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© 2019. This work is published under https://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

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.

Details

Title
Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature
Author
Paucar, Martin; Alexander M.R. Taylor; Hadjivassiliou, Marios; Fogel, Brent L; Svenningsson, Per
Section
Case Reports
Publication year
2019
Publication date
2019
Publisher
Ubiquity Press
ISSN
21608288
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
3095114833
Copyright
© 2019. This work is published under https://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.