Blood Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Candidate Biomarkers in CSF1R-Related Disorder

Blood levels of neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) are elevated in patients with CSF1R-related leukodystrophy (CSF1R-RD), a rare adult-onset leukodystrophy characterized by progressive neurodegeneration. Both biomarkers correlate with motor severity, while GFAP also reflects cognitive and anxiety measures. These findings support the potential of blood NfL and GFAP as biomarkers for monitoring disease progression in CSF1R-RD.