Title Diagnostic challenges of ataxia with oculomotor apraxia type 2 (AOA2): a clinical case presentation with literature review
Translation of Title Sunkumai diagnozuoti 2 tipo ataksiją su okulomotorine apraksija: klinikinio atvejo pristatymas ir literatūros apžvalga.
Authors Galinytė, Greta ; Baranauskienė, Gintarė ; Kaladytė Lokominienė, Rūta
DOI 10.15388/NS.2025.29.103.7
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Is Part of Neurologijos seminarai.. Vilnius : Vilniaus universiteto leidykla. 2025, vol. 29, no. 1(103), p. 86-96.. ISSN 1392-3064. eISSN 2424-5917
Keywords [eng] Ataxia with Oculomotor Apraxia Type 2 ; AOA2 ; ARCA ; SETX gene ; cerebellar atrophy ; alpha- fetoprotein
Abstract [eng] 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, oculo- motor 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.
Published Vilnius : Vilniaus universiteto leidykla
Type Journal article
Language English
Publication date 2025
CC license CC license description