Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature

  • Martin Paucar
  • Alexander M.R. Taylor
  • Marios Hadjivassiliou
  • Brent L. Fogel
  • Per Svenningsson


Background: Ataxias represent a challenging group of disorders due to significant clinical overlap. Here, we present a patient with early-onset progressive ataxia, polyneuropathy and discuss how elevation of alpha fetoprotein (AFP) narrows the differential diagnosis.

Case report: Ataxia, polyneuropathy, and mild elevation of AFP are features compatible with ataxia with oculomotor apraxia type 2 (AOA2) but also with ataxia with oculomotor apraxia type 4 (AOA4). A genetic analysis demonstrated biallelic mutations in senataxin (SETX), confirming the diagnosis of AOA2.

Discussion: Mild elevation of AFP is found in patients with AOA2 and AOA4, and higher levels are commonly seen in ataxia-telangiectasia. AFP is a useful diagnostic tool but not a biomarker for disease progression in AOA2.

Keywords: Ataxia, alpha-fetoprotein, polyneuropathy, senataxin, cerebellar atrophy

Citation: Paucar M, Taylor AMR, Hadjivassiliou M, Fogel BL, Svenningsson P. Progressive ataxia with elevated alpha-fetoprotein: Diagnostic issues and review of the literature. Tremor Other Hyperkinet Mov. 2019; 9. doi: 10.7916/tohm.v0.708

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