Quantitative susceptibility mapping shows higher deep gray matter alterations in Wilson's disease compared to healthy controls

A meta-analysis searched PubMed, Embase, and Web of Science up to September 2025 to assess QSM alterations in deep gray matter. The study included 325 patients with Wilson's disease (WD) and 254 healthy controls (HCs). QSM measures magnetic susceptibility, which reflects iron and myelin content, often altered in neurodegenerative conditions.

In neurological WD patients, susceptibility was significantly higher than in HCs across all examined deep gray matter structures. Specifically, the caudate nucleus showed a mean difference (MD) of 33.92 (95% CI: 18.14-49.70, p < .001). The putamen exhibited an MD of 48.42 (95% CI: 29.66-67.17, p < .001), while the globus pallidus showed an MD of 62.24 (95% CI: 39.74-84.73, p < .001). The thalamus, red nucleus, and dentate nucleus also demonstrated statistically significant increases in susceptibility compared to HCs.

When comparing onset types, neurological-onset WD patients displayed higher susceptibility in the caudate, putamen, and thalamus compared to hepatic-onset WD patients. Conversely, hepatic-onset WD patients showed milder increases in susceptibility in the globus pallidus, red nucleus, and dentate nucleus relative to HCs. No adverse events, serious adverse events, or discontinuations were reported, as tolerability data were not provided. The study did not report funding sources or conflicts of interest.

Limitations include the observational nature of the imaging data, which precludes causal inference regarding disease progression. The absence of reported safety data and the heterogeneity of clinical presentations in WD warrant caution. While QSM alterations correlate with disease phenotype, the clinical relevance for routine monitoring or therapeutic decision-making remains uncertain. Further prospective studies are needed to establish the role of QSM in Wilson's disease management.