Related Experiment Video
Updated: Apr 11, 2026

Dynamic Visual Tests to Identify and Quantify Visual Damage and Repair Following Demyelination in Optic Neuritis Patients
Published on: April 14, 2014
Delayed diagnosis of ataxia with oculomotor apraxia type 2 in a Peruvian patient, a case report
Leonardo Cruz-Criollo1, Wilhelm Dávila-Salazar2, Elison Sarapura-Castro3
1Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru; Department of Neurology, University of Iowa Healthcare, Iowa City, IA, United States.
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.
More Related Videos
Related Concept Videos
Visual Agnosia
Prosopagnosia
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
Aneurysm II: Clinical Manifestations and Diagnostic Studies

