About this item:

673 Views | 775 Downloads

Author Notes:

Email Address: Albee Messing : amessing@wisc.edu

A.V., F.E., M.S.v.d.K., and A.M. designed research; P.L.J. and A.M. performed research

G.E.A., W.S.B., S.R.K., W.K., D.K., S.M., S.N., J.M.N., D.P., D.L.R., E.S., R.S., J.S., A.V., F.E., and M.S.v.d.K. contributed unpublished reagents/analytic tools; P.L.J., J.C.E., M.S.v.d.K.

A.M. analyzed data; A.M. wrote the paper.


Research Funding:

National Institutes of Health through the Grants NS060120, NS42803, and HD076892 (A.M.); HD003352 (P30 Core Grant to the Waisman Center); UL1TR000427 (Clinical and Translational Science Award to the School of Medicine and Public Health, University of Wisconsin, Madison).


  • astrocyte
  • biomarker
  • GFAP

CSF and Blood Levels of GFAP in Alexander Disease

Show all authors Show less authors


Journal Title:



Volume 2, Number 5


Type of Work:

Article | Final Publisher PDF


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.

Copyright information:

© 2015 Jany et al.

This is an Open Access work distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/).

Creative Commons License

Export to EndNote