Article
Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.
Movement disorders : official journal of the Movement Disorder Society - 1 Sept 2012
Stamelou Maria, Tuschl Karin, Chong W K, Burroughs Andrew K, Mills Philippa B, Bhatia Kailash P, Clayton Peter T
Abstract excerpt
BACKGROUND: 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. METHODS: We present 10-year longitudinal clinical features, MRI data, and treatment response to chelation therapy of the originally...
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