Background: Clinical scales and neuroimaging are used to monitor nervous system injury in Wilson's disease, while data on serum markers are scarce.
Objective: To investigate whether serum concentrations of neurofilament light chain (sNfL) correlate with brain injury in Wilson's disease patients.
Methods: In 61 treatment-naïve patients, the Unified Wilson's Disease Rating Scale and a validated semiquantitative brain magnetic resonance imaging scale were compared with concentrations of sNfL.
Results: Concentrations of sNfL were significantly higher in patients with neurological disease compared with patients presenting with other forms (39.7 ± 73.4 pg/mL vs. 13.3 ± 9.2 pg/mL; P < 0.01). Moreover, the sNfL concentration positively correlated with neurological severity scores and with acute and chronic brain damage based on the neuroimaging scale.
Conclusions: Neurofilament light chain concentrations may be used as a marker of brain injury in Wilson's disease, in addition to the clinical and neuroimaging disease severity scales. © 2022 International Parkinson and Movement Disorder Society.
Keywords: Wilson disease; biomarkers; copper; magnetic resonance imaging; neurofilament light chain.
© 2022 International Parkinson and Movement Disorder Society.