Analysis of Single-Leg Hopping in Long-Term Treated Patients with Neurological Wilson's Disease: A Controlled Pilot Study.

Harald Hefter,Dietmar Rosenthal,Osman Tezayak,Sara Samadzadeh

doi:10.3390/medicina58020249

Harald Hefter, Dietmar Rosenthal + Show 2 more

Open Access

https://doi.org/10.3390/medicina58020249

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Abstract

Background and Objectives: In long-term treated patients with neurological Wilson’s disease, the ability to perform single-leg hopping was analyzed to quantify motor deficits. Materials and Methods: Twenty-nine long-term treated Wilson patients had to stand on one leg for at least 3 s and then perform at least five consecutive hops on this leg. Ground reaction forces and temporal patterns of hopping were recorded using an Infotronic® walking system, which consists of soft tissue shoes with a solid, but flexible plate containing eight force transducers allowing measurement of ground reaction forces (GRF) and temporal patterns of foot ground contact. Parameters of hopping were correlated with clinical scores and parameters of copper metabolism and liver enzymes. Patients’ hopping data were compared with those of an age- and sex-matched control group. Results: Five severely affected Wilson patients were unable to hop. Time to the peak was significantly (p < 0.03) shorter in the remaining 24 patients compared to controls, but there was no difference in hopping frequency, the amplitude of ground forces and duration of foot contact. Twelve patients produced a second, sharp, initial “impact” force peak during ground contact in addition to the usual “active” force peak. Variability of the amplitude of the “active” peak was significantly inversely correlated with urinary copper elimination. Conclusions: The majority of long-term treated patients with neurological Wilson’s disease was able to perform single-leg hopping. The presence of a sharp initial “impact” peak in the GRF-curves of hopping may indicate a mild deficit of limb/trunk coordination and subclinical cerebellar impairment.

Highlights

Wilson’s disease (WD) is a rare, recessively inherited deficit of copper transportation [1,2,3] with increased serum levels of free copper and progressive copper intoxication of multiple organs [4]
Thirty WD patients who were treated as out-patients in the Department of Neurology of the University of Düsseldorf were consecutively recruited and gave their informed consent to participate in the present study on single-leg hopping
Demographical data of the patient cohort and the control group are compared in difference in age, body height and body weight

Summary

Introduction

Wilson’s disease (WD) is a rare, recessively inherited deficit of copper transportation [1,2,3] with increased serum levels of free copper and progressive copper intoxication of multiple organs [4]. Frequencies of occurrence of initial neurological symptoms are reported in several large case series [7,8,9,10,11]. These reported frequencies vary widely [6]. In long-term treated patients with neurological Wilson’s disease, the ability to perform single-leg hopping was analyzed to quantify motor deficits. Time to the peak was significantly (p < 0.03) shorter in the remaining 24 patients compared to controls, but there was no difference in hopping frequency, the amplitude of ground forces and duration of foot contact. Conclusions: The majority of long-term treated patients with neurological Wilson’s disease was able to perform single-leg hopping. The presence of a sharp initial “impact” peak in the GRF-curves of hopping may indicate a mild deficit of limb/trunk coordination and subclinical cerebellar impairment

Methods

Discussion

Conclusion