p.Arg637Trp mutation might influence protein function. To determine the functional effects of the\n                    <jats:italic>OGDH<\/jats:italic>\n                    variants in\u00a0vivo, we generated\n                    <jats:italic>Drosophila<\/jats:italic>\n                    models harboring\n                    <jats:italic>UAS\u2010dOgdh<\/jats:italic>\n                    (\n                    <jats:italic>p.Arg639Trp<\/jats:italic>\n                    ) and\n                    <jats:italic>UAS\u2010dOgdh<\/jats:italic>\n                    (\n                    <jats:italic>p.Thr58Arg<\/jats:italic>\n                    ) mutations, homologous to the human variants. While the mutant\n                    <jats:italic>OGDH<\/jats:italic>\n                    expression did not lead to defects in development, it did lead to age\u2010dependent locomotion defects. Further, we found that p.Arg639Trp mutant leads to defective OGDH activity, while p.Thr58Arg causes abnormal proteolytic cleavage and impaired mitochondrial import. These findings suggest that the variants act as dominant\u2010negative and toxic gain\u2010of\u2010function mutations, respectively. Our data provide evidence that monoallelic\u2009\n                    <jats:italic>OGDH<\/jats:italic>\n                    \u2009variants are involved in late\u2010onset neurological disease in humans.\n                  <\/jats:p>","DOI":"10.1002\/jmd2.70103","type":"journal-article","created":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T07:25:07Z","timestamp":1780903507000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Heterozygous\n                    <i>OGDH<\/i>\n                    Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy"],"prefix":"10.1002","volume":"67","author":[{"given":"Liedewei","family":"Van de Vondel","sequence":"first","affiliation":[{"name":"Translational Neurosciences, Faculty of Medicine and Health Sciences University of Antwerp  Antwerp Belgium"},{"name":"Laboratory of Neuromuscular Pathology, Institute Born\u2010Bunge, University of Antwerp  Antwerp Belgium"},{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine  Miami Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gyu S.","family":"Lee","sequence":"additional","affiliation":[{"name":"Aging &amp; Metabolism Research Program, Oklahoma Medical Research Foundation  Oklahoma City Oklahoma USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0166-6758","authenticated-orcid":false,"given":"Jonathan","family":"De Winter","sequence":"additional","affiliation":[{"name":"Translational Neurosciences, Faculty of Medicine and Health Sciences University of Antwerp  Antwerp Belgium"},{"name":"Laboratory of Neuromuscular Pathology, Institute Born\u2010Bunge, University of Antwerp  Antwerp Belgium"},{"name":"Department of Neurology Neuromuscular Reference Centre, Antwerp University Hospital  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Matsuzaki","sequence":"additional","affiliation":[{"name":"Aging &amp; Metabolism Research Program, Oklahoma Medical Research Foundation  Oklahoma City Oklahoma USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail","family":"Sandoval","sequence":"additional","affiliation":[{"name":"Aging &amp; Metabolism Research Program, Oklahoma Medical Research Foundation  Oklahoma City Oklahoma USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Felipe","family":"Ramirez","sequence":"additional","affiliation":[{"name":"Aging &amp; Metabolism Research Program, Oklahoma Medical Research Foundation  Oklahoma City Oklahoma USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Monticelli","sequence":"additional","affiliation":[{"name":"Translational Neurosciences, Faculty of Medicine and Health Sciences University of Antwerp  Antwerp Belgium"},{"name":"Laboratory of Neuromuscular Pathology, Institute Born\u2010Bunge, University of Antwerp  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukyeong","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Biochemistry &amp; Molecular Pharmacology Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9841-170X","authenticated-orcid":false,"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences School of Clinical Medicine, University of Cambridge  Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"de Bleecker","sequence":"additional","affiliation":[{"name":"Department of Neurology Ghent University Hospital  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Z\u00fcchner","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine  Miami Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth M.","family":"Humphries","sequence":"additional","affiliation":[{"name":"Aging &amp; Metabolism Research Program, Oklahoma Medical Research Foundation  Oklahoma City Oklahoma USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Baets","sequence":"additional","affiliation":[{"name":"Translational Neurosciences, Faculty of Medicine and Health Sciences University of Antwerp  Antwerp Belgium"},{"name":"Laboratory of Neuromuscular Pathology, Institute Born\u2010Bunge, University of Antwerp  Antwerp Belgium"},{"name":"Department of Neurology Neuromuscular Reference Centre, Antwerp University Hospital  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9459-3139","authenticated-orcid":false,"given":"Wan Hee","family":"Yoon","sequence":"additional","affiliation":[{"name":"Aging &amp; Metabolism Research Program, Oklahoma Medical Research Foundation  Oklahoma City Oklahoma USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,8]]},"reference":[{"issue":"42","key":"e_1_2_11_2_1","doi-asserted-by":"crossref","first-page":"38329","DOI":"10.1074\/jbc.R100026200","article-title":"A Trail of Research From Lipoic Acid to Alpha\u2010Keto Acid Dehydrogenase Complexes","volume":"276","author":"Reed L. 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