{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T17:41:19Z","timestamp":1776447679296,"version":"3.51.2"},"reference-count":19,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,5,29]]},"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:p>Ataxia with oculomotor apraxia type 2 (AOA2), recently renamed as ATX-SETX, is an autosomal recessive, progressive neurodegenerative disorder belonging to inherited cerebellar ataxias. The pathogenic variants of the <jats:italic>SETX<\/jats:italic> gene have been implicated in ATX-SETX. We report the case of a 21-year-old woman presenting with ataxia, oculomotor apraxia and dystonia. She had elevated serum \u03b1-fetoprotein (AFP), follicle stimulating hormone (FSH) and luteinising hormone (LH) levels and moderate cerebellar atrophy. On further evaluation, she was found to have premature ovarian failure as well. Multiplex ligation-dependent probe amplification detected a heterozygous deletion in exon 6 of the <jats:italic>SETX<\/jats:italic> gene. A combination of cerebellar ataxia, oculomotor apraxia with elevated AFP and cerebellar atrophy are highly suggestive of ATX-SETX. In rare instances, it may be associated with premature ovarian failure with elevated FSH and LH levels, necessitating hormonal survey and fertility evaluation in all patients with ATX-SETX.<\/jats:p>","DOI":"10.1136\/bcr-2021-241767","type":"journal-article","created":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T12:22:57Z","timestamp":1625055777000},"page":"e241767","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Heterozygous deletion in exon 6 of <i>STEX<\/i> gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure"],"prefix":"10.1136","volume":"14","author":[{"given":"Jiwan Shriram","family":"Kinkar","sequence":"first","affiliation":[{"name":"Department of Neurology, Jawaharlal Nehru Medical College, Wardha, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8040-4835","authenticated-orcid":false,"given":"Patel Zeeshan","family":"Jameel","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Jawaharlal Nehru Medical College, Wardha, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Banshi Lal","family":"Kumawat","sequence":"additional","affiliation":[{"name":"Department of Neurology, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priyanka","family":"Kalbhor","sequence":"additional","affiliation":[{"name":"Department of Microbiology, Government Medical College and Hospital, Nagpur, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,6,30]]},"reference":[{"key":"2025082711053985000_14.6.e241767.1","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1007\/s12311-019-01052-2","article-title":"The classification of autosomal recessive cerebellar ataxias: a consensus statement from the Society for research on the cerebellum and ataxias Task force","volume":"18","author":"Beaudin","year":"2019","journal-title":"Cerebellum"},{"key":"2025082711053985000_14.6.e241767.2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh080"},{"key":"2025082711053985000_14.6.e241767.3","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27415"},{"key":"2025082711053985000_14.6.e241767.4","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003435"},{"key":"2025082711053985000_14.6.e241767.5","unstructured":"Moreira M-C , Koenig M . Ataxia with Oculomotor Apraxia Type 2. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews\u00ae. Seattle (WA: University of Washington, Seattle, 1993. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1154\/"},{"key":"2025082711053985000_14.6.e241767.6","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1007\/s12311-013-0463-1","article-title":"Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2","volume":"12","author":"Panouill\u00e8res","year":"2013","journal-title":"Cerebellum"},{"key":"2025082711053985000_14.6.e241767.7","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410440220"},{"key":"2025082711053985000_14.6.e241767.8","doi-asserted-by":"publisher","DOI":"10.1046\/j.1468-1331.2001.00273.x"},{"key":"2025082711053985000_14.6.e241767.9","doi-asserted-by":"crossref","unstructured":"Ataxia KS-H . 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