CSF and blood levels of GFAP in Alexander disease

Paige L. Jany, Guillermo E. Agosta, William S. Benko, Jens C. Eickhoff, Stephanie R. Keller, Wolfgang Köehler, David Koeller, Soe Mar, Sakkubai Naidu, Jayne Marie Ness, Davide Pareyson, Deborah L. Renaud, Ettore Salsano, Raphael Schiffmann, Julie Simon, Adeline Vanderver, Florian Eichler, Marjo S. van der Knaap, Albee Messing

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


Alexander disease is a rare, progressive, and generally fatal neurological disorder that results from dominant mutations affecting the coding region of GFAP, the gene encoding glial fibrillary acidic protein, the major intermediate filament protein of astrocytes in the CNS. A key step in pathogenesis appears to be the accumulation of GFAP within astrocytes to excessive levels. Studies using mouse models indicate that the severity of the phenotype correlates with the level of expression, and suppression of GFAP expression and/or accumulation is one strategy that is being pursued as a potential treatment. With the goal of identifying biomarkers that indirectly reflect the levels of GFAP in brain parenchyma, we have assayed GFAP levels in two body fluids in humans that are readily accessible as biopsy sites: CSF and blood. We find that GFAP levels are consistently elevated in the CSF of patients with Alexander disease, but only occasionally and modestly elevated in blood. These results provide the foundation for future studies that will explore whether GFAP levels can serve as a convenient means to monitor the progression of disease and the response to treatment.

Original languageEnglish (US)
Article numbere0080-15.2015
Issue number5
StatePublished - 2015


  • Astrocyte
  • Biomarker
  • GFAP

ASJC Scopus subject areas

  • Neuroscience(all)


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