title: Neurologically presenting Wilson's disease: epidemiology, pathophysiology and treatment.
abstract: Wilson's disease is a rare autosomal recessive disease of copper accumulation and copper toxicity, due to mutations in the ATP7B gene, which leads to a failure of copper excretion in the bile. It presents clinically primarily as liver disease, psychiatric disease, neurological disease, or a combination of these. The neurological disease is a movement disorder, with abnormalities of speech, tremor, incoordination and dystonia being common features. Diagnosis of neurologically presenting patients is usually straightforward, with Kayser-Fleischer rings and a urine copper over 100 microg/day almost invariably present. In the treatment of neurologically presenting patients, penicillamine should always be avoided, because of the high risk of permanent, drug-induced, additional neurological deterioration. A new drug we have developed, tetrathiomolybdate, given for 8-16 weeks, in combination with zinc, is our first choice for treating these patients. In the absence of availability of tetrathiomolybdate, zinc or trientine are the next best choices.
authors.affiliation: Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109-0534, USA. brewergj@umich.edu
authors.forename: George J
authors.initials: GJ
authors.lastname: Brewer
mesh_terms: D001519:Behavior; D002614:Chelating Agents / Q000627:therapeutic use; D004791:Enzyme Inhibitors; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy* / Q000453:epidemiology / Q000503:physiopathology*; D006801:Humans; D008982:Molybdenum / Q000627:therapeutic use; D009422:Nervous System Diseases / Q000188:drug therapy* / Q000453:epidemiology / Q000209:etiology / Q000503:physiopathology*; D010396:Penicillamine / Q000627:therapeutic use; D014266:Trientine / Q000627:therapeutic use; D015032:Zinc / Q000627:therapeutic use
chemical_list: D002614:Chelating Agents; D004791:Enzyme Inhibitors; D008982:Molybdenum; C020809:tetrathiomolybdate; D010396:Penicillamine; D015032:Zinc; D014266:Trientine
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