{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T22:21:31Z","timestamp":1788992491191,"version":"build-2803163510"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,5,27]],"date-time":"2014-05-27T00:00:00Z","timestamp":1401148800000},"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":[[2014,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ataxia with oculomotor apraxia type 2 (<jats:styled-content style=\"fixed-case\">AOA<\/jats:styled-content>2) is an inherited disorder caused by mutations within both alleles of the senataxin gene. First symptoms are usually recognized before the age of 30. Unlike several other autosomal recessive cerebellar ataxia syndromes, levels of alpha\u2010fetoprotein are nearly always elevated in <jats:styled-content style=\"fixed-case\">AOA<\/jats:styled-content>2 and thus narrowing down the differential diagnosis list. We present 3 video cases illustrating and expanding the clinical spectrum of <jats:styled-content style=\"fixed-case\">AOA<\/jats:styled-content>2, with 1 case bearing a novel mutation with cervical dystonia as the first symptom, the absence of neuropathy, and a disease onset beyond the age of 40. Furthermore, all patients were assessed by oculographic analysis, which revealed distinct patterns of oculomotor abnormalities. The clinical spectrum of <jats:styled-content style=\"fixed-case\">AOA<\/jats:styled-content>2 might be even broader than previously described in larger series. Oculography might be a useful tool to detect subclinical oculomotor apraxia in this disorder.<\/jats:p>","DOI":"10.1002\/mdc3.12021","type":"journal-article","created":{"date-parts":[[2014,5,27]],"date-time":"2014-05-27T02:52:42Z","timestamp":1401159162000},"page":"106-109","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2"],"prefix":"10.1002","volume":"1","author":[{"given":"Florian","family":"Brugger","sequence":"first","affiliation":[{"name":"Movement Disorders Center of Eastern Switzerland Department of Neurology Kantonsspital St.Gallen St.Gallen Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Sch\u00fcpbach","sequence":"additional","affiliation":[{"name":"Movement Disorders Center Department of Neurology University Hospital Berne University of Berne Berne 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