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- Original Article Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson’s Disease in a Taiwanese Population: An 11-Year Follow-Up Study
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Sung-Pin Fan1
, Yih-Chih Kuo1,2
, Ni-Chung Lee3,4
, Yin-Hsiu Chien3,4
, Wuh-Liang Hwu3,4
, Yu-Hsuan Huang3
, Han-I Lin1
, Tai-Chung Tseng5,6
, Tung-Hung Su6
, Shiou-Ru Tzeng7
, Chien-Ting Hsu4
, Huey-Ling Chen4
, Chin-Hsien Lin1,8
, Yen-Hsuan Ni4
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DOI: https://doi.org/10.14802/jmd.22161 [Epub ahead of print]
Published online: March 6, 2023
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2Department of Neurology, National Taiwan University Hospital Hsinchu branch, Hsinchu, Taiwan
3Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan
4Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan
5Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan
6Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan
7Institute of Biochemistry and Molecular Biology, College of Medicine, National Taiwan University, Taipei, Taiwan
8Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan
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Corresponding author:
Chin-Hsien Lin, Tel: +886-2-23123456 ext 265335, Fax: +886-2-23418395,
Email: chlin@ntu.edu.tw
Yen-Hsuan Ni, Tel: +886-2-23123456, Fax: +886-2-23147450,
Email: yhni@ntu.edu.tw
Abstract
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.
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