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

• Tác giả: Jeny Bazalar-Montoya, Krista Bluske, Mario Cornejo-Olivas, Leonardo Cruz-Criollo, Wilhelm Dávila-Salazar, Akanchha Kesari, Andrea Rivera-Valdivia, Elison Sarapura-Castro, Ryan J Taft, Julie Taylor, Erin Thorpe
• Ngôn ngữ: eng
• Ký hiệu phân loại: 614.45 Patient isolation
• Thông tin xuất bản: Netherlands : Clinical neurology and neurosurgery , 2025
• Bộ sưu tập: NCBI
• ID: 695538

Tóm tắt

 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.