Blood Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Candidate Biomarkers in <i>CSF1R</i> -Related Disorder
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.
Authors
- Camille Huiban
- Xavier Ayrignac (ORCID: https://orcid.org/0000-0003-3834-2981)
- Pierre Labauge (ORCID: https://orcid.org/0000-0001-7759-8555)
- Isabelle Le Ber (ORCID: https://orcid.org/0000-0002-2508-5181)
- Fanny Mochel (ORCID: https://orcid.org/0000-0003-3970-3486)
- Hemmo A. F. Yska (ORCID: https://orcid.org/0009-0002-7973-2724)
- Cécilia Marelli
- Sylvain Lehmann (ORCID: https://orcid.org/0000-0001-6117-562X)
Institutions
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- École Pratique des Hautes Études (FR)
- Université de Montpellier (FR)
- Université Paris Cité (FR)
- Sorbonne Université (FR)
- Centre Hospitalier Universitaire de Montpellier (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Pitié-Salpêtrière Hospital (FR)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2026-06-09
- DOI
- https://doi.org/10.1212/nxg.0000000000200407
- Primary Topic
- Autoimmune Neurological Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00