Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.
1317 - 1322.
The first gene causing early-onset generalized dystonia with brain manganese accumulation has recently been identified. Mutations in the SLC30A10 gene, encoding a manganese transporter, cause a syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia.
|Title:||Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.|
|Keywords:||Brain, Cation Transport Proteins, Chelating Agents, Dystonia, Female, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Manganese, Mutation, Pentetic Acid, Young Adult|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Motor Neuroscience and Movement Disorders|
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