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

Cruz-Criollo L.; Dávila-Salazar W.; Sarapura-Castro E.; Rivera-Valdivia A.; Bazalar-Montoya J.; Bluske K.; Taylor J.; Thorpe E.; Kesari A.; Taft R.J.; Cornejo-Olivas M. · Clinical Neurology and Neurosurgery (2025) · DOI: 10.1016/j.clineuro.2025.108823

Resumen

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.

Instituciones: Universidad Científica del Sur; Universidad de Piura