Metals and movement disorders.
1Department of Neurology and Neurosurgery, University of Tartu, Tartu, Estonia. Pille.Taba@kliinikum.ee
Current Opinion in Neurology
|June 22, 2013
Summary
Recent genetic discoveries illuminate the role of iron, manganese, and copper in neurodegenerative diseases. Effective chelation therapy exists for hereditary hypermanganesemia and Wilson's disease, but not toxic manganese exposure.
Area of Science:
- Neuroscience
- Genetics
- Toxicology
Background:
- Disorders of brain metal accumulation (manganese, copper, iron) are increasingly recognized.
- Genetic factors play a significant role in the pathogenesis of these conditions.
- Neurodegeneration in basal ganglia is a common feature.
Purpose of the Study:
- To review recent advances in the genetics, diagnosis, and management of brain manganese, copper, and iron accumulation disorders.
- To highlight the impact of new genetic findings on understanding neurodegenerative diseases.
- To discuss current and emerging therapeutic strategies.
Main Methods:
- Literature review of recent scientific publications.
- Analysis of genetic studies identifying novel mutations.
- Evaluation of diagnostic tools, including MRI.
- Assessment of treatment outcomes for chelation therapy.
Main Results:
- A novel genetic disorder causing manganese accumulation, treatable with chelation, has been identified.
- Acquired manganism, linked to hepatocerebral syndrome and ephedrone toxicity, involves basal ganglia neurodegeneration.
- New gene mutations associated with brain iron and copper accumulation have been discovered.
- Magnetic Resonance Imaging (MRI) is valuable for diagnosing basal ganglia diseases with suspected iron overload.
Conclusions:
- Genetic research has significantly advanced our understanding of metal ion roles in neurodegeneration.
- Chelation therapy is a successful treatment for Wilson's disease and hereditary hypermanganesemia.
- While effective for some genetic conditions, no definitive treatment exists for toxic manganese exposure.
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