Abstract

Background

Morphology builds Wilson’s disease’s clincal basis.

Objectives

To detect and quantify regional morphometric abnormalities, in terms of both volume and shape, in patients with Wilson’s disease.

Methods

Twenty‐seven Wilson’s disease patients and 24 healthy controls were enrolled. Specific brain structures, including the bilateral caudate, putamen, globus pallidus, thalamus, amygdala, hippocampus, red nucleus, and substantia nigra (SN), were automatically extracted from each participant’s T1‐weighted image. Volume abnormalities and correlations with the modified Young scale were investigated. Furthermore, vertex‐based shape analysis was performed to explore region‐specific morphometric abnormalities.

Results

Significant global volume atrophy and local shape abnormalities were detected and quantified in the bilateral caudate, putamen, globus pallidus, thalamus, amygdala, red nucleus, and SN. Morphometric abnormalities of the caudate, putamen, and thalamus were strong, whereas those of the globus pallidus, amygdala, red nucleus, and SN were weaker. No hippocampal abnormalities were observed. The modified Young scale was found to correlate significantly with the volumes of the bilateral putamen and the right globus pallidus. Shape analysis revealed subregion‐specific atrophy of the bilateral caudate and putamen. They were concentrated in the subregions that project to the limbic and executive cortices. Significant region‐specific atrophy was also detected in the bilateral thalamic subregions that project to the primary motor, sensory, and premotor cortices.

Conclusions

We found significant morphometric abnormalities of specific structures of interest in patients with Wilson’s disease, both globally and locally. These morphometric abnormalities may serve as useful imaging biomarkers for Wilson’s disease. © 2019 International Parkinson and Movement Disorder Society

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