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Wilson's disease and other neurological copper disorders
Oliver Bandmann1, Karl Heinz Weiss2, Stephen G Kaler3
1Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
The Lancet. Neurology
|December 16, 2014
Summary
Wilson's disease, a copper metabolism disorder, presents with liver and neurological issues. Early diagnosis and genetic testing for ATP7B mutations are vital for effective treatment, as the condition may be more common than previously thought.
Area of Science:
- Neurology
- Genetics
- Hepatology
Background:
- Wilson's disease is a copper metabolism disorder first defined in 1912.
- It manifests with hepatic and neurological deficits, including dystonia and parkinsonism.
- Presentations range from infancy to late adulthood (>70 years).
Purpose of the Study:
- To highlight the increasing availability and importance of direct genetic testing for ATP7B mutations.
- To emphasize the potential underestimation of Wilson's disease prevalence.
- To underscore the critical need for early diagnosis and appropriate treatment selection.
Main Methods:
- Review of clinical presentations and diagnostic advancements.
- Discussion of genetic testing for ATP7B mutations.
- Comparison with conditions sharing similar clinical or biochemical features.
Main Results:
- Direct genetic testing for ATP7B mutations is increasingly accessible for diagnosis confirmation.
- Prevalence studies suggest Wilson's disease may be more common than previously estimated.
- Distinguishing Wilson's disease from other hepatolenticular degeneration or low ceruloplasmin conditions is essential.
Conclusions:
- Early diagnosis of Wilson's disease is crucial for timely treatment initiation.
- Uncertainty persists regarding optimal medication choices.
- Disordered copper metabolism is linked to other neurological disorders, including axonal neuropathy and neurodegenerative diseases.
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