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.
Alexander disease - GFAP - CSF analysis