{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T22:21:30Z","timestamp":1788992490628,"version":"build-2803163510"},"reference-count":18,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2017,11,5]]},"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>A 23-year-old woman had presented initially to a podiatrist complaining of poorly fitting shoes during her adolescence. After extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2. This is a progressive autosomal recessive ataxia associated with cerebellar atrophy, peripheral neuropathy and an elevated serum \u03b1-fetoprotein. Within Europe, it is the most frequent autosomal recessive ataxia after Friedreich\u2019s ataxia and is due to mutations in the senataxin (<jats:italic>SETX<\/jats:italic>) gene. The age of onset is approximately 15 years.<\/jats:p>\n               <jats:p>The diagnosis of oculomotor apraxia type 2 is often challenging. We provide a framework for assessing a young ataxic patient with or without oculomotor apraxia and review clues that will aid diagnosis. The prognosis, level of disability, cancer and immunosuppression risk all markedly differ between the conditions. Patients and their families need the correct diagnosis for genetic counselling, management and long-term surveillance with appropriate subspecialty services.<\/jats:p>","DOI":"10.1136\/practneurol-2017-001711","type":"journal-article","created":{"date-parts":[[2017,12,6]],"date-time":"2017-12-06T20:40:29Z","timestamp":1512592829000},"page":"52-56","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":8,"title":["Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy"],"prefix":"10.1136","volume":"18","author":[{"given":"Tahira N","family":"Choudry","sequence":"first","affiliation":[{"name":"Department of Neurology, John Radcliffe Hospital, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Hilton-Jones","sequence":"additional","affiliation":[{"name":"Department of Neurology, John Radcliffe Hospital, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graham","family":"Lennox","sequence":"additional","affiliation":[{"name":"Department of Neurology, John Radcliffe Hospital, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Reta Lila Weston Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2017,12,6]]},"reference":[{"key":"2025090411195976000_18.1.52.1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp211"},{"key":"2025090411195976000_18.1.52.2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh080"},{"key":"2025090411195976000_18.1.52.3","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/humu.21650","article-title":"A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia","volume":"33","author":"Al Tassan","year":"2012","journal-title":"Hum Mutat"},{"key":"2025090411195976000_18.1.52.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2006.02.007"},{"key":"2025090411195976000_18.1.52.5","doi-asserted-by":"publisher","DOI":"10.1038\/ng1303"},{"key":"2025090411195976000_18.1.52.6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu190"},{"key":"2025090411195976000_18.1.52.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2011.04.026"},{"key":"2025090411195976000_18.1.52.8","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1007\/s10072-015-2119-z","article-title":"Ataxia with oculomotor apraxia type 2: not always an easy diagnosis","volume":"36","author":"Mignarri","year":"2015","journal-title":"Neurol Sci"},{"key":"2025090411195976000_18.1.52.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.005"},{"key":"2025090411195976000_18.1.52.10","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000030"},{"key":"2025090411195976000_18.1.52.11","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199610173351601"},{"key":"2025090411195976000_18.1.52.12","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg283"},{"key":"2025090411195976000_18.1.52.13","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199909)46:3<287::AID-ANA3>3.0.CO;2-0"},{"key":"2025090411195976000_18.1.52.14","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.170522"},{"key":"2025090411195976000_18.1.52.15","doi-asserted-by":"publisher","DOI":"10.1152\/jn.00721.2010"},{"key":"2025090411195976000_18.1.52.16","first-page":"169","article-title":"Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals","volume":"82","author":"Woods","year":"1992","journal-title":"Q J Med"},{"key":"2025090411195976000_18.1.52.17","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi027"},{"key":"2025090411195976000_18.1.52.18","doi-asserted-by":"publisher","DOI":"10.1086\/301706"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/practneurol-2017-001711","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T18:22:10Z","timestamp":1757010130000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/practneurol-2017-001711"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,6]]},"references-count":18,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2018,1,16]]},"published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10.1136\/practneurol-2017-001711"],"URL":"https:\/\/doi.org\/10.1136\/practneurol-2017-001711","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"value":"1474-7758","type":"print"},{"value":"1474-7766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,12,6]]}}}