{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T11:40:11Z","timestamp":1759232411989,"version":"3.44.0"},"reference-count":13,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T00:00:00Z","timestamp":1745280000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Spastic ataxia type 5 (SPAX5) is a rare autosomal recessive neurodegenerative disorder caused by biallelic variants in the <jats:italic>AFG3L2<\/jats:italic> gene. It is characterized by spasticity, cerebellar ataxia, dystonia, and myoclonic epilepsy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>The objective was to describe the clinical features, with a focus on abnormal movements, and therapeutic outcomes in two Colombian patients with SPAX5.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two non\u2010consanguineous patients were evaluated for movement disorders, including spasticity, dystonia, and myoclonus, along with developmental regression and seizures. Treatment responses to antiepileptic drugs and levodopa were analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Both patients presented with lower extremity spasticity, generalized dystonia, myoclonus, and seizures. Their responses to treatment were highly variable.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study emphasizes the importance of abnormal movements in the clinical presentation of SPAX5 and highlights the variability in treatment outcomes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.70092","type":"journal-article","created":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T08:30:47Z","timestamp":1745310647000},"page":"1380-1384","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Biallelic Variants in <scp><i>AFG3L2<\/i><\/scp> Causing Spastic Ataxia Type 5 (<scp>SPAX5<\/scp>): Report of Two Pediatric Cases from Bogot\u00e1, Colombia"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8340-2950","authenticated-orcid":false,"given":"Mar\u00eda Camila","family":"Cort\u00e9s\u2010Rojas","sequence":"first","affiliation":[{"name":"Child Neurology Resident, Hospital Militar Central  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2244-0838","authenticated-orcid":false,"given":"Ana Mar\u00eda","family":"Zarante\u2010Baham\u00f3n","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Instituto Roosevelt Bogot\u00e1  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2697-2380","authenticated-orcid":false,"given":"Jorge Luis","family":"Ram\u00f3n\u2010G\u00f3mez","sequence":"additional","affiliation":[{"name":"Child Neurology Department Instituto Roosevelt Bogot\u00e1  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0b013e31826d5fb0"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002325"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2021.117600"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2009.02873.x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.09.013"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51024"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2005.08.003"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1532-09.2009"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01470-06"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heliyon.2023.e14766"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.03.019"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-019-01036-2"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2018.17"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.70092","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T11:04:51Z","timestamp":1759230291000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.70092"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,22]]},"references-count":13,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1002\/mdc3.70092"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.70092","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"type":"print","value":"2330-1619"},{"type":"electronic","value":"2330-1619"}],"subject":[],"published":{"date-parts":[[2025,4,22]]},"assertion":[{"value":"2024-12-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-01","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}