Dystonia with Brain Manganese Accumulation Resulting From SLC30A10 Mutations: A New Treatable Disorder
Identifieur interne : 000460 ( Pmc/Corpus ); précédent : 000459; suivant : 000461Dystonia with Brain Manganese Accumulation Resulting From SLC30A10 Mutations: A New Treatable Disorder
Auteurs : Maria Stamelou ; Karin Tuschl ; W K Chong ; Andrew K. Burroughs ; Philippa B. Mills ; Kailash P. Bhatia ; Peter T. ClaytonSource :
- Movement Disorders [ 0885-3185 ] ; 2012.
Abstract
The first gene causing early-onset generalized dystonia with brain manganese accumulation has recently been identified. Mutations in the
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
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 disodium calcium edetate led to clinical improvement and reduction of hyperintensities in brain imaging.
We wish to highlight this rare disorder, which, together with Wilson's disease, is the only potentially treatable inherited metal storage disorder to date, that otherwise can be fatal as a result of complications of cirrhosis. © 2012 Movement Disorder Society
Url:
DOI: 10.1002/mds.25138
PubMed: 22926781
PubMed Central: 3664426
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