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Case report
Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure
  1. Jiwan Shriram Kinkar1,
  2. Patel Zeeshan Jameel2,
  3. Banshi Lal Kumawat3 and
  4. Priyanka Kalbhor4
  1. 1Department of Neurology, Jawaharlal Nehru Medical College, Wardha, Maharashtra, India
  2. 2Department of Paediatrics, Jawaharlal Nehru Medical College, Wardha, Maharashtra, India
  3. 3Department of Neurology, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, India
  4. 4Department of Microbiology, Government Medical College and Hospital, Nagpur, Maharashtra, India
  1. Correspondence to Dr Patel Zeeshan Jameel; zeeshan1311{at}gmail.com

Abstract

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.

  • genetic screening / counselling
  • neuro genetics
  • neuroendocrinology
  • brain stem / cerebellum

https://doi.org/10.1136/bcr-2021-241767

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    Footnotes

    • Contributors JSK and PZJ were major contributors in writing this manuscript. JSK and BLK were majorly involved in the management of the patient. PK conducted a thorough review of the literature and corrected the final manuscript. JSK and PZJ critically reviewed the abstract section as well as the final manuscript. All the authors have read and approved the final manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer-reviewed.