Hepatolenticular Degeneration Section
SHAO Jie, YUAN Xiaofang, WANG Shijing, MING Qingqing, LIN Jing, YANG Caiyu, GAO Tian, SHI Yongguang, YU Xu’en
Objective To quantitatively analyze the volumetric characteristics of each subregion of the basal ganglia in patients with hepatolenticular degeneration (also known as Wilson disease ,WD) using brain magnetic resonance imaging (MRI) and brain segmentation technology, to explore the specific imaging findings of choreiform symptoms, and to assess the clinical value of caudate nucleus atrophy as an imaging indicator for this symptom. Methods A retrospective analysis was performed for 40 WD patients with choreiform symptoms and 40 patients without choreiform symptoms from June 2023 to June 2025, and clinical indicators were compared between the two groups. In addition, the two groups were compared in terms of the volume of the basal ganglia after estimated total intracranial volume (eTIV) correction, and the correlation between the volume of differential brain regions and the chorea subscale score of Unified Wilson's Disease Rating Scale (UWDRS) was explored. Results There were no significant differences in baseline data between the two groups. UWDRS scores showed that the choreiform group had a higher neurological function score (P=0.005), a significantly higher chorea subscale score (P<0.01), and a lower hepatic function score (P<0.01). The choreiform group had a significantly smaller caudate nucleus volume than the non-choreiform group (P<0.001), suggesting severe subregional atrophy, and in contrast, the choreiform group had a significant increase in thalamus volume (P=0.002). Caudate nucleus volume ratio was significantly negatively correlated with chorea subscale score in the choreiform group (P<0.001). Conclusion Caudate nucleus atrophy is a specific imaging finding of choreiform symptoms in WD patients, and a quantitative analysis of caudate nucleus volume is expected to become an objective imaging indicator for assessing the severity of choreiform symptoms and monitoring disease progression in WD.