{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:42:25Z","timestamp":1786650145708,"version":"build-2736575974"},"reference-count":12,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Ataxia, although rare, can be a symptom of many debilitating movement disorders. Hereditary ataxias are one subset of this condition and manifest when there is a genetic abnormality involved. Ataxia oculomotor apraxia type 1 (AOA1), an autosomal recessive ataxia, results from a mutation on the\n                      <jats:italic toggle=\"yes\">aprataxin<\/jats:italic>\n                      gene (APTX). We characterized a novel homozygous deletion mutation (IVS4-12delT) on the APTX gene in a 14-year-old male born to consanguineous parents. This case report emphasizes the importance of investigating and increasing awareness of novel genetic mutations in order to help diagnose and further classify hereditary ataxias.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/0972-2327.112495","type":"journal-article","created":{"date-parts":[[2013,5,24]],"date-time":"2013-05-24T04:37:35Z","timestamp":1369370255000},"page":"269-271","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene"],"prefix":"10.4103","volume":"16","author":[{"given":"Abdul Qayyum","family":"Rana","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osama A.","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raza","family":"Akthar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-33-20260109","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1097\/WCO.0b013e32834875ba","article-title":"Update on degeneration ataxias","volume":"24","author":"Klockgether","year":"2011","journal-title":"Curr Opin Neurology"},{"key":"R2-33-20260109","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","article-title":"Friedreich\u2019s ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion","volume":"271","author":"Campuzano","year":"1996","journal-title":"Science"},{"key":"R4-33-20260109","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1038\/ng1001-184","article-title":"Early-onset ataxia with ocular motor apraxia and 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Sci"},{"key":"R11-33-20260109","doi-asserted-by":"crossref","first-page":"2118","DOI":"10.1002\/humu.21464","article-title":"A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents","volume":"32","author":"Crimella","year":"2011","journal-title":"Hum Mutat"},{"key":"R12-33-20260109","doi-asserted-by":"crossref","first-page":"2761","DOI":"10.1093\/brain\/awg283","article-title":"Cerebellar ataxia with oculomotor apraxia type 1: Clinical and genetic studies","volume":"126","author":"Le Ber","year":"2003","journal-title":"Brain"},{"key":"R13-33-20260109","doi-asserted-by":"crossref","first-page":"2875","DOI":"10.1074\/jbc.271.6.2875","article-title":"Molecular basis of genetic instability of triplet repeats","volume":"271","author":"Wells","year":"1996","journal-title":"J Biol Chem"}],"container-title":["Annals of Indian Academy of 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