{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T15:40:10Z","timestamp":1756309210374,"version":"3.44.0"},"reference-count":5,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"abstract":"<jats:p>Ataxia with oculomotor apraxia type 1 (AOA1) is a recently described autosomal-recessive neurodegenerative condition of childhood onset. It is caused by mutations in the <jats:italic>APTX<\/jats:italic> gene, which encodes the protein aprataxin. Clinical features include gait and limb ataxia, dysarthria, oculomotor apraxia, mild peripheral neuropathy and progression of neurological deficits.1 Some patients manifest parkinsonian symptoms or mental retardation, although the latter has been reported predominantly in Japanese patients.2 We report a patient with homozygous deletion of <jats:italic>APTX<\/jats:italic>, who presented with behavioural changes (social withdrawal), and subsequent rapid progression of neurological symptoms associated with severe cognitive decline. We suggest that complete deletion of <jats:italic>APTX<\/jats:italic> is associated with a more severe phenotype than that associated with point mutations.<\/jats:p>","DOI":"10.1136\/bcr.08.2008.0688","type":"journal-article","created":{"date-parts":[[2009,2,2]],"date-time":"2009-02-02T06:49:47Z","timestamp":1233557387000},"page":"bcr0820080688","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit"],"prefix":"10.1136","volume":"2009","author":[{"given":"Grace","family":"Yoon","sequence":"first","affiliation":[{"name":"University of Toronto, 555 University Avenue, Ontario, M5G 1X8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robyn","family":"Westmacott","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children, 555 University Ave, Toronto, Ontario, M5G 1X8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynn","family":"MacMillan","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children, 555 University Ave, Toronto, Ontario, M5G 1X8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nada","family":"Quercia","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children, 555 University Ave, Toronto, Ontario, M5G 1X8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pantelitsa","family":"Koutsou","sequence":"additional","affiliation":[{"name":"The Cyprus Institute of Neurology and Genetics, Nicosia, Nicosia, 1424, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthi","family":"Georghiou","sequence":"additional","affiliation":[{"name":"The Cyprus Institute of Neurology and Genetics, Nicosia, Nicosia, 1424, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyproula","family":"Christodoulou","sequence":"additional","affiliation":[{"name":"The Cyprus Institute of Neurology and Genetics, Nicosia, Nicosia, 1424, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brenda","family":"Banwell","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children, 555 University Ave, Toronto, Ontario, M5G 1X8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,8,9]]},"reference":[{"key":"2025082708094563000_2009.aug09_1.bcr0820080688.1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg283"},{"key":"2025082708094563000_2009.aug09_1.bcr0820080688.2","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1212\/WNL.59.4.590","article-title":"Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations","volume":"59","author":"Shimazaki","year":"2002","journal-title":"Neurology"},{"key":"2025082708094563000_2009.aug09_1.bcr0820080688.3","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1212\/01.WNL.0000137044.06573.46","article-title":"Aprataxin gene mutations in Tunisian families","volume":"63","author":"Amouri","year":"2004","journal-title":"Neurology"},{"key":"2025082708094563000_2009.aug09_1.bcr0820080688.4","doi-asserted-by":"publisher","DOI":"10.1038\/nature05164"},{"key":"2025082708094563000_2009.aug09_1.bcr0820080688.5","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21078"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr.08.2008.0688","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T15:09:53Z","timestamp":1756307393000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr.08.2008.0688"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,9]]},"references-count":5,"alternative-id":["10.1136\/bcr.08.2008.0688"],"URL":"https:\/\/doi.org\/10.1136\/bcr.08.2008.0688","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,8,9]]}}}