{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T15:22:03Z","timestamp":1791040923547,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T00:00:00Z","timestamp":1649894400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T00:00:00Z","timestamp":1649894400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>BACKGROUND<\/jats:title>\n                    <jats:p>\n                      Ataxia with oculomotor apraxia (AOA) is characterized by early\u2010onset cerebellar ataxia associated with oculomotor apraxia. AOA1, AOA2, AOA3, and AOA4 subtypes may present pathogenic variants in\n                      <jats:italic>APTX<\/jats:italic>\n                      ,\n                      <jats:italic>SETX<\/jats:italic>\n                      ,\n                      <jats:italic>PIK3R5<\/jats:italic>\n                      , and\n                      <jats:italic>PNKP<\/jats:italic>\n                      genes\n                      <jats:italic>,<\/jats:italic>\n                      respectively. Mutations in\n                      <jats:italic>XRCC1<\/jats:italic>\n                      have been found to cause autosomal recessive spinocerebellar ataxia\u201026 (SCAR26) now considered AOA5.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>OBJECTIVES<\/jats:title>\n                    <jats:p>To examine a cohort of Brazilians with autosomal recessive cerebellar ataxia plus oculomotor apraxia and determine the frequencies of AOA subtypes through genetic investigation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>METHODS<\/jats:title>\n                    <jats:p>\n                      We evaluated clinical, biomarkers, electrophysiological, and radiological findings of 52 patients with AOA phenotype and performed a genetic panel including\n                      <jats:italic>APTX<\/jats:italic>\n                      ,\n                      <jats:italic>SETX<\/jats:italic>\n                      ,\n                      <jats:italic>PIK3R5<\/jats:italic>\n                      ,\n                      <jats:italic>PNKP<\/jats:italic>\n                      , and\n                      <jats:italic>XRCC1<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS<\/jats:title>\n                    <jats:p>\n                      We found pathogenic variants in\n                      <jats:italic>SETX<\/jats:italic>\n                      (15 patients),\n                      <jats:italic>PNKP<\/jats:italic>\n                      (12), and\n                      <jats:italic>APTX<\/jats:italic>\n                      (5). No mutations in\n                      <jats:italic>PIK3R5<\/jats:italic>\n                      or\n                      <jats:italic>XRCC1<\/jats:italic>\n                      were identified.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSIONS<\/jats:title>\n                    <jats:p>\n                      AOA2 and AOA4 were the most common forms of AOA in Brazil. Mutations in\n                      <jats:italic>PIK3R5<\/jats:italic>\n                      and\n                      <jats:italic>XRCC1<\/jats:italic>\n                      were not part of this genetic spectrum. \u00a9 2022 International Parkinson and Movement Disorder Society\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.29015","type":"journal-article","created":{"date-parts":[[2022,4,15]],"date-time":"2022-04-15T01:49:53Z","timestamp":1649987393000},"page":"1309-1316","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia"],"prefix":"10.1002","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2996-8157","authenticated-orcid":false,"given":"Sophia Caldas Gonzaga","family":"da Costa","sequence":"first","affiliation":[{"name":"Division of General Neurology and Ataxia Unit, Department of Neurology Universidade Federal de S\u00e3o Paulo  Sao Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4565-5898","authenticated-orcid":false,"given":"Fl\u00e1vio Moura","family":"Rezende Filho","sequence":"additional","affiliation":[{"name":"Division of General Neurology and Ataxia Unit, Department of Neurology Universidade Federal de S\u00e3o Paulo  Sao Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00falian Leticia","family":"de Freitas","sequence":"additional","affiliation":[{"name":"Division of General Neurology and Ataxia Unit, Department of Neurology Universidade Federal de S\u00e3o Paulo  Sao Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula Camila Alves","family":"de Assis Pereira Matos","sequence":"additional","affiliation":[{"name":"Division of General Neurology and Ataxia Unit, Department of Neurology Universidade Federal de S\u00e3o Paulo  Sao Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Della\u2010Ripa","sequence":"additional","affiliation":[{"name":"Department of Neurology Universidade de S\u00e3o Paulo  S\u00e3o Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0898-2419","authenticated-orcid":false,"suffix":"Jr","given":"Marcondes Cavalcante","family":"Fran\u00e7a","sequence":"additional","affiliation":[{"name":"Department of Neurology Universidade Estadual de Campinas  Campinas SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Junior","given":"Wilson","family":"Marques","sequence":"additional","affiliation":[{"name":"Department of Neurology Universidade de S\u00e3o Paulo  Ribeir\u00e3o Preto SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana","family":"Santos","sequence":"additional","affiliation":[{"name":"UnIGENe, IBMC \u2010 Institute for Molecular and Cell Biology, i3S \u2010 Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto  Porto Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor Vasconcelos Barros","family":"Cronemberger","sequence":"additional","affiliation":[{"name":"Departamento de Cl\u00ednica M\u00e9dica, Faculdade de Medicina Universidade Federal de Juiz de Fora  Juiz de Fora MG Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6145-9868","authenticated-orcid":false,"given":"Thiago Cardoso","family":"Vale","sequence":"additional","affiliation":[{"name":"Departamento de Cl\u00ednica M\u00e9dica, Faculdade de Medicina Universidade Federal de Juiz de Fora  Juiz de Fora MG Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Kok","sequence":"additional","affiliation":[{"name":"Department of Neurology Universidade de 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Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,4,14]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12021"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000049"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2017.4373"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-123"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/01677063.2017.1322079"},{"issue":"6","key":"e_1_2_10_7_1","first-page":"853","article-title":"A type of congenital ocular motor apraxia presenting jerky head movements","volume":"56","author":"Cogan D","year":"1952","journal-title":"Trans \u2010 Am Acad Ophthalmol Otolaryngol"},{"key":"e_1_2_10_8_1","unstructured":"Ber ILe Chamayou\u00c2 Moreira\u00c1 Rivaud\u2010peS Ber ILe DuA.Cerebellar ataxia with oculomotor apraxia type 1: clinical and 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