Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease

M Kyllerman; L Rosengren; L-M Wiklund; E Holmberg

doi:10.1055/s-2005-872876

Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease

Neuropediatrics. 2005 Oct;36(5):319-23. doi: 10.1055/s-2005-872876.

Authors

M Kyllerman¹, L Rosengren, L-M Wiklund, E Holmberg

Affiliation

¹ Department of Paediatric Neurology, Queen Silvia Children's Hospital, Göteborg, Sweden. marten.kyllerman@vgregion.se

PMID: 16217707
DOI: 10.1055/s-2005-872876

Abstract

GFAP levels in the CSF were highly elevated in three genetically confirmed cases of Alexander disease clinically conforming with infantile, early and late juvenile forms. No other CSF abnormalities were detected. Assay of CSF-GFAP may prove to be a rapid and cost-effective screening test in clinical variants of Alexander disease and an indicator of GFAP gene mutations.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Albumins / cerebrospinal fluid
Alexander Disease / cerebrospinal fluid*
Alexander Disease / genetics*
Alexander Disease / pathology
Brain / metabolism
Brain / pathology
Child
DNA Mutational Analysis / methods
Female
Glial Fibrillary Acidic Protein / cerebrospinal fluid*
Glial Fibrillary Acidic Protein / genetics*
Humans
Magnetic Resonance Imaging / methods
Male
Mutation
S100 Proteins / cerebrospinal fluid
Tomography, X-Ray / methods

Substances

Albumins
Glial Fibrillary Acidic Protein
S100 Proteins