ABSTRACT
BACKGROUND: Wilson's disease is an autosomal recessive genetic disorder resulting from an abnormality of copper metabolism. The excessive accumulation of copper in the brain induces an extrapyramidal syndrome. Oculomotor abnormalities occur in most extrapyramidal disorders but have rarely been studied in Wilson's disease. OBJECTIVE: To evaluate the ocular motility manifestations of Wilson's disease. METHODS: A prospective study of 34 patients affected by Wilson's disease who were recruited and their ocular motility recorded by electro-oculography (EOG). RESULTS: Vertical smooth pursuit was abnormal in 29 patients (85%). Vertical optokinetic nystagmus and horizontal smooth pursuit were impaired in 41% and 41% of patients, respectively. No MRI abnormality was found in the lenticular nuclei of seven patients who manifested ocular motility abnormalities. CONCLUSION: Vertical eye movements, in particular vertical pursuits, are impaired in Wilson's disease, more often than vertical optokinetic nystagmus and vertical saccades. EOG abnormalities can be found in patients who do not yet exhibit anatomical lesions on MRI.
Subject(s)
Electrooculography , Hepatolenticular Degeneration/diagnosis , Ocular Motility Disorders/diagnosis , Adolescent , Adult , Cohort Studies , Corpus Striatum/pathology , Electronystagmography , Female , Fixation, Ocular , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Neurologic Examination , Nystagmus, Optokinetic , Prospective Studies , Pursuit, Smooth , Saccades , Statistics as TopicABSTRACT
BACKGROUND: Familial hemiplegic migraine and episodic ataxia type 2 (EA2) are allelic disorders with distinct types of mutations in the CACNA1A gene. EA2 attacks are remarkably sensitive to acetazolamide, a carbonic anhydrase inhibitor. The effectiveness of acetazolamide in migraine prophylaxis is unknown. OBJECTIVES: To evaluate the efficacy and the tolerability of acetazolamide in migraine prophylaxis. METHODS: We compared daily oral 500 mg acetazolamide and placebo in patients with migraine in a multicentre, double-blind, randomised trial of 12 weeks duration after a run-in period of 4 weeks without treatment. Frequency of attacks at the last trial period of 4 weeks was the primary efficacy criterion. Secondary efficacy criteria were the frequency of attacks per 4 weeks, the severity and duration of attacks, the number of hours with migraine as well as the number of responders with more than 50% reduction in attack frequency. RESULTS: 53 patients had been enrolled when the study was prematurely stopped because of a high number of withdrawals (34%), primarily linked to acetazolamide related side effects. Considering the primary and secondary efficacy criteria, among the 53 included patients (27 in the placebo group and 26 in the acetazolamide group), no difference between the 2 study groups could be demonstrated. The most frequent adverse events related to acetazolamide were paresthesias and asthenia. CONCLUSIONS: In this trial, migraine sufferers poorly tolerated acetazolamide given in an oral dose of 500 mg daily. No obvious prophylactic beneficial effect of acetazolamide appeared on migraine attacks.
Subject(s)
Acetazolamide/adverse effects , Calcium Channels, P-Type/drug effects , Carbonic Anhydrase Inhibitors/adverse effects , Drug Tolerance/physiology , Migraine Disorders/drug therapy , Migraine Disorders/prevention & control , Adolescent , Adult , Aged , Bicarbonates/blood , Blood Pressure/drug effects , Blood Pressure/physiology , Calcium Channels, P-Type/metabolism , Female , Humans , Male , Memory Disorders/chemically induced , Middle Aged , Migraine Disorders/physiopathology , Paresthesia/chemically induced , Patient Compliance , Sleep Stages/drug effects , Treatment OutcomeABSTRACT
We report water diffusion abnormalities in periventricular areas in a patient with Wernicke's encephalopathy. The reduction in diffusion disappeared after 2 weeks of treatment with intravenous thiamine. We suggest that the restricted mobility of cerebral water is related to inflammatory lesions.
