Objective To investigate the risk factors for abnormal cardiac function in patients with hepatolenticular degeneration （also known as Wilson disease ，WD） using cardiac magnetic resonance imaging （CMR）， and to identify indicators with a value for early diagnosis. Methods Patients diagnosed with WD were randomly selected to undergo CMR examination， and based on CMR findings， they were divided into abnormal group and normal group. A univariate analysis was used to obtain potential risk factors， then a multivariate logistic regression analysis was performed for variables with a significant difference， and finally the receiver operating characteristic （ROC） curve analysis was performed for the independent risk factors identified. Results A total of 42 WD patients were enrolled， with 21 in the abnormal CMR group and 21 in the normal CMR group. Compared with the normal CMR group， the abnormal CMR group had a significantly higher age and significantly higher levels of total bilirubin， serum copper， and peak 24-hour urinary copper during treatment. The multivariate Logistic regression analysis showed that white blood cell count （WBC） （OR=2.927， 95%CI 1.127‒7.839， P=0.028）， serum copper（OR=3.822， 95%CI 1.108‒13.178， P=0.034）， and type Ⅳ collagen （OR=1.097， 95%CI 1.011‒1.191，P=0.027） were independent risk factors for CMR abnormalities in WD patients. The ROC curve analysis showed that among the above three indicators used alone， serum copper had the highest diagnostic value with an area under the ROC curve （AUC） of 0.713， followed by WBC（AUC=0.651） and type Ⅳ collagen （AUC=0.644）， and the combination of these three indicators had significantly higher diagnostic efficacy （AUC=0.869）. Conclusion Serum copper is the single indicator with the highest diagnostic efficacy for CMR abnormalities in WD patients， but the combination of serum copper， WBC， and type Ⅳ collagen has a significantly better diagnostic value in identifying abnormal cardiac function in WD patients.

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.

Objective To investigate the cranial magnetic resonance imaging （MRI） features of patients with hepatolenticular degeneration （also known as Wilson disease，WD） and epilepsy， and to identify the neuroimaging risk factors for seizures in WD patients. Methods A total of 69 WD patients with epilepsy who were hospitalized in Affiliated Hospital of Neurology Institute， Anhui University of Chinese Medicine， from January 2018 to November 2025 were enrolled as study group， while 80 WD patients without seizures， matched for sex and age， during the same period of time were randomly selected as control group. Cranial MRI findings were compared between the two groups. Results There were 69 WD patients （43 male patients and 26 female patients） in the study group， with a mean age of （29.46±8.58） years at the time of attending the hospital， and all these patients had abnormal electroencephalogram （EEG） findings. There were no significant differences between the two groups in age of onset，disease duration， WD subtype， and serum copper. Cranial MRI showed that the putamen was the most common site of brain injury （47 patients， 68.1%）， followed by the frontal lobe （40 patients，58.0%） and the parietal lobe （31 patients，44.9%）， and there was a significantly higher probability of epilepsy in patients with abnormal lesions in the frontal， temporal， or parietal lobes （P<0.05）. Conclusion While the putamen is the most common site of brain injury in WD patients with epilepsy， frontal or temporal lobe injuries are neuroimaging risk factors for seizures in such patients.

Objective To compare the clinical and cranial magnetic resonance imaging （MRI） features of neurological hepatolenticular degeneration （also known as Wilson disease，WD） with two different ATP7B gene mutations， and to investigate the association between the clinical and cranial MRI features in patients with the two mutation types of neurological WD. Methods The neurological WD patients with p.Arg778Leu or p.Pro992Leu homozygous mutation who were hospitalized in Affiliated Hospital of Neurology Institute， Anhui University of Chinese Medicine， from May 2014 to May 2025 were enrolled， and a retrospective analysis was performed for their demographic data， clinical manifestations， serological markers， and cranial MRI data to compare the differences between the two mutation types of neurological WD. Results A total of 103 neurological WD patients were enrolled， among whom there were 65 patients with p.Arg778Leu-mutant WD and 38 patients with p.Pro992Leu-mutant WD. There were no significant differences in demographics， clinical manifestations， and most serological markers between the two mutation types of WD， while there was a significant difference in cranial MRI findings between two groups， with significant differences in the damage of the thalamus （χ²=17.834，P<0.001），the midbrain （χ²=12.579， P<0.001）， and the pons （χ²=10.605， P=0.001） between the patients with p.Arg778Leu-mutant WD and those with p.Pro992Leu-mutant WD， and the multivariate analysis also showed significant differences in the above indicators （P<0.05）. Conclusion Demographic data， clinical manifestations， and serological markers are not associated with gene mutation types in neurological WD， while cranial MRI manifestations are associated with gene mutation types， among which p.Arg778Leu mutation of the ATP7B gene is more likely to involve the thalamus， the midbrain， and the pons.