A recently published study in the Journal of Movement Disorders found worse functional outcomes for patients with Wilson’s disease (WD) presenting with neuropsychiatric symptoms at the initial presentation than those with an initial hepatic presentation.
The study retrospectively evaluated the medical records of patients with WD diagnosed from 2006–2021 at the National Taiwan University Hospital. A total of 123 patients with WD were enrolled in the study, including 74 patients (60.2%) with hepatic features, and 49 patients (39.8%) presented with predominantly neuropsychiatric symptoms. The research team assessed neuroimages, clinical presentations, genetic information, and follow-up outcomes of all patients with WD.
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Study results indicated that the neuropsychiatric group compared to the hepatic group, demonstrated higher Kayser-Fleischer rings (77.6% vs. 41.9%), lower serum ceruloplasmin levels, fewer total brain, and subcortical gray matter volumes as well as worse functional outcomes during the follow-up period. Moreover, among patients with available DNA samples, the most common mutations were found to be p.R778L (allelic frequency of 22.03%), followed by p.P992L (11.86%) and p.T935M (9.32%).
Additionally, compared to patients with other genetic variations, patients with at least 1 allele of p.R778L were found to have a younger onset age, fewer ceruloplasmin levels, a higher percentage of hepatic form, lower serum copper levels, and a better functional outcome throughout the follow-up period.
“These observations reinforce the importance of early diagnosis, including establishing quantitative imaging markers for copper deposition in the brain and early management of WD,“ the authors highlighted.
The authors acknowledged several limitations in the study, including its retrospective nature and reliance on medical record reviews that may introduce bias due to missing data. Additionally, the evaluation and treatment of some patients were done in a single department, which needs to be more comprehensive for the multisystem involvement of WD.
Moreover, the study only used the MMSE for assessing cognitive function, which is limited in evaluating individual cognitive domains. Lastly, genetic information was lacking for some patients, resulting in a limited sample size for genetic analysis. The number of patients with the homozygous p.R778L variant was too small to make a definitive conclusion.
“Because WD patients can have long overall survival with adequate treatment, there is a need for regular detailed neurological evaluations combined with quantitative brain image analysis to improve quality of life and treatment response in these patients,” the authors added.
Reference
Fan S, Kuo Y, Lee N, et al. Clinical characteristics, genetic features, and long-term outcome of Wilson’s disease in a Taiwanese population: an 11-year follow-up study. Journal of Movement Disorders 2023. Published online March 6, 2023. doi: 10.14802/jmd.22161
