Plasma Neurofilament Light as a Biomarker of Neurological Involvment in Wilson’s Disease,

Publication: Movement Disorders

Samuel Shribman, Carolin Heller, Maggie Burrows, Amanda Heslegrave,Imogen Swift, Martha S. Foiani, Godfrey T. Gillett, Emmanuel A. Tsochatzis, James B. Rowe et al

20 October 2020


Outcomes are unpredictable for neurological presentations of Wilson’s disease (WD). Dosing regimens for chelation therapy vary and monitoring depends on copper indices, which do not reflect end‐organ damage. The objective was to identify a biomarker for neurological involvement in WD.

Unlike copper indices, neurofilament light (NfL) concentrations were higher in neurological than hepatic presentations. They were also higher in those with active neurological disease when controlling for severity and correlated with neurological examination subscores in stable patients.

NfL is a biomarker of neurological involvement with potential use in guiding chelation therapy and clinical trials for novel treatments.

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