Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive cerebellar ataxia (ARCA) caused by loss-of-function mutations in the SETX gene. AOA2 is among the most frequently diagnosed non-Friedreich ARCAs in individuals across Europe, which makes it important to understand its clinical feature and laboratory findings for accurate diagnosis and patient care. This disorder typically presents during adolescence with progressive cerebellar ataxia, sensorimotor neuropathy, tremor, oculomotor abnormalities, and may also lead to infertility. Key diagnostic markers, prominent in more than 95% of patients, are elevated alpha-fetoprotein (AFP) levels and cerebellar atrophy – most commonly, in the vermis and anterior lobe of the cerebellum, as observed on brain Magnetic Resonance Imaging (MRI); however, definitive diagnosis is made based on genetic testing. Currently, no disease-modifying therapy exists, and disease management focuses on symptomatic treatment and rehabilitation. This article presents a case of a 29-year-old female patient with AOA2, whose diagnosis was delayed due to initially low AFP levels that became elevated only after the disease progressed. Moreover, the patient experienced unusually rapid disease deterioration, especially after contracting COVID-19 – within 12 years of symptom onset, she became wheelchair-dependent. This case illustrates the complexity of AOA2 diagnosis when early biomarkers or definitive genetic confirmation are absent, thus highlighting the value of repeated AFP evaluation over time.
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