Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.

ABSTRACT:

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 described patient with a proven homozygous mutation in SLC30A10.

Results

The patient presented with early-onset generalized dystonia and mild hyperbilirubinemia accompanied by elevated whole-blood manganese levels. T1-sequences in MRI showed hyperintensities in the basal ganglia and cerebellum, characteristic of manganese deposition. Treatment with intravenous d

SUBMITTER: Stamelou M 

PROVIDER: S-EPMC3664426 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature