TABLE 1.
Group demographic and clinical characteristics, copper indices and biomarker results
| Characteristic | Control (n = 38) | Hepatic (n = 17) | Neurologic (n = 23) | P a | P b | P c |
|---|---|---|---|---|---|---|
| Age (yr) (mean (SD)) | 44 (13) | 42 (15) | 44 (14) | 0.83 | 0.77 | 0.47 |
| Sex (female) (n (%)) | 24 (63) | 8 (47) | 12 (52) | 0.38 | 0.75 | 0.15 |
| Disease duration (yr) (mean (SD)) | 20 (15)d | 25 (16)d | 0.37 | 0.56 | ||
| Active disease status (n (%)) | 0 (0) | 5 (22) | ||||
| KF rings present (n (%)) | 3 (23)e | 14 (64)e | ||||
| Evidence of cirrhosis (n (%)) | 7 (41)f | 10 (43)f | ||||
| Treatments (n (%)) | ||||||
| Penicillamine | 9 (53) | 17 (74) | ||||
| Trientine | 5 (29) | 4 (17) | ||||
| Zinc | 1 (6) | 0 (0) | ||||
| Combination | 0 (0) | 1 (4) | ||||
| Transplant | 2 (12) | 1 (4) | ||||
| UWDRS (median (IQR)) | ||||||
| UWDRS‐N | 3 (0–4) | 22 (14–37) | ||||
| UWDRS‐P | 8 (3–13) | 8 (4–15) | ||||
| UWDRS‐F | 0 (0–1) | 3 (2–9) | ||||
| Copper indices (median (IQR)) | ||||||
| NCC (μmol/L) | 1.7 (1.4–2.3) | 1.7 (1.4–2.6) | 0.86 | 0.54 | ||
| CuEXC (μmol/L) | 0.6 (0.4–0.6) | 0.5 (0.3–0.8) | 0.71 | 0.13 | ||
| UCu (μmol/24 hr) | 4.2 (1.7–7.7) | 5.0 (3.6–7.3) | 0.28 | <0.001 | ||
| Biomarkers (median (IQR)) | ||||||
| NfL (ng/L) | 7.6 (5.4–9.9) | 7.0 (4.9–8.8) | 8.7 (6.6–16.0) | 0.005 | 0.005 | 0.048 |
| Tau (ng/L) | 1.4 (1.1–2.3) | 1.4 (1.3–1.7) | 1.8 (1.2–2.1) | 0.57 | 0.13 | 0.57 |
| GFAP (ng/L) | 84 (65–136) | 80 (67–90) | 84 (65–136) | 0.61 | 0.50 | 0.42 |
| UCH‐L1 (ng/L) | 23 (14–41) | 23 (17–31) | 23 (14–41) | 0.014 | 0.06 | 0.87 |
Abbreviations: SD, standard deviation; KF, Kayser–Fleischer; IQR, interquartile range; UWDRS, Unified Wilson's Disease Rating Scale; ‐N, neurological examination subscore; ‐P, psychiatric subscore; ‐F, function subscore; NCC, non‐ceruloplasmin‐bound copper; CuEXC, exchangeable copper; UCu, urine copper; NfL, neurofilament light; GFAP, glial fibrillary acidic protein; UCH‐L1, ubiquitin carboxyl terminal hydrolase‐L1.
P values when comparing neurological and control groups.
P values when comparing neurological and hepatic groups.
P values when comparing active and stable patients.
Disease duration refers to symptom onset; six asymptomatic patients identified by family screening are excluded.
Four patients with hepatic and one patient with neurological presentations who were unable to have slit lamp examination and did not have Kayser–Fleischer rings at the bedside are excluded.
Evidence of cirrhosis determined by previous imaging and histopathology results. One participant had features of decompensated liver disease (ascites) during their research visit.