Neurodegeneration in Hepatic and Neurologic Wilson's Disease

Abstract

Clinical presentation of Wilson disease (WD) includes hepatic and neurologic manifestations. This study compares subcortical brain regions by magnetic resonance imaging in patients with WD and without neurological symptoms. Distinct atrophy affecting the basal ganglia, accumbens, and hippocampus was present in neurological WD. Cerebellar atrophy was observed in hepatic WD without neurological symptoms.

FIG. 1

(A) Subcortical volumetric data expressed as z scores for specified subcortical brain regions in patients with hepatic (full circles) or neurologic WD (open circles). Regional medians for each group are marked by horizontal lines. The dashed line at a z score of –2.0 serves as a visual reference for severe atrophy. *Statistically significant differences between hepatic and neurological WD. (B) Individual T1‐weighted 3‐dimensional magnetization‐prepared rapid gradient echo image of representative patients with hepatic WD, neurological WD, and a healthy participant and superimposed segmented areas of the caudate (turquoise), putamen (pink), globus pallidus (blue), thalamus (green), cerebellar gray matter compartment (orange), and cerebellar white matter compartment (yellow). Marked volume reduction can be inferred from smaller colored areas in the cerebellar white compartment and the cerebellar cortex from both patients with WD. In addition, the areas representing the putamen and the caudate of the patient with neurological WD are markedly reduced as an indicator of significant volume reduction in the respective brain regions. The area of the MCP overlaps entirely with the cerebellar white matter compartment as part of it and hence was not separately delineated. Abbreviation: SCP, superior cerebellar peduncle.