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 μg/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.
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Acknowledgements
Dr Brewer’s Wilson’s disease work has been supported by grants FD-R-000179, FD-R-002153, FD-R-002132 and FD-U-000505 from the US FDA’s Orphan Products Office, and by the General Clinical Research Center of the University of Michigan Hospitals, supported by the National Institutes of Health (grant number MO1-RR00042).
Dr Brewer is supported in part by a grant from Attenuon LLC, San Diego, CA. The University of Michigan has recently licensed the antiangiogenic uses of tetrathiomolybdate to Attenuon LLC, and Dr Brewer has equity in Attenuon LLC, and is a paid consultant to Attenuon.
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Brewer, G.J. Neurologically Presenting Wilson’s Disease. CNS Drugs 19, 185–192 (2005). https://doi.org/10.2165/00023210-200519030-00001
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DOI: https://doi.org/10.2165/00023210-200519030-00001