Wilson’s disease (WD) is characterized by copper metabolism defects with predominant hepatic or neurological manifestations. To identify imaging biomarkers of subtype differentiation, 38 participants (17 HWD, 10 NWD, 11 controls) underwent 3.0T brain and liver MRI, including liver R2* mapping, proton density fat fraction (PDFF), brain quantitative susceptibility mapping (QSM), and volumetric analysis.
Compared with controls, WD patients showed increased hepatic iron deposition and elevated QSM values in the bilateral caudate and accumbens, along with atrophy in the cerebellum, basal ganglia, thalamus, and brainstem. The caudate uniquely exhibited both iron accumulation and volume loss.
NWD patients demonstrated more pronounced hepatic iron overload (segments V–VII), higher basal ganglia QSM values, and broader brain atrophy than HWD. Hepatic iron levels positively correlated with neurological severity scores in NWD. Combined imaging parameters achieved strong discrimination between NWD and HWD (AUC ≈ 0.92).
These findings suggest that, beyond copper accumulation, secondary iron dysregulation contributes to neurodegeneration and subtype differences in WD. Multimodal MRI provides quantitative biomarkers for disease stratification and severity assessment.
The work entitled “A multimodal neuroimaging and hepatic imaging analysis for hepatic-type and neurological-type Wilson’s disease” was published on Metabolism and Target Organ Damage (published on Dec. 25, 2025).
DOI:10.20517/mtod.2025.173