{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T23:05:01Z","timestamp":1789772701234,"version":"4.0.1"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2024,6,17]],"date-time":"2024-06-17T00:00:00Z","timestamp":1718582400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Conna\u00eetre les Syndromes C\u00e9r\u00e9belleux"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Alpha-tubulin 4A encoding gene (TUBA4A) has been associated with familial amyotrophic lateral sclerosis and frontotemporal dementia, based on identification of likely pathogenic variants in patients from distinct amyotrophic lateral sclerosis and frontotemporal dementia cohorts.<\/jats:p>\n               <jats:p>By screening a multicentric French cohort of 448 unrelated probands presenting with cerebellar ataxia, we identified ultra-rare TUBA4A missense variants, all being absent from public databases and predicted pathogenic by multiple in silico tools. In addition, gene burden analyses in the 100 000 Genomes project (100KGP) showed enrichment of TUBA4A rare variants in the inherited ataxia group compared to controls [odds ratio: 57.0847 (10.2\u2212576.7); P = 4.02 \u00d710\u22127].<\/jats:p>\n               <jats:p>Taken together, we report 12 patients presenting with spasticity and\/or cerebellar ataxia and harbouring a predicted pathogenic TUBA4A missense mutation, including five confirmed de novo cases and a mutation previously reported in a large family presenting with spastic ataxia. Cultured fibroblasts from three patients harbouring distinct TUBA4A missense showed significant alterations in microtubule organization and dynamics, providing insight of TUBA4A variants pathogenicity.<\/jats:p>\n               <jats:p>Our data confirm the identification of a hereditary spastic ataxia disease gene with variable age of onset, expanding the clinical spectrum of TUBA4A associated phenotypes.<\/jats:p>","DOI":"10.1093\/brain\/awae193","type":"journal-article","created":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T13:31:00Z","timestamp":1718371860000},"page":"3681-3689","source":"Crossref","is-referenced-by-count":14,"title":["<i>De novo<\/i> and inherited monoallelic variants in <i>TUBA4A<\/i> cause ataxia and spasticity"],"prefix":"10.1093","volume":"147","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6445-6347","authenticated-orcid":false,"given":"Mehdi","family":"Benkirane","sequence":"first","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique mol\u00e9culaire, Institut Universitaire de Recherche Clinique, CHU of Montpellier , 34090 Montpellier ,","place":["France"]},{"name":"Department of Clinical Research, PhyMedExp Univ Montpellier, CNRS UMR 9214, INSERM U1046 , 34090 Montpellier ,","place":["France"]},{"name":"Department of Medical Genetics, Laboratory of Genomics Medicine, Sorbonne University, APHP , 75006 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Bonhomme","sequence":"additional","affiliation":[{"name":"Cell Biology Research Department, CRBM (Centre de Recherche en Biologie cellulaire de Montpellier), CNRS, Universit\u00e9 de Montpellier , 34293 Montpellier ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9047-0959","authenticated-orcid":false,"given":"Heba","family":"Morsy","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]},{"name":"Human Genetics Department, Medical Research Institute, Alexandria University , Alexandria 21561 ,","place":["Egypt"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie L","family":"Safgren","sequence":"additional","affiliation":[{"name":"Department of Oncology Research, Mayo Clinic , Rochester, MN 55905 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Marelli","sequence":"additional","affiliation":[{"name":"MMDN, Universit\u00e9 de Montpellier, EPHE, INSERM , Montpellier ,","place":["France"]},{"name":"Expert center for Neurogenetic Diseases, CHU of Montpellier , 34095 Montpellier ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annabelle","family":"Chaussenot","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, CHU of Nice , 06000 Nice ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5836-9850","authenticated-orcid":false,"given":"Damian","family":"Smedley","sequence":"additional","affiliation":[{"name":"William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London , London EC1M 6BQ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Cipriani","sequence":"additional","affiliation":[{"name":"William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London , London EC1M 6BQ ,","place":["UK"]},{"name":"UCL Institute of Ophthalmology, University College London , London EC1V 9EL ,","place":["UK"]},{"name":"UCL Genetics Institute, University College London , London WC1E 6BT ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Madeleine","family":"de Sainte-Agathe","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Laboratory of Genomics Medicine, Sorbonne University, APHP , 75006 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Can","family":"Ding","sequence":"additional","affiliation":[{"name":"Institute of human genetics, University of Medicine Mainz , Mainz 55128 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lise","family":"Larrieu","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique mol\u00e9culaire, Institut Universitaire de Recherche Clinique, CHU of Montpellier , 34090 Montpellier ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Letizia","family":"Vestito","sequence":"additional","affiliation":[{"name":"William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London , London EC1M 6BQ 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