Alpha-fetoprotein, a fascinating protein and biomarker in neurology

J. H. Schieving*, M. de Vries, J. M. G. van Vugt, C. Weemaes, M. van Deuren, J. Nicolai, R. A. Wevers, M. A. Willemsen

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Alpha-fetoprotein (AFP) is present in fetal serum in concentrations up to 5,000,000 mu g/l. After birth, AFP gene expression is turned down with a subsequent fall of the serum concentrations of this albumin-like protein to 'adult values' of circa 0.5-15 mu g/l from the age of 2 years onwards. Irrespective of its assumed important functions, individuals with AFP deficiency appear fully healthy. The other way around, the presence of AFP in the circulation after the first years of life doesn't seem to harm, since individuals with 'hereditary persistence of AFP' are also without clinical abnormalities. During pregnancy, AFP (in maternal serum) has long been recognized as a marker for congenital anomalies of the fetus. Equally well known is AFP as biomarker for hepatocellular carcinoma and some other malignancies. There are at least four neurodegenerative disorders, all inherited as autosomal recessive traits and characterized by the presence of cerebellar ataxia, abnormal ocular movements, and neuropathy, for which an elevated concentration of serum AFP is an important diagnostic biomarker. The availability of a reliable biomarker is not only important during screening or diagnostic processes, but is also relevant for objective follow-up during (future) therapeutic interventions.
Original languageEnglish
Pages (from-to)243-248
JournalEuropean Journal of Paediatric Neurology
Issue number3
Publication statusPublished - May 2014


  • Alpha-fetoprotein (AFP)
  • Diagnostic biomarker
  • AFP deficiency
  • Hereditary persistence of AFP
  • Ataxia Telangiectasia
  • Ataxia with oculomotor apraxia type 1 and 2
  • Mitochondrial disorders

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