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- W4281782811 abstract "Background Serum and urine copper levels are used to monitor chelation therapy for Wilson’s disease (WD) but do not reflect neurological involvement. Biomarkers of end-organ damage are needed to optimise chelation therapy and prepare for clinical trials for gene therapy. Methods We measured neurofilament light (NfL) levels in plasma samples, Unified WD Rating Scale (UWDRS) scores and brain volumes on T1-weighted MRI at baseline visits for a longitudinal, observational study. Participants were divided into neurological (n=25) and hepatic (n=15) groups according to UWDRS neurological examination (UWDRS-N) scores. Those with new diagnoses (n=2) or recent neurological dete- rioration associated with non-adherence (n=3) were subcategorised as having active disease. Plasma NfL levels were measured in age-matched healthy controls (n=38) for comparison. Results Plasma NfL levels were higher in neurological compared with hepatic and healthy control groups (8.6 vs 7.6 vs 7.6 ng/L, p=0.046) and higher in neurological cases with active disease (22.2 vs 8.3 ng/L, p=0.004). In cases without active disease, they correlated with UWDRS-N scores (p=0.003) and cortical grey matter (p<0.001) but not subcortical grey matter (p=0.071) or white matter volumes (p=0.895). Conclusions Plasma NfL is a promising biomarker for neurological involvement that, in a small cohort, appears to be associated with neurological disease activity and clinical severity and reflects neuroaxonal injury in cortical grey matter. s.shribman@ucl.ac.uk" @default.
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- W4281782811 date "2022-05-27" @default.
- W4281782811 modified "2023-09-27" @default.
- W4281782811 title "Plasma neurofilament light levels as a novel biomarker for neurological involve- ment in Wilson’s disease" @default.
- W4281782811 doi "https://doi.org/10.1136/jnnp-2022-abn.17" @default.
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