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Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature
Martin Paucar1,2, Alexander M R Taylor3, Marios Hadjivassiliou4
1Department of Neurology, Karolinska University Hospital, Stockholm, SE.
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.
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