penicillic-acid and Hepatolenticular-Degeneration

Thirty patients with Wilson's disease (WD) were observed at a movement disorder clinic between 1970 and 2000. Disease onset was at the mean age (SD) of 14.5 (+/-5.9) years. Presentation with hepatic disease occurred in 12 of 30 patients and with neurologic disease in 15. Three patients were asymptomatic at the time of diagnosis. The mean (SD) delay to diagnosis was 5.9 (+/-5.7) years. Five patients diagnosed in an advanced stage of disease died before initiating treatment. Eighteen patients were followed and treated with D-penicillamine alone or in combination with zinc sulphate. Treatment improved most of neurological symptoms. Dystonic postures, behavioural disturbances and dysarthria were the most resistant neurological signs. 'Pseudo-sclerotic' neurologic involvement predicted a good outcome, whereas hepatic onset and 'classic' neurologic involvement were associated with a poorer prognosis. Two of the 18 treated patients died of hepatic failure due to voluntary discontinuation of therapy. Both D-penicillamine and zinc sulphate were well tolerated. No teratogenic effect of D-penicillamine was observed throughout 5 pregnancies. Our results suggest that D-penicillamine or a combination of D-penicillamine and zinc sulphate is a safe and effective long-term treatment in patients with WD.

Topics: Adolescent; Adult; Brain; Child; Child, Preschool; Drug Therapy, Combination; Dysarthria; Dystonia; Female; Follow-Up Studies; Hepatolenticular Degeneration; Humans; Long-Term Care; Magnetic Resonance Imaging; Male; Mental Disorders; Neurologic Examination; Penicillic Acid; Pregnancy; Retrospective Studies; Survival Rate; Treatment Outcome; Zinc Sulfate

In addition to hepatic and extrapyramidal motor clinical symptoms, Wilson's disease patients also exhibit subclinical disorders of other central nervous pathways. In this study, an impairment profile is described by means of eight electrophysiological tests (EAEP, MSEP, TSEP, T-VEP, MEP, EEG, heart frequency variability, and SSR) for 37 patients (28 with neurological, nine with tnon-neurological form) undergoing long-term drug therapy. The occurrence in 64.3% of a delayed wave III and/or IPL III-V prolongation in patients with the neurological form makes pathological FAEP the most common form of the disorder, followed by disorders in MSEP, TSEP, MEP, and T-VEP. Patients with the non-neurological form usually have normal values, although latency prolongations occur in isolated cases. The range of evoked potential findings is characterised primarily by latency prolongations, i.e. a demyelinising impairment type, and significant losses of potential hardly occur (except in the MEP). The electrophysiological impairment profile does not include EEG changes or vegetative disorders.

Topics: Autonomic Nervous System Diseases; Basal Ganglia Diseases; Cerebral Cortex; Chelating Agents; Diagnosis, Differential; Electric Stimulation; Extrapyramidal Tracts; Galvanic Skin Response; Hepatolenticular Degeneration; Humans; Nervous System Diseases; Neurologic Examination; Penicillic Acid; Peripheral Nerves; Reaction Time; Trientine

The aim was to elucidate the personality traits of patients with treated Wilsons disease (WD) in comparison to healthy volunteers.. Twenty-five WD patients, ten females and 15 males, with a mean age of 35.2 +/- 8.3 years completed the Karolinska Scales of Personality (KSP), a self-report inventory comprising 15 separate scales. The results were compared to a control series comprising 200 men and 200 women drawn from the general population.. The patients with treated WD scored significantly lower than the healthy controls on aggressivity-hostility-related scales and the scale measuring Psychic Anxiety. Patients with predominantly hepatic symptoms had the lowest aggressivity-related scores and patients with predominantly neurological symptoms had the lowest Irritability, Guilt and Detachment scores and the highest Impulsiveness and Muscular Tension scores. Both groups scored low on the Somatic Anxiety scale.. The present results illustrate that patients with treated WD have significant deviations in personality traits, especially in aggressivity-hostility-related scales and Psychic Anxiety, compared to healthy controls when investigated by means of a self-report inventory, the KSP. The deviations were not related to age, age at onset or duration of the disease.

Topics: Adult; Aggression; Arousal; Female; Follow-Up Studies; Hepatolenticular Degeneration; Hostility; Humans; Male; Middle Aged; Penicillic Acid; Personality Inventory; Psychometrics; Reproducibility of Results; Trientine; Zinc Acetate