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We report a case of a patient showing spastic\u2013ataxic paraparesis and Dandy\u2013Walker variant associated with a causative homozygous c.421\u20101G\u2009&gt;\u2009A variant in the <jats:italic>TRMT10A<\/jats:italic> gene, affecting a canonical splicing site. This mutation disrupts the \u201cSAM\u2010dependent methyltransferase TRM10\u2010type domain\u201d, which is implicated in methylation and S\u2010adenosylmethionine metabolic biological processes, crucial for mitochondrial and glucose metabolism. The prominent neurological involvement of our patient enhances the implication of <jats:italic>TRMT10A<\/jats:italic> in the brain development, suggesting a potential association between <jats:italic>TRMT10A<\/jats:italic> variants and dominant neurological phenotypes. This case expands the clinical spectrum of <jats:italic>TRMT10A<\/jats:italic> syndrome highlighting the importance of considering this gene in the evaluation of patients with brain\/cerebellar malformations and spastic\u2013ataxic paraparesis. Further research is warranted to elucidate the underlying pathogenic mechanisms and potential therapeutic implications.<\/jats:p>","DOI":"10.1002\/ajmg.b.33015","type":"journal-article","created":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T12:23:57Z","timestamp":1729686237000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["New Insights Into <scp>TRMT10A<\/scp> Syndrome: Case Report and Literature Review"],"prefix":"10.1002","volume":"198","author":[{"given":"Graziana","family":"Ceraolo","sequence":"first","affiliation":[{"name":"Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age \u201cGaetano Barresi\u201d University of Messina  Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-6714-6952","authenticated-orcid":false,"given":"Giulia","family":"Spoto","sequence":"additional","affiliation":[{"name":"Unit of Child Neurology and Psychiatry, Department of Biomedical Sciences, Dental Sciences &amp; Morpho\u2010Functional Imaging University of Messina  Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ambra","family":"Butera","sequence":"additional","affiliation":[{"name":"Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age \u201cGaetano Barresi\u201d University of Messina  Messina Italy"},{"name":"Unit of Child Neurology and Psychiatry, Department of Chemical, Biological, Farmaceutical &amp; Environmental Science University of Messina  Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Span\u00f2","sequence":"additional","affiliation":[{"name":"Unit of Child Neurology and Psychiatry, Maternal\u2010Infantile Department University of Messina  Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirella","family":"Vinci","sequence":"additional","affiliation":[{"name":"Oasi Research Institute\u2014IRCCS  Troina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Girolamo Aurelio","family":"Vitello","sequence":"additional","affiliation":[{"name":"Oasi Research Institute\u2014IRCCS  Troina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonino","family":"Musumeci","sequence":"additional","affiliation":[{"name":"Oasi Research Institute\u2014IRCCS  Troina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Cal\u00ec","sequence":"additional","affiliation":[{"name":"Oasi Research Institute\u2014IRCCS  Troina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0847-2243","authenticated-orcid":false,"given":"Antonio Gennaro","family":"Nicotera","sequence":"additional","affiliation":[{"name":"Unit of Child Neurology and Psychiatry, Maternal\u2010Infantile Department University of Messina  Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Di Rosa","sequence":"additional","affiliation":[{"name":"Unit of Child Neurology and Psychiatry, Department of Biomedical Sciences, Dental Sciences &amp; Morpho\u2010Functional Imaging University of Messina  Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,10,23]]},"reference":[{"issue":"10","key":"e_1_2_8_2_1","first-page":"478","article-title":"tRNA Methyltransferase Defects and Intellectual Disability","volume":"21","author":"Abedini S. 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