Comparison of clinical and cranial magnetic resonance imaging features between patients with different ATP7B mutations of neurological hepatolenticular degeneration
10.19845/j.cnki.zfysjjbzz.2026.0020
- VernacularTitle:脑型肝豆状核变性两种ATP7B基因突变型的临床特征与头部MRI对比研究
- Author:
Yongguang SHI
1
;
Gongqiang WANG
2
Author Information
1. Department of Neurology， Affiliated Hospital of Neurology Institute， Anhui University of Chinese Medicine， Hefei 230061， China
2. Department of Neurology， Affiliated Hospital of Neurology Institute， Anhui University of Chinese Medicine， Hefei 230061， China; Anhui University of Chinese Medicine， Hefei 230012， China
- Publication Type:Journal Article
- Keywords:
Hepatolenticular degeneration;
ATP7B mutation;
Genotype;
Cranial magnetic resonance imaging
- MeSH:
Genotype
- From:
Journal of Apoplexy and Nervous Diseases
2026;43(2):114-118
- CountryChina
- Language:Chinese
-
Abstract:
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.
- Full text:2026060814592992434脑型肝豆状核变性两种ATP7B基因突变型的临床特征与头部MRI对比研究.pdf
