KMDS
E-submission
Search
- Page Path
- HOME > Search
Original Article
- Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson’s Disease in a Taiwanese Population: An 11-Year Follow-Up Study
- Sung-Pin Fan, Yih-Chih Kuo, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Yu-Hsuan Huang, Han-I Lin, Tai-Chung Tseng, Tung-Hung Su, Shiou-Ru Tzeng, Chien-Ting Hsu, Huey-Ling Chen, Chin-Hsien Lin, Yen-Hsuan Ni
- J Mov Disord. 2023;16(2):168-179. Published online March 6, 2023
- DOI: https://doi.org/10.14802/jmd.22161
- 3,010 View
- 138 Download
- 2 Web of Science
- 2 Crossref
-
Abstract
PDF
Supplementary Material - Objective
aaWilson’s disease (WD) is a rare genetic disorder of copper metabolism, and longitudinal follow-up studies are limited. We performed a retrospective analysis to determine the clinical characteristics and long-term outcomes in a large WD cohort.
Methods
aaMedical records of WD patients diagnosed from 2006–2021 at National Taiwan University Hospital were retrospectively evaluated for clinical presentations, neuroimages, genetic information, and follow-up outcomes.
Results
aaThe present study enrolled 123 WD patients (mean follow-up: 11.12 ± 7.41 years), including 74 patients (60.2%) with hepatic features and 49 patients (39.8%) with predominantly neuropsychiatric symptoms. Compared to the hepatic group, the neuropsychiatric group exhibited more Kayser-Fleischer rings (77.6% vs. 41.9%, p < 0.01), lower serum ceruloplasmin levels (4.9 ± 3.9 vs. 6.3 ± 3.9 mg/dL, p < 0.01), smaller total brain and subcortical gray matter volumes (p < 0.0001), and worse functional outcomes during follow-up (p = 0.0003). Among patients with available DNA samples (n = 59), the most common mutations were p.R778L (allelic frequency of 22.03%) followed by p.P992L (11.86%) and p.T935M (9.32%). Patients with at least one allele of p.R778L had a younger onset age (p = 0.04), lower ceruloplasmin levels (p < 0.01), lower serum copper levels (p = 0.03), higher percentage of the hepatic form (p = 0.03), and a better functional outcome during follow-up (p = 0.0012) compared to patients with other genetic variations.
Conclusion
aaThe distinct clinical characteristics and long-term outcomes of patients in our cohort support the ethnic differences regarding the mutational spectrum and clinical presentations in WD. -
Citations
Citations to this article as recorded by
- Topographical metal burden correlates with brain atrophy and clinical severity in Wilson's disease
Sung-Pin Fan, Ya-Fang Chen, Cheng-Hsuan Li, Yih-Chih Kuo, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Tai-Chung Tseng, Tung-Hung Su, Chien-Ting Hsu, Huey-Ling Chen, Chin-Hsien Lin, Yen-Hsuan Ni
NeuroImage.2024; 299: 120829. CrossRef - ATP7B Gene Variant Profile İdentified by NGS in Wilson’s Disease
Orhan Gorukmez, Taner Özgür, Ozlem Gorukmez, Ali Topak
Fetal and Pediatric Pathology.2023; 42(6): 891. CrossRef
- Topographical metal burden correlates with brain atrophy and clinical severity in Wilson's disease
First
Prev
