Delayed diagnosis of ataxia with oculomotor apraxia type 2 in a Peruvian patient, a case report

Clin Neurol Neurosurg. 2025 Apr:251:108823. doi: 10.1016/j.clineuro.2025.108823. Epub 2025 Mar 4.

Abstract

Introduction: Ataxia with oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia characterized by progressive cerebellar ataxia, sensorimotor peripheral neuropathy, and occasional oculomotor apraxia.

Case report: A 50-year-old male with a history of orthopedic shoe use since childhood presented with slowly progressive ataxia and neuropathy. Laboratory tests showed elevated serum alpha-fetoprotein levels and increased total cholesterol. Clinical whole genome sequencing identified a c.4853C > G (p.Ser1618Ter) homozygous pathogenic variant in SETX.

Conclusion: The case highlights the challenges identifying rare disorders like AOA2 due to limited access to genetic testing and socioeconomic and healthcare barriers.

Keywords: AOA2; Ataxia with oculomotor apraxia; Recessive ataxia; SETX; Senataxin.

Publication types

  • Case Reports

MeSH terms

  • Apraxias* / diagnosis
  • Apraxias* / genetics
  • Cerebellar Ataxia* / diagnosis
  • Cerebellar Ataxia* / genetics
  • DNA Helicases
  • Delayed Diagnosis*
  • Humans
  • Male
  • Middle Aged
  • Multifunctional Enzymes / genetics
  • RNA Helicases / genetics

Substances

  • Multifunctional Enzymes
  • SETX protein, human
  • RNA Helicases
  • DNA Helicases