Plasma concentrations of glial fibrillary acidic protein, neurofilament light, and tau in Alexander disease.

ABSTRACT:

Introduction

Alexander disease (AxD) is a rare leukodystrophy caused by dominant gain-of-function mutations in the gene encoding the astrocyte intermediate filament, glial fibrillary acidic protein (GFAP). However, there is an urgent need for biomarkers to assist in monitoring not only the progression of disease but also the response to treatment. GFAP is the obvious candidate for such a biomarker, as it is measurable in body fluids that are readily accessible for biopsy, namely cerebrospinal fluid and blood. However, in the case of ASOs, the treatment that is furthest in development, GFAP is the target of therapy and presumably would go down independent of disease status. Hence, there is a critical need for biomarkers that are not directly affected by the treatment strategy.

Me

SUBMITTER: Ashton NJ 

PROVIDER: S-EPMC11305938 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature