Table 1.
Demographic, clinical, and laboratory characteristics of 48 patients with Wilson’s disease
| Characteristic | Mean ± SD, unless otherwise stated |
|---|---|
| Mean age, years | 33.37 ± 12.28 |
| Gender, male, N (%) | 26 (54) |
| Mean disease duration, years | |
| Predominantly hepatic | 3.00 ± 2.47 |
| Predominantly neurological | 5.33 ± 6.98 |
| Disease phenotype, N (%) | |
| Presymptomatic | 6 (12) |
| Predominantly hepatic | 19 (40) |
| Predominantly neurological | 23 (48) |
| Predominant neurological form, N (% of patients with neurological symptoms) | |
| Ataxia/tremor | 10 (43) |
| Parkinsonism | 8 (35) |
| Dystonia | 4 (17) |
| Unclassified | 1 (4) |
| Kayser-Fleischer rings, | |
| Presymptomatic, N (%) | 1(17) |
| Predominantly hepatic, N (%) | 7 (58) |
| Predominantly neurological, N (%) | 23(100) |
| Median UWDRS_NI score (range) | 5 (0–46) |
| Median UWDRS_FI score (range) | 0 (0–14) |
| Serum ceruloplasmin concentration, mg/dl; normal range: 25–45 mg/dl | 13.6 ± 7.10a |
| Total serum copper concentration, μg/dl; normal range: 70–140 μg/dl | 59.57 ± 21.27 |
| Non-ceruloplasmin-bound copper concentration, μg/dl | 16.05 ± 10.6b |
| Corneal copper deposits, N (%) | 36 (75) |
aWe excluded data that were not acquired in our laboratory (one patient)
bWe excluded data that were not acquired in our laboratory (one patient) and data of one patient with non-ceruloplasmin-bound copper concentration that was over 5 standard deviations above the mean (73.4 μg/dl)