TY - JOUR T1 - Heterozygous deletion in exon 6 of <em>STEX</em> gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure JF - BMJ Case Reports JO - BMJ Case Reports DO - 10.1136/bcr-2021-241767 VL - 14 IS - 6 SP - e241767 AU - Jiwan Shriram Kinkar AU - Patel Zeeshan Jameel AU - Banshi Lal Kumawat AU - Priyanka Kalbhor Y1 - 2021/06/01 UR - http://casereports.bmj.com/content/14/6/e241767.abstract N2 - 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 SETX 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 α-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 SETX 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. ER -