A recent study, coordinated by Professor Charlotte Teunissen and neurologist Nicole Wolf of Amsterdam Neuroscience, Amsterdam UMC, conducted a retrospective study comparing neurofilament light chain and glial fibrillary acidic protein levels in the CSF and blood of patients with metachromatic leukodystrophy. Their study indicates that both the proteins may be considered as a non-invasive biomarker for clinical phenotype and that neurofilament light chain might enable neurologists to make a better informed treatment decision. This study was published in the journal Brain. 

Metachromatic Leukodystrophy

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease. Patients with MLD show severe neurological deterioration characterized by loss of all motor and communication skills and eventually premature death. Evaluation of treatment suitability and monitoring of therapeutic effects in both clinical and research setting require reliable biomarkers. Therefore, the main objective of the study was to determine the potential of neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) levels in blood for MLD disease activity.

Proteins as potential biomarkers

The study compared CSF and blood samples of 40 MLD patients between the ages of 0 and 42 with 38 healthy children and 38 healthy adults.  The blood NfL levels at diagnoses were significantly increased in both pre-symptomatic as symptomatic patients. The GFAP levels were only increased in symptomatic patients. Next to this, higher blood NfL and GFAP levels at diagnoses were associated with rapid disease progression in late-infantile and early juvenile patients. This study showed that both proteins hold promise as biomarkers for MLD disease stages in both clinical and research setting.

This study used a combination of extensive cross-sectional and longitudinal phenotype data in a relatively large MDL cohort. Important to notice is that both biomarkers require pediatric reference values, given that their levels first decrease before increasing with advancing age. The outcome of this study might help neurologists to make a better-informed treatment decision.

Read the publication in Brain: Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy