Kantonsspital St.Gallen

Gait disorder in a patient with Wilson’s disease 18 years after onset of disease

Florian Brugger, Ansgar Felbecker, Georg Kägi, Stefan Hägele-Link & Barbara Tettenborn

abstract Objective: Wilson’s disease is an autosomal recessive inherited disorder of copper metabolism leading to an excessive accumulation of copper in and outside the liver. A broad spectrum of neurological symptoms comprising dystonia, parkinsonian features, cerebellar and bulbar signs is very common and can severely impact the patient’s quality of life. Even though gait disorder is a quite prominent neurological sign in Wilson’s disease, the features of the gait abnormalities have not been described in detail in the literature. We describe the gait abnormalities in a patient who has been suffering from clinical signs of Wilson’s disease for 18 years and has been treated with different anticopper agents since the first diagnosis in 1992.
Methods: This 51-year-old male patient was diagnosed with Wilson’s disease at the age of 33 after a 2 years lasting history of severe arm and head tremor resulting in a significant impairment of his working ability. Irritable and aggressive behavior was present at time of disease onset and worsened in the first years after the diagnosis. He reported a marked progression of symptoms after changing the treatment from D-penicillamin to zinc sulfate in the late 1990s. Even though D-penicillamine was reintroduced, since this time walking remained impaired and the patient has been bound to a walking frame to overcome his gait disorder in a suitable manner. Recent urine analysis showed that copper was effectively eliminated under D-penicillamine.
Results: On the neurological examination the patient revealed a complex gait disorder comprising features of severe (gait-specific)dystonia, gait apraxia and freezing of gait (FOG), respectively. While walking sidewards along the wall he used a simple cue to improve his gait impairment. Otherwise no significant impairment of leg motility or marked dystonic features could be observed when he was in a sitting or lying position. Some frontal signs were positive in this patient, pyramidal signs, however, were missing.
Conclusion: This is an illustrative case showing a particular pattern of gait abnormalities with a combination of FOG and dystonia. While dystonia is well known in patients with Wilson’s disease FOG is unusual and could reflect the involvement of different neuroanatomical structures beyond the basal ganglia pathology.
keywords Wilson's disease, gait disorder
citation Brugger F, Felbecker A, Kägi G, Hägele-Link S, & Tettenborn B (2010). Gait disorder in a patient with Wilson’s disease 18 years after onset of disease. Presented at Twentieth Meeting of the European Neurological Society, Berlin.
type presentation (English)
date of publishing 21-6-2010
event Twentieth Meeting of the European Neurological Society (Berlin)
contact Florian Brugger