Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.16.3.1 (ceruloplasmin)
 5,074 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A few patients with an affected CNS involving abnormalities in copper metabolism have been described that do not fit any known nosological entities such as Wilson's disease or Menkes' disease. Three sporadic patients (two men and one woman) were examined with involuntary movements and dysarthria associated with abnormal concentrations of serum copper, serum ceruloplasmin, and urinary copper excretion. The onset of neurological symptoms occurred at the age of 15 to 17 years. The common clinical symptoms were involuntary movements and dysarthria. The involuntary movements included dystonia in the neck, myoclonus in the shoulder, athetosis in the neck, and rapid orobuccal movements. The dysarthria consisted of unclear, slow, and stuttering speech. Two of the three patients did not have dementia. A cousin of the female patient had been diagnosed as having Wilson's disease and had died of liver cirrhosis. Laboratory findings showed a mild reduction in serum copper and ceruloplasmin concentrations, whereas urinary copper excretion was significantly reduced in all three patients. Two of the three patients showed a high signal intensity in the basal ganglia on T2 weighted brain MRI. In conclusion, the unique findings of involuntary movements, dysarthria, and abnormal serum copper and urinary copper concentrations suggest that the three patients may constitute a new clinical entity that is distinct from either Wilson's or Menkes disease.
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PMID:A new neurological entity manifesting as involuntary movements and dysarthria with possible abnormal copper metabolism. 1172 1

It has previously been reported that men with developmental stuttering showed reduced concentration of copper in the blood, and a negative correlation between the copper level and the severity of stuttering. Disorders of copper metabolism may result in dysfunction of the basal ganglia system and dystonia, a motor disorder sharing some traits of stuttering. It has been shown that copper ions affect the dopamine and the GABA systems. With this background we investigated the plasma level of copper, the copper binding protein ceruloplasmin, and the estimated level of free copper in stuttering adults. Sixteen men with developmental stuttering were compared with 16 men without speech problems. The samples were assayed in one batch in a pseudorandom and counterbalanced order. No significant differences were found between stuttering men and the control group in any of the biological variables, and no negative correlation between copper and the general severity of stuttering was shown. On the contrary, an explorative analysis resulted in a positive correlation between high plasma copper and superfluous muscular activity during stuttering (r=0.51, p=0.04). This result indicates that there is no relation between developmental stuttering and low plasma copper in the main population of stuttering adults.
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PMID:Copper in developmental stuttering. 1603 97

Wilson's disease is an inherited autosomal-recessive disorder of biliary copper excretion. It is characterized by hepatic, neurological and ophthalmic manifestations related to the accumulation of copper in the liver, the lenticular nuclei of brain and cornea. The authors present the case of a 29-year-old female with primarily depression manifestation of Wilson's disease. The patient also reported agitation, difficulties with concentration, slowdown of speech, and stuttering. In magnetic resonance imaging, in putamen, the globus pallidus, claustrum, the heads of caudate nucleus and thalamus areas demonstrated the increased signal in T2. A high copper content was obtained in daily urine collection and reduced level in serum. Similarly, ceruloplasmin level was decreased. Despite the antidepressant treatment with venlafaxine, no improvement was observed. Within a week of psychomotor slowdown, symptoms such as Parkinson's syndrome appeared. Due to the rapid progression of the disease symptoms, the patient was referred for further treatment at a specialistic center. After six month, despite the treatment, the progress of disease was so advanced that patient was transferred to the hospice. Two weeks later patient died. Wilson's disease might be consider in differential diagnosis of depression in young patients, especially if they present additional extrapyramidal symptoms and unspecific changes in magnetic resonance imaging.
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PMID:Primarily depression manifestation of Wilson's disease-Case report. 3189 89