Compares biomarkers in CSF1R-RD patients, indicating potential for disease monitoring.
Colony-stimulating factor receptor 1-related disorder (CSF1R-RD) is an underrecognized, adult-onset genetic leukodystrophy with a devastating clinical course. Disease monitoring is critical as patients with CSF1R-RD can benefit from hematopoietic stem cell transplantation. Here, we aimed to compare blood neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) levels between patients with CSF1R-RD and those with alternative diagnoses and to correlate blood biomarkers values with clinical severity.
No takes yet. Share an insight, caveat, or question.
Ayrignac et al. (2026) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: