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      Dystonia with Brain Manganese Accumulation Resulting From SLC30A10 Mutations: A New Treatable Disorder

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          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 disodium calcium edetate led to clinical improvement and reduction of hyperintensities in brain imaging.

          Conclusions

          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

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          Most cited references50

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          Copper and iron disorders of the brain.

          Jonathan Gitlin, Jan Erik Madsen (2006)
          Copper and iron are transition elements essential for life. These metals are required to maintain the brain's biochemistry such that deficiency or excess of either copper or iron results in central nervous system disease. This review focuses on the inherited disorders in humans that directly affect copper or iron homeostasis in the brain. Elucidation of the molecular genetic basis of these rare disorders has provided insight into the mechanisms of copper and iron acquisition, trafficking, storage, and excretion in the brain. This knowledge permits a greater understanding of copper and iron roles in neurobiology and neurologic disease and may allow for the development of therapeutic approaches where aberrant metal homeostasis is implicated in disease pathogenesis.
          Article 0 comments Cited 91 times – based on 0 reviews     Review now
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            What is and what is not 'Fahr's disease'.

            Bala Manyam (2005)
            Bilateral almost symmetric calcification involving striatum, pallidum with or without deposits in dentate nucleus, thalamus and white matter is reported from asymptomatic individuals to a variety of neurological conditions including autosomal dominant inheritance to pseudo-pseudohypoparathyroidism. While bilateral striopallidodentate calcinosis is commonly referred to as 'Fahr's disease' (a misnomer), there are 35 additional names used in the literature for the same condition. Secondary bilateral calcification is also reported in a variety of genetic, developmental, metabolic, infectious and other conditions. In autosomal dominant or sporadic bilateral striopallidodentate calcinosis no known calcium metabolism abnormalities are known to date. Clinically, parkinsonism or other movement disorders appear to be the most common presentation, followed by cognitive impairment and ataxia. When presence of movement disorder, cognitive impairment and ataxia are present, a computed tomography scan of the head should be considered to rule-in or rule-out calcium deposits. Calcium and other mineral deposits cannot be linked to a single chromosomal locus. Further genetic studies to identify the chromosomal locus for the disease are in progress.
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              Differential diagnosis for bilateral abnormalities of the basal ganglia and thalamus.

              Amogh N Hegde, Suyash Mohan, Narayan Lath … (2015)
              The basal ganglia and thalamus are paired deep gray matter structures that may be involved by a wide variety of disease entities. The basal ganglia are highly metabolically active and are symmetrically affected in toxic poisoning, metabolic abnormalities, and neurodegeneration with brain iron accumulation. Both the basal ganglia and thalamus may be affected by other systemic or metabolic disease, degenerative disease, and vascular conditions. Focal flavivirus infections, toxoplasmosis, and primary central nervous system lymphoma may also involve both deep gray matter structures. The thalamus is more typically affected alone by focal conditions than by systemic disease. Radiologists may detect bilateral abnormalities of the basal ganglia and thalamus in different acute and chronic clinical situations, and although magnetic resonance (MR) imaging is the modality of choice for evaluation, the correct diagnosis can be made only by taking all relevant clinical and laboratory information into account. The neuroimaging diagnosis is influenced not only by detection of specific MR imaging features such as restricted diffusion and the presence of hemorrhage, but also by detection of abnormalities involving other parts of the brain, especially the cerebral cortex, brainstem, and white matter. Judicious use of confirmatory neuroimaging investigations, especially diffusion-weighted imaging, MR angiography, MR venography, and MR spectroscopy during the same examination, may help improve characterization of these abnormalities and help narrow the differential diagnosis. RSNA, 2011
              Article 0 comments Cited 81 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Mov Disord
                Journal ID (iso-abbrev): Mov. Disord
                Journal ID (publisher-id): mds
                Title: Movement Disorders
                Publisher: Wiley Subscription Services, Inc., A Wiley Company (Hoboken )
                ISSN (Print): 0885-3185
                ISSN (Electronic): 1531-8257
                Publication date (Print): 01 September 2012
                Publication date (Electronic): 23 August 2012
                Volume: 27
                Issue: 10
                Pages: 1317-1322
                Affiliations
                [1 ]Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology London, United Kingdom
                [2 ]Clinical and Molecular Genetics Unit, University College London Institute of Child Health London, United Kingdom
                [3 ]Department of Radiology, Great Ormond Street Hospital for Children London, United Kingdom
                [4 ]The Liver, Pancreatic, Biliary and Transplant Unit, The Wellington Hospital London, United Kingdom
                Author notes
                †Correspondence to:Prof. P.T. Clayton, Clinical and Molecular Genetics Unit, University College London Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, United Kingdom; peter.clayton@ 123456ucl.ac.uk

                Funding agencies: P.T.C. is funded by the Great Ormond Street Hospital Children's Charity.

                Relevant conflicts of interest/financial disclosures: Nothing to report.

                Full financial disclosures and author roles may be found in the online version of this article.

                [*]

                These authors contributed equally.

                Article
                DOI: 10.1002/mds.25138
                PMC ID: 3664426
                PubMed ID: 22926781
                SO-VID: d915b6d7-1587-4c24-be5e-a60ec81e19cd
                Copyright © Copyright © 2012 Movement Disorder Society
                License:

                Re-use of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation.

                History
                Date received : 21 February 2012
                Date revision received : 22 May 2012
                Date accepted : 03 July 2012
                Categories
                Subject: Brief Reports

                ScienceOpen disciplines: Medicine
                Keywords: dystonia,hypermanganesemia,cirrhosis,polycythemia,slc30a10
                Data availability:
                ScienceOpen disciplines: Medicine
                Keywords: dystonia, hypermanganesemia, cirrhosis, polycythemia, slc30a10

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