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

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, polyneuropa...

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Autores principales: Paucar, Martin, Taylor, Alexander M.R., Hadjivassiliou, Marios, Fogel, Brent L., Svenningsson, Per
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790008/
https://www.ncbi.nlm.nih.gov/pubmed/31656689
http://dx.doi.org/10.7916/tohm.v0.708
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author Paucar, Martin
Taylor, Alexander M.R.
Hadjivassiliou, Marios
Fogel, Brent L.
Svenningsson, Per
author_facet Paucar, Martin
Taylor, Alexander M.R.
Hadjivassiliou, Marios
Fogel, Brent L.
Svenningsson, Per
author_sort Paucar, Martin
collection PubMed
description 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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spelling pubmed-67900082019-10-25 Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature Paucar, Martin Taylor, Alexander M.R. Hadjivassiliou, Marios Fogel, Brent L. Svenningsson, Per Tremor Other Hyperkinet Mov (N Y) Case Reports 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. Columbia University Libraries/Information Services 2019-10-10 /pmc/articles/PMC6790008/ /pubmed/31656689 http://dx.doi.org/10.7916/tohm.v0.708 Text en © 2019 Paucar et al. https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommercial–No Derivatives License, which permits the user to copy, distribute, and transmit the work provided that the original authors and source are credited; that no commercial use is made of the work; and that the work is not altered or transformed.
spellingShingle Case Reports
Paucar, Martin
Taylor, Alexander M.R.
Hadjivassiliou, Marios
Fogel, Brent L.
Svenningsson, Per
Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature
title Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature
title_full Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature
title_fullStr Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature
title_full_unstemmed Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature
title_short Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature
title_sort progressive ataxia with elevated alpha-fetoprotein: diagnostic issues and review of the literature
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790008/
https://www.ncbi.nlm.nih.gov/pubmed/31656689
http://dx.doi.org/10.7916/tohm.v0.708
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