ArticleOrphanet journal of rare diseases2025
Assessment of neurological symptoms and associated factors in patients with Wilson's disease in Southwest China.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- Post-marketing safety signals of Wilson's disease therapies: evidence from FAERS and VigiBase.Orphanet journal of rare diseases · 2026Article
- Recent advances in research on high-frequency mutations in the ATP7B gene associated with Wilson disease in the Chinese population: from genetic evolution to precision medicine.Frontiers in molecular biosciences · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWilson's disease is an inherited genetic disorder of hepatic copper metabolism characterized by hepatic, neurological, and psychiatric manifestations. Patients with neurological symptoms manifest remarkable variability regarding type and severity. This study aimed to characterize neurological signs and symptoms of patients with Wilson's disease in Southwest China and identify factors associated with neurological symptoms in patients with Wilson's disease.
methodsA total of 109 treated patients with Wilson's disease were included in the study. Sociodemographic and clinical data were obtained through face-to-face interviews and medical record reviews. ATP7B mutations were identified through whole-genome resequencing. Neurological signs and symptoms were assessed using the neurological part of the Unified Wilson's Disease Rating Scale (UWDRS Part I). Multiple linear regression analysis was performed to assess the association between patient characteristics and UWDRS Part I scores.
resultsThe most prevalent neurological symptoms of patients with Wilson's disease were impaired rapid alternating movements of hands (76.2-81.0%), impaired finger tapping (75.0%), dysarthria (70.2%), salivation (66.7%), impaired handwriting (61.9%), impaired legs agility (60.7-61.9%), impaired gait (leg dystonia, 59.5%; ataxia, 58.3%), and dystonia of arms and hands (54.8-56.0%). Sex and age differences were observed in the neurological features of Wilson's disease. Sociodemographic and clinical factors associated with the severity of neurological symptoms included occupation, family per capita monthly income, initial clinical subtype, adherence to low-copper diets, and mental health conditions, with an explanatory power of 42.1% (F = 10.474, p < 0.001). Genotype-phenotype analysis showed that patients carrying the p.P992L mutation had a significantly higher frequency of impaired finger tapping (p = 0.037).
conclusionThe main neurological symptoms in this study of treated patients with Wilson's disease were lack of motor coordination, dystonia, dysarthria, and salivation. This study identified five factors associated with the severity of neurological symptoms and revealed a potential association between the p.P992L mutation and a specific neurological manifestation. These results may enhance the understanding of Wilson's disease, guide future management of patients to alleviate neurological symptoms and improve prognosis.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.