Work

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

Year: 2019

Type: article

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: ), 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.

Source: PubMed Central

DOI: 10.7916/tohm.v0.708

Authors: Paucar, Martin, Taylor, Alexander M.R., Hadjivassiliou, Marios, Fogel, Brent L., Svenningsson, Per

Institutions: Karolinska University Hospital, Karolinska Institutet, University of Birmingham, Royal Hallamshire Hospital, University of California, Los Angeles

Language: English

Topic: Genetic Neurodegenerative Diseases

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2987533705

FWCI: 0.239

Cites: 30

Cited by: 8

Related to: 10