Long-term outcome of neurological Wilson's disease.

INTRODUCTION: Aim of the study was to characterize the clinical spectrum of long-term treated patients with Wilson's disease (WD) and to identify risk factors influencing long-term outcome.

METHODS: In a cross-sectional study 30 WD-patients being treated for at least 2.5 and up to 31 years underwent a detailed clinical investigation, scoring of clinical findings yielding 7 motor and 3 non-motor subscores as well as laboratory testing. A factor analysis of these subscores and laboratory parameters was performed to detect those items with the highest influence on outcome, an ANOVA and subgroup analysis tested the influence of age, age at onset of diagnosis and duration of treatment on outcome. A correlation analysis was performed between clinical subscores and laboratory findings.

RESULTS: Three factors (F1-F3) characterized the clinical outcome (F1: tremor and pathological reflexes; F2: dystonia and dysarthria; F3: cerebellar abnormalities and gait), and three factors the laboratory findings (LF1: serum level of ceruloplasmin; LF2: liver enzymes; LF3: INR). Mildly affected patients had an elevated 24 h urinary copper excretion, more affected patients presented with elevated liver enzymes. Six of the 7 motor subscores did not change with duration of treatment, whereas tremor (p < .04), the total score (p < .02) and especially the non-motor items (p < .001) significantly increased with duration of treatment. The outcome of patients with neuropsychiatric abnormalities was significantly worse (p < .01) compared to the rest of the patients.

CONCLUSIONS: Long-term outcome in WD is influenced by patient's compliance and neurological comorbidity.