Dystonia with Brain Manganese Accumulation Resulting From SLC30A10 Mutations: A New Treatable Disorder
Identifieur interne : 003776 ( Ncbi/Merge ); précédent : 003775; suivant : 003777Dystonia with Brain Manganese Accumulation Resulting From SLC30A10 Mutations: A New Treatable Disorder
Auteurs : Maria Stamelou [Royaume-Uni] ; Karin Tuschl [Royaume-Uni] ; W K Chong [Royaume-Uni] ; Andrew K. Burroughs [Royaume-Uni] ; Philippa B. Mills [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Peter T. Clayton [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2012.
English descriptors
- KwdEn :
- Brain (metabolism), Cation Transport Proteins (genetics), Chelating Agents (therapeutic use), Dystonia (drug therapy), Dystonia (genetics), Dystonia (pathology), Female, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Manganese (metabolism), Mutation (genetics), Pentetic Acid (therapeutic use), Young Adult.
- MESH :
- chemical , genetics : Cation Transport Proteins.
- drug therapy : Dystonia.
- genetics : Dystonia, Mutation.
- metabolism : Brain, Manganese.
- pathology : Dystonia.
- chemical , therapeutic use : Chelating Agents, Pentetic Acid.
- Female, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Young Adult.
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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Clayton</name><affiliation wicri:level="1"><nlm:aff id="au2"><institution>Clinical and Molecular Genetics Unit, University College London Institute of Child Health</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22926781</idno><idno type="pmc">3664426</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664426</idno><idno type="RBID">PMC:3664426</idno><idno type="doi">10.1002/mds.25138</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">000460</idno><idno type="wicri:Area/Pmc/Curation">000460</idno><idno type="wicri:Area/Pmc/Checkpoint">000188</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">000C70</idno><idno type="wicri:Area/PubMed/Curation">000C70</idno><idno type="wicri:Area/PubMed/Checkpoint">000E42</idno><idno type="wicri:Area/Ncbi/Merge">003776</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Dystonia with Brain Manganese Accumulation Resulting From <italic>SLC30A10</italic> Mutations: A New Treatable Disorder</title><author><name sortKey="Stamelou, Maria" sort="Stamelou, Maria" uniqKey="Stamelou M" first="Maria" last="Stamelou">Maria Stamelou</name><affiliation wicri:level="1"><nlm:aff id="au1"><institution>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Tuschl, Karin" sort="Tuschl, Karin" uniqKey="Tuschl K" first="Karin" last="Tuschl">Karin Tuschl</name><affiliation wicri:level="1"><nlm:aff id="au2"><institution>Clinical and Molecular Genetics Unit, University College London Institute of Child Health</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Chong, W K" sort="Chong, W K" uniqKey="Chong W" first="W K" last="Chong">W K Chong</name><affiliation wicri:level="1"><nlm:aff id="au3"><institution>Department of Radiology, Great Ormond Street Hospital for Children</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Burroughs, Andrew K" sort="Burroughs, Andrew K" uniqKey="Burroughs A" first="Andrew K" last="Burroughs">Andrew K. Burroughs</name><affiliation wicri:level="1"><nlm:aff id="au4"><institution>The Liver, Pancreatic, Biliary and Transplant Unit, The Wellington Hospital</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Mills, Philippa B" sort="Mills, Philippa B" uniqKey="Mills P" first="Philippa B" last="Mills">Philippa B. Mills</name><affiliation wicri:level="1"><nlm:aff id="au2"><institution>Clinical and Molecular Genetics Unit, University College London Institute of Child Health</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="1"><nlm:aff id="au1"><institution>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Clayton, Peter T" sort="Clayton, Peter T" uniqKey="Clayton P" first="Peter T" last="Clayton">Peter T. Clayton</name><affiliation wicri:level="1"><nlm:aff id="au2"><institution>Clinical and Molecular Genetics Unit, University College London Institute of Child Health</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author></analytic><series><title level="j">Movement Disorders</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brain (metabolism)</term><term>Cation Transport Proteins (genetics)</term><term>Chelating Agents (therapeutic use)</term><term>Dystonia (drug therapy)</term><term>Dystonia (genetics)</term><term>Dystonia (pathology)</term><term>Female</term><term>Humans</term><term>Longitudinal Studies</term><term>Magnetic Resonance Imaging</term><term>Manganese (metabolism)</term><term>Mutation (genetics)</term><term>Pentetic Acid (therapeutic use)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cation Transport Proteins</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term><term>Manganese</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Chelating Agents</term><term>Pentetic Acid</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Humans</term><term>Longitudinal Studies</term><term>Magnetic Resonance Imaging</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>The first gene causing early-onset generalized dystonia with brain manganese accumulation has recently been identified. Mutations in the <italic>SLC30A10</italic> gene, encoding a manganese transporter, cause a syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia.</p></sec><sec><title>Methods</title><p>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 <italic>SLC30A10</italic>.</p></sec><sec><title>Results</title><p>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.</p></sec><sec><title>Conclusions</title><p>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</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Tuschl, K" uniqKey="Tuschl K">K Tuschl</name></author><author><name sortKey="Clayton, Pt" uniqKey="Clayton P">PT Clayton</name></author><author><name sortKey="Gospe, Sm" uniqKey="Gospe S">SM Gospe</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tuschl, K" uniqKey="Tuschl K">K Tuschl</name></author><author><name sortKey="Mills, Pb" uniqKey="Mills P">PB Mills</name></author><author><name sortKey="Parsons, H" uniqKey="Parsons H">H Parsons</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Quadri, M" uniqKey="Quadri M">M Quadri</name></author><author><name sortKey="Federico, A" uniqKey="Federico A">A Federico</name></author><author><name sortKey="Zhao, T" uniqKey="Zhao T">T Zhao</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ebert, Bl" uniqKey="Ebert B">BL Ebert</name></author><author><name sortKey="Bunn, Hf" uniqKey="Bunn H">HF Bunn</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Yin, Z" uniqKey="Yin Z">Z Yin</name></author><author><name sortKey="Jiang, H" uniqKey="Jiang H">H Jiang</name></author><author><name sortKey="Lee, Es" uniqKey="Lee E">ES Lee</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Roth, Ja" uniqKey="Roth J">JA Roth</name></author><author><name sortKey="Garrick, Md" uniqKey="Garrick M">MD Garrick</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Crooks, Dr" uniqKey="Crooks D">DR Crooks</name></author><author><name sortKey="Ghosh, Mc" uniqKey="Ghosh M">MC Ghosh</name></author><author><name sortKey="Braun Sommargren, M" uniqKey="Braun Sommargren M">M Braun-Sommargren</name></author><author><name sortKey="Rouault, Ta" uniqKey="Rouault T">TA Rouault</name></author><author><name sortKey="Smith, Dr" uniqKey="Smith D">DR Smith</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fitsanakis, Va" uniqKey="Fitsanakis V">VA Fitsanakis</name></author><author><name sortKey="Zhang, N" uniqKey="Zhang N">N Zhang</name></author><author><name sortKey="Garcia, S" uniqKey="Garcia S">S Garcia</name></author><author><name sortKey="Aschner, M" uniqKey="Aschner M">M Aschner</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sedel, F" uniqKey="Sedel F">F Sedel</name></author><author><name sortKey="Saudubray, Jm" uniqKey="Saudubray J">JM Saudubray</name></author><author><name sortKey="Roze, E" uniqKey="Roze E">E Roze</name></author><author><name sortKey="Agid, Y" uniqKey="Agid Y">Y Agid</name></author><author><name sortKey="Vidailhet, M" uniqKey="Vidailhet M">M Vidailhet</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gouider Khouja, N" uniqKey="Gouider Khouja N">N Gouider-Khouja</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Madsen, E" uniqKey="Madsen E">E Madsen</name></author><author><name sortKey="Gitlin, Jd" uniqKey="Gitlin J">JD Gitlin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Schneider, Sa" uniqKey="Schneider S">SA Schneider</name></author><author><name sortKey="Hardy, J" uniqKey="Hardy J">J Hardy</name></author><author><name sortKey="Bhatia, Kp" uniqKey="Bhatia K">KP Bhatia</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Manyam, Bv" uniqKey="Manyam B">BV Manyam</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kim, Tj" uniqKey="Kim T">TJ Kim</name></author><author><name sortKey="Kim, Io" uniqKey="Kim I">IO Kim</name></author><author><name sortKey="Kim, Ws" uniqKey="Kim W">WS Kim</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hegde, An" uniqKey="Hegde A">AN Hegde</name></author><author><name sortKey="Mohan, S" uniqKey="Mohan S">S Mohan</name></author><author><name sortKey="Lath, N" uniqKey="Lath N">N Lath</name></author><author><name sortKey="Lim, Cc" uniqKey="Lim C">CC Lim</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Schneider, Sa" uniqKey="Schneider S">SA Schneider</name></author><author><name sortKey="Hardy, J" uniqKey="Hardy J">J Hardy</name></author><author><name sortKey="Bhatia, Kp" uniqKey="Bhatia K">KP Bhatia</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Zorzi, G" uniqKey="Zorzi G">G Zorzi</name></author><author><name sortKey="Zibordi, F" uniqKey="Zibordi F">F Zibordi</name></author><author><name sortKey="Chiapparini, L" uniqKey="Chiapparini L">L Chiapparini</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ferrara, J" uniqKey="Ferrara J">J Ferrara</name></author><author><name sortKey="Jankovic, J" uniqKey="Jankovic J">J Jankovic</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fernandez Rodriguez, R" uniqKey="Fernandez Rodriguez R">R Fernandez-Rodriguez</name></author><author><name sortKey="Contreras, A" uniqKey="Contreras A">A Contreras</name></author><author><name sortKey="De Villoria, Jg" uniqKey="De Villoria J">JG De Villoria</name></author><author><name sortKey="Grandas, F" uniqKey="Grandas F">F Grandas</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Furbee, B" uniqKey="Furbee B">B Furbee</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hardy, G" uniqKey="Hardy G">G Hardy</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sikk, K" uniqKey="Sikk K">K Sikk</name></author><author><name sortKey="Haldre, S" uniqKey="Haldre S">S Haldre</name></author><author><name sortKey="Aquilonius, Sm" uniqKey="Aquilonius S">SM Aquilonius</name></author><author><name sortKey="Taba, P" uniqKey="Taba P">P Taba</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Huang, Cc" uniqKey="Huang C">CC Huang</name></author><author><name sortKey="Weng, Yh" uniqKey="Weng Y">YH Weng</name></author><author><name sortKey="Lu, Cs" uniqKey="Lu C">CS Lu</name></author><author><name sortKey="Chu, Ns" uniqKey="Chu N">NS Chu</name></author><author><name sortKey="Yen, Tc" uniqKey="Yen T">TC Yen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kim, Y" uniqKey="Kim Y">Y Kim</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Selikhova, M" uniqKey="Selikhova M">M Selikhova</name></author><author><name sortKey="Fedoryshyn, L" uniqKey="Fedoryshyn L">L Fedoryshyn</name></author><author><name sortKey="Matviyenko, Y" uniqKey="Matviyenko Y">Y Matviyenko</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Burkhard, Pr" uniqKey="Burkhard P">PR Burkhard</name></author><author><name sortKey="Delavelle, J" uniqKey="Delavelle J">J Delavelle</name></author><author><name sortKey="Du Pasquier, R" uniqKey="Du Pasquier R">R Du Pasquier</name></author><author><name sortKey="Spahr, L" uniqKey="Spahr L">L Spahr</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Spahr, L" uniqKey="Spahr L">L Spahr</name></author><author><name sortKey="Butterworth, Rf" uniqKey="Butterworth R">RF Butterworth</name></author><author><name sortKey="Fontaine, S" uniqKey="Fontaine S">S Fontaine</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Olanow, Cw" uniqKey="Olanow C">CW Olanow</name></author><author><name sortKey="Good, Pf" uniqKey="Good P">PF Good</name></author><author><name sortKey="Shinotoh, H" uniqKey="Shinotoh H">H Shinotoh</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Calne, Db" uniqKey="Calne D">DB Calne</name></author><author><name sortKey="Chu, Ns" uniqKey="Chu N">NS Chu</name></author><author><name sortKey="Huang, Cc" uniqKey="Huang C">CC Huang</name></author><author><name sortKey="Lu, Cs" uniqKey="Lu C">CS Lu</name></author><author><name sortKey="Olanow, W" uniqKey="Olanow W">W Olanow</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Discalzi, G" uniqKey="Discalzi G">G Discalzi</name></author><author><name sortKey="Pira, E" uniqKey="Pira E">E Pira</name></author><author><name sortKey="Herrero Hernandez, E" uniqKey="Herrero Hernandez E">E Herrero Hernandez</name></author><author><name sortKey="Valentini, C" uniqKey="Valentini C">C Valentini</name></author><author><name sortKey="Turbiglio, M" uniqKey="Turbiglio M">M Turbiglio</name></author><author><name sortKey="Meliga, F" uniqKey="Meliga F">F Meliga</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Herrero Hernandez, E" uniqKey="Herrero Hernandez E">E Herrero Hernandez</name></author><author><name sortKey="Discalzi, G" uniqKey="Discalzi G">G Discalzi</name></author><author><name sortKey="Valentini, C" uniqKey="Valentini C">C Valentini</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Angle, Cr" uniqKey="Angle C">CR Angle</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Blanusa, M" uniqKey="Blanusa M">M Blanusa</name></author><author><name sortKey="Varnai, Vm" uniqKey="Varnai V">VM Varnai</name></author><author><name sortKey="Piasek, M" uniqKey="Piasek M">M Piasek</name></author><author><name sortKey="Kostial, K" uniqKey="Kostial K">K Kostial</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Jiang, Ym" uniqKey="Jiang Y">YM Jiang</name></author><author><name sortKey="Mo, Xa" uniqKey="Mo X">XA Mo</name></author><author><name sortKey="Du, Fq" uniqKey="Du F">FQ Du</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gospe, Sm" uniqKey="Gospe S">SM Gospe</name></author><author><name sortKey="Caruso, Rd" uniqKey="Caruso R">RD Caruso</name></author><author><name sortKey="Clegg, Ms" uniqKey="Clegg M">MS Clegg</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Park, Hk" uniqKey="Park H">HK Park</name></author><author><name sortKey="Kim, Sm" uniqKey="Kim S">SM Kim</name></author><author><name sortKey="Choi, Cg" uniqKey="Choi C">CG Choi</name></author><author><name sortKey="Lee, Mc" uniqKey="Lee M">MC Lee</name></author><author><name sortKey="Chung, Sj" uniqKey="Chung S">SJ Chung</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Huang, Cc" uniqKey="Huang C">CC Huang</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Olanow, Cw" uniqKey="Olanow C">CW Olanow</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Butterworth, Rf" uniqKey="Butterworth R">RF Butterworth</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Colosimo, C" uniqKey="Colosimo C">C Colosimo</name></author><author><name sortKey="Guidi, M" uniqKey="Guidi M">M Guidi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sanotsky, Y" uniqKey="Sanotsky Y">Y Sanotsky</name></author><author><name sortKey="Lesyk, R" uniqKey="Lesyk R">R Lesyk</name></author><author><name sortKey="Fedoryshyn, L" uniqKey="Fedoryshyn L">L Fedoryshyn</name></author><author><name sortKey="Komnatska, I" uniqKey="Komnatska I">I Komnatska</name></author><author><name sortKey="Matviyenko, Y" uniqKey="Matviyenko Y">Y Matviyenko</name></author><author><name sortKey="Fahn, S" uniqKey="Fahn S">S Fahn</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fitzgerald, K" uniqKey="Fitzgerald K">K Fitzgerald</name></author><author><name sortKey="Mikalunas, V" uniqKey="Mikalunas V">V Mikalunas</name></author><author><name sortKey="Rubin, H" uniqKey="Rubin H">H Rubin</name></author><author><name sortKey="Mccarthey, R" uniqKey="Mccarthey R">R McCarthey</name></author><author><name sortKey="Vanagunas, A" uniqKey="Vanagunas A">A Vanagunas</name></author><author><name sortKey="Craig, Rm" uniqKey="Craig R">RM Craig</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hardy, Ij" uniqKey="Hardy I">IJ Hardy</name></author><author><name sortKey="Gillanders, L" uniqKey="Gillanders L">L Gillanders</name></author><author><name sortKey="Hardy, G" uniqKey="Hardy G">G Hardy</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Reynolds, Ap" uniqKey="Reynolds A">AP Reynolds</name></author><author><name sortKey="Kiely, E" uniqKey="Kiely E">E Kiely</name></author><author><name sortKey="Meadows, N" uniqKey="Meadows N">N Meadows</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fell, Jm" uniqKey="Fell J">JM Fell</name></author><author><name sortKey="Reynolds, Ap" uniqKey="Reynolds A">AP Reynolds</name></author><author><name sortKey="Meadows, N" uniqKey="Meadows N">N Meadows</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nagatomo, S" uniqKey="Nagatomo S">S Nagatomo</name></author><author><name sortKey="Umehara, F" uniqKey="Umehara F">F Umehara</name></author><author><name sortKey="Hanada, K" uniqKey="Hanada K">K Hanada</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Brna, P" uniqKey="Brna P">P Brna</name></author><author><name sortKey="Gordon, K" uniqKey="Gordon K">K Gordon</name></author><author><name sortKey="Dooley, Jm" uniqKey="Dooley J">JM Dooley</name></author><author><name sortKey="Price, V" uniqKey="Price V">V Price</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ladurner, G" uniqKey="Ladurner G">G Ladurner</name></author><author><name sortKey="Kalvach, P" uniqKey="Kalvach P">P Kalvach</name></author><author><name sortKey="Moessler, H" uniqKey="Moessler H">H Moessler</name></author></analytic></biblStruct></listBibl></div1></back></TEI><double pmid="22926781"><pmc><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Dystonia with Brain Manganese Accumulation Resulting From <italic>SLC30A10</italic> Mutations: A New Treatable Disorder</title><author><name sortKey="Stamelou, Maria" sort="Stamelou, Maria" uniqKey="Stamelou M" first="Maria" last="Stamelou">Maria Stamelou</name><affiliation wicri:level="1"><nlm:aff id="au1"><institution>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Tuschl, Karin" sort="Tuschl, Karin" uniqKey="Tuschl K" first="Karin" last="Tuschl">Karin Tuschl</name><affiliation wicri:level="1"><nlm:aff id="au2"><institution>Clinical and Molecular Genetics Unit, University College London Institute of Child Health</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Chong, W K" sort="Chong, W K" uniqKey="Chong W" first="W K" last="Chong">W K Chong</name><affiliation wicri:level="1"><nlm:aff id="au3"><institution>Department of Radiology, Great Ormond Street Hospital for Children</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Burroughs, Andrew K" sort="Burroughs, Andrew K" uniqKey="Burroughs A" first="Andrew K" last="Burroughs">Andrew K. Burroughs</name><affiliation wicri:level="1"><nlm:aff id="au4"><institution>The Liver, Pancreatic, Biliary and Transplant Unit, The Wellington Hospital</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Mills, Philippa B" sort="Mills, Philippa B" uniqKey="Mills P" first="Philippa B" last="Mills">Philippa B. Mills</name><affiliation wicri:level="1"><nlm:aff id="au2"><institution>Clinical and Molecular Genetics Unit, University College London Institute of Child Health</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="1"><nlm:aff id="au1"><institution>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Clayton, Peter T" sort="Clayton, Peter T" uniqKey="Clayton P" first="Peter T" last="Clayton">Peter T. Clayton</name><affiliation wicri:level="1"><nlm:aff id="au2"><institution>Clinical and Molecular Genetics Unit, University College London Institute of Child Health</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22926781</idno><idno type="pmc">3664426</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664426</idno><idno type="RBID">PMC:3664426</idno><idno type="doi">10.1002/mds.25138</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">000460</idno><idno type="wicri:Area/Pmc/Curation">000460</idno><idno type="wicri:Area/Pmc/Checkpoint">000188</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Dystonia with Brain Manganese Accumulation Resulting From <italic>SLC30A10</italic> Mutations: A New Treatable Disorder</title><author><name sortKey="Stamelou, Maria" sort="Stamelou, Maria" uniqKey="Stamelou M" first="Maria" last="Stamelou">Maria Stamelou</name><affiliation wicri:level="1"><nlm:aff id="au1"><institution>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Tuschl, Karin" sort="Tuschl, Karin" uniqKey="Tuschl K" first="Karin" last="Tuschl">Karin Tuschl</name><affiliation wicri:level="1"><nlm:aff id="au2"><institution>Clinical and Molecular Genetics Unit, University College London Institute of Child Health</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Chong, W K" sort="Chong, W K" uniqKey="Chong W" first="W K" last="Chong">W K Chong</name><affiliation wicri:level="1"><nlm:aff id="au3"><institution>Department of Radiology, Great Ormond Street Hospital for Children</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Burroughs, Andrew K" sort="Burroughs, Andrew K" uniqKey="Burroughs A" first="Andrew K" last="Burroughs">Andrew K. Burroughs</name><affiliation wicri:level="1"><nlm:aff id="au4"><institution>The Liver, Pancreatic, Biliary and Transplant Unit, The Wellington Hospital</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Mills, Philippa B" sort="Mills, Philippa B" uniqKey="Mills P" first="Philippa B" last="Mills">Philippa B. Mills</name><affiliation wicri:level="1"><nlm:aff id="au2"><institution>Clinical and Molecular Genetics Unit, University College London Institute of Child Health</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="1"><nlm:aff id="au1"><institution>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author><author><name sortKey="Clayton, Peter T" sort="Clayton, Peter T" uniqKey="Clayton P" first="Peter T" last="Clayton">Peter T. Clayton</name><affiliation wicri:level="1"><nlm:aff id="au2"><institution>Clinical and Molecular Genetics Unit, University College London Institute of Child Health</institution><addr-line>London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>London</wicri:regionArea></affiliation></author></analytic><series><title level="j">Movement Disorders</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>The first gene causing early-onset generalized dystonia with brain manganese accumulation has recently been identified. Mutations in the <italic>SLC30A10</italic> gene, encoding a manganese transporter, cause a syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia.</p></sec><sec><title>Methods</title><p>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 <italic>SLC30A10</italic>.</p></sec><sec><title>Results</title><p>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.</p></sec><sec><title>Conclusions</title><p>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</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Tuschl, K" uniqKey="Tuschl K">K Tuschl</name></author><author><name sortKey="Clayton, Pt" uniqKey="Clayton P">PT Clayton</name></author><author><name sortKey="Gospe, Sm" uniqKey="Gospe S">SM Gospe</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tuschl, K" uniqKey="Tuschl K">K Tuschl</name></author><author><name sortKey="Mills, Pb" uniqKey="Mills P">PB Mills</name></author><author><name sortKey="Parsons, H" uniqKey="Parsons H">H Parsons</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Quadri, M" uniqKey="Quadri M">M Quadri</name></author><author><name sortKey="Federico, A" uniqKey="Federico A">A Federico</name></author><author><name sortKey="Zhao, T" uniqKey="Zhao T">T Zhao</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ebert, Bl" uniqKey="Ebert B">BL Ebert</name></author><author><name sortKey="Bunn, Hf" uniqKey="Bunn H">HF Bunn</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Yin, Z" uniqKey="Yin Z">Z Yin</name></author><author><name sortKey="Jiang, H" uniqKey="Jiang H">H Jiang</name></author><author><name sortKey="Lee, Es" uniqKey="Lee E">ES Lee</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Roth, Ja" uniqKey="Roth J">JA Roth</name></author><author><name sortKey="Garrick, Md" uniqKey="Garrick M">MD Garrick</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Crooks, Dr" uniqKey="Crooks D">DR Crooks</name></author><author><name sortKey="Ghosh, Mc" uniqKey="Ghosh M">MC Ghosh</name></author><author><name sortKey="Braun Sommargren, M" uniqKey="Braun Sommargren M">M Braun-Sommargren</name></author><author><name sortKey="Rouault, Ta" uniqKey="Rouault T">TA Rouault</name></author><author><name sortKey="Smith, Dr" uniqKey="Smith D">DR Smith</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fitsanakis, Va" uniqKey="Fitsanakis V">VA Fitsanakis</name></author><author><name sortKey="Zhang, N" uniqKey="Zhang N">N Zhang</name></author><author><name sortKey="Garcia, S" uniqKey="Garcia S">S Garcia</name></author><author><name sortKey="Aschner, M" uniqKey="Aschner M">M Aschner</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sedel, F" uniqKey="Sedel F">F Sedel</name></author><author><name sortKey="Saudubray, Jm" uniqKey="Saudubray J">JM Saudubray</name></author><author><name sortKey="Roze, E" uniqKey="Roze E">E Roze</name></author><author><name sortKey="Agid, Y" uniqKey="Agid Y">Y Agid</name></author><author><name sortKey="Vidailhet, M" uniqKey="Vidailhet M">M Vidailhet</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gouider Khouja, N" uniqKey="Gouider Khouja N">N Gouider-Khouja</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Madsen, E" uniqKey="Madsen E">E Madsen</name></author><author><name sortKey="Gitlin, Jd" uniqKey="Gitlin J">JD Gitlin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Schneider, Sa" uniqKey="Schneider S">SA Schneider</name></author><author><name sortKey="Hardy, J" uniqKey="Hardy J">J Hardy</name></author><author><name sortKey="Bhatia, Kp" uniqKey="Bhatia K">KP Bhatia</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Manyam, Bv" uniqKey="Manyam B">BV Manyam</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kim, Tj" uniqKey="Kim T">TJ Kim</name></author><author><name sortKey="Kim, Io" uniqKey="Kim I">IO Kim</name></author><author><name sortKey="Kim, Ws" uniqKey="Kim W">WS Kim</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hegde, An" uniqKey="Hegde A">AN Hegde</name></author><author><name sortKey="Mohan, S" uniqKey="Mohan S">S Mohan</name></author><author><name sortKey="Lath, N" uniqKey="Lath N">N Lath</name></author><author><name sortKey="Lim, Cc" uniqKey="Lim C">CC Lim</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Schneider, Sa" uniqKey="Schneider S">SA Schneider</name></author><author><name sortKey="Hardy, J" uniqKey="Hardy J">J Hardy</name></author><author><name sortKey="Bhatia, Kp" uniqKey="Bhatia K">KP Bhatia</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Zorzi, G" uniqKey="Zorzi G">G Zorzi</name></author><author><name sortKey="Zibordi, F" uniqKey="Zibordi F">F Zibordi</name></author><author><name sortKey="Chiapparini, L" uniqKey="Chiapparini L">L Chiapparini</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ferrara, J" uniqKey="Ferrara J">J Ferrara</name></author><author><name sortKey="Jankovic, J" uniqKey="Jankovic J">J Jankovic</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fernandez Rodriguez, R" uniqKey="Fernandez Rodriguez R">R Fernandez-Rodriguez</name></author><author><name sortKey="Contreras, A" uniqKey="Contreras A">A Contreras</name></author><author><name sortKey="De Villoria, Jg" uniqKey="De Villoria J">JG De Villoria</name></author><author><name sortKey="Grandas, F" uniqKey="Grandas F">F Grandas</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Furbee, B" uniqKey="Furbee B">B Furbee</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hardy, G" uniqKey="Hardy G">G Hardy</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sikk, K" uniqKey="Sikk K">K Sikk</name></author><author><name sortKey="Haldre, S" uniqKey="Haldre S">S Haldre</name></author><author><name sortKey="Aquilonius, Sm" uniqKey="Aquilonius S">SM Aquilonius</name></author><author><name sortKey="Taba, P" uniqKey="Taba P">P Taba</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Huang, Cc" uniqKey="Huang C">CC Huang</name></author><author><name sortKey="Weng, Yh" uniqKey="Weng Y">YH Weng</name></author><author><name sortKey="Lu, Cs" uniqKey="Lu C">CS Lu</name></author><author><name sortKey="Chu, Ns" uniqKey="Chu N">NS Chu</name></author><author><name sortKey="Yen, Tc" uniqKey="Yen T">TC Yen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kim, Y" uniqKey="Kim Y">Y Kim</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Selikhova, M" uniqKey="Selikhova M">M Selikhova</name></author><author><name sortKey="Fedoryshyn, L" uniqKey="Fedoryshyn L">L Fedoryshyn</name></author><author><name sortKey="Matviyenko, Y" uniqKey="Matviyenko Y">Y Matviyenko</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Burkhard, Pr" uniqKey="Burkhard P">PR Burkhard</name></author><author><name sortKey="Delavelle, J" uniqKey="Delavelle J">J Delavelle</name></author><author><name sortKey="Du Pasquier, R" uniqKey="Du Pasquier R">R Du Pasquier</name></author><author><name sortKey="Spahr, L" uniqKey="Spahr L">L Spahr</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Spahr, L" uniqKey="Spahr L">L Spahr</name></author><author><name sortKey="Butterworth, Rf" uniqKey="Butterworth R">RF Butterworth</name></author><author><name sortKey="Fontaine, S" uniqKey="Fontaine S">S Fontaine</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Olanow, Cw" uniqKey="Olanow C">CW Olanow</name></author><author><name sortKey="Good, Pf" uniqKey="Good P">PF Good</name></author><author><name sortKey="Shinotoh, H" uniqKey="Shinotoh H">H Shinotoh</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Calne, Db" uniqKey="Calne D">DB Calne</name></author><author><name sortKey="Chu, Ns" uniqKey="Chu N">NS Chu</name></author><author><name sortKey="Huang, Cc" uniqKey="Huang C">CC Huang</name></author><author><name sortKey="Lu, Cs" uniqKey="Lu C">CS Lu</name></author><author><name sortKey="Olanow, W" uniqKey="Olanow W">W Olanow</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Discalzi, G" uniqKey="Discalzi G">G Discalzi</name></author><author><name sortKey="Pira, E" uniqKey="Pira E">E Pira</name></author><author><name sortKey="Herrero Hernandez, E" uniqKey="Herrero Hernandez E">E Herrero Hernandez</name></author><author><name sortKey="Valentini, C" uniqKey="Valentini C">C Valentini</name></author><author><name sortKey="Turbiglio, M" uniqKey="Turbiglio M">M Turbiglio</name></author><author><name sortKey="Meliga, F" uniqKey="Meliga F">F Meliga</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Herrero Hernandez, E" uniqKey="Herrero Hernandez E">E Herrero Hernandez</name></author><author><name sortKey="Discalzi, G" uniqKey="Discalzi G">G Discalzi</name></author><author><name sortKey="Valentini, C" uniqKey="Valentini C">C Valentini</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Angle, Cr" uniqKey="Angle C">CR Angle</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Blanusa, M" uniqKey="Blanusa M">M Blanusa</name></author><author><name sortKey="Varnai, Vm" uniqKey="Varnai V">VM Varnai</name></author><author><name sortKey="Piasek, M" uniqKey="Piasek M">M Piasek</name></author><author><name sortKey="Kostial, K" uniqKey="Kostial K">K Kostial</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Jiang, Ym" uniqKey="Jiang Y">YM Jiang</name></author><author><name sortKey="Mo, Xa" uniqKey="Mo X">XA Mo</name></author><author><name sortKey="Du, Fq" uniqKey="Du F">FQ Du</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gospe, Sm" uniqKey="Gospe S">SM Gospe</name></author><author><name sortKey="Caruso, Rd" uniqKey="Caruso R">RD Caruso</name></author><author><name sortKey="Clegg, Ms" uniqKey="Clegg M">MS Clegg</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Park, Hk" uniqKey="Park H">HK Park</name></author><author><name sortKey="Kim, Sm" uniqKey="Kim S">SM Kim</name></author><author><name sortKey="Choi, Cg" uniqKey="Choi C">CG Choi</name></author><author><name sortKey="Lee, Mc" uniqKey="Lee M">MC Lee</name></author><author><name sortKey="Chung, Sj" uniqKey="Chung S">SJ Chung</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Huang, Cc" uniqKey="Huang C">CC Huang</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Olanow, Cw" uniqKey="Olanow C">CW Olanow</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Butterworth, Rf" uniqKey="Butterworth R">RF Butterworth</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Colosimo, C" uniqKey="Colosimo C">C Colosimo</name></author><author><name sortKey="Guidi, M" uniqKey="Guidi M">M Guidi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sanotsky, Y" uniqKey="Sanotsky Y">Y Sanotsky</name></author><author><name sortKey="Lesyk, R" uniqKey="Lesyk R">R Lesyk</name></author><author><name sortKey="Fedoryshyn, L" uniqKey="Fedoryshyn L">L Fedoryshyn</name></author><author><name sortKey="Komnatska, I" uniqKey="Komnatska I">I Komnatska</name></author><author><name sortKey="Matviyenko, Y" uniqKey="Matviyenko Y">Y Matviyenko</name></author><author><name sortKey="Fahn, S" uniqKey="Fahn S">S Fahn</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fitzgerald, K" uniqKey="Fitzgerald K">K Fitzgerald</name></author><author><name sortKey="Mikalunas, V" uniqKey="Mikalunas V">V Mikalunas</name></author><author><name sortKey="Rubin, H" uniqKey="Rubin H">H Rubin</name></author><author><name sortKey="Mccarthey, R" uniqKey="Mccarthey R">R McCarthey</name></author><author><name sortKey="Vanagunas, A" uniqKey="Vanagunas A">A Vanagunas</name></author><author><name sortKey="Craig, Rm" uniqKey="Craig R">RM Craig</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hardy, Ij" uniqKey="Hardy I">IJ Hardy</name></author><author><name sortKey="Gillanders, L" uniqKey="Gillanders L">L Gillanders</name></author><author><name sortKey="Hardy, G" uniqKey="Hardy G">G Hardy</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Reynolds, Ap" uniqKey="Reynolds A">AP Reynolds</name></author><author><name sortKey="Kiely, E" uniqKey="Kiely E">E Kiely</name></author><author><name sortKey="Meadows, N" uniqKey="Meadows N">N Meadows</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fell, Jm" uniqKey="Fell J">JM Fell</name></author><author><name sortKey="Reynolds, Ap" uniqKey="Reynolds A">AP Reynolds</name></author><author><name sortKey="Meadows, N" uniqKey="Meadows N">N Meadows</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nagatomo, S" uniqKey="Nagatomo S">S Nagatomo</name></author><author><name sortKey="Umehara, F" uniqKey="Umehara F">F Umehara</name></author><author><name sortKey="Hanada, K" uniqKey="Hanada K">K Hanada</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Brna, P" uniqKey="Brna P">P Brna</name></author><author><name sortKey="Gordon, K" uniqKey="Gordon K">K Gordon</name></author><author><name sortKey="Dooley, Jm" uniqKey="Dooley J">JM Dooley</name></author><author><name sortKey="Price, V" uniqKey="Price V">V Price</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ladurner, G" uniqKey="Ladurner G">G Ladurner</name></author><author><name sortKey="Kalvach, P" uniqKey="Kalvach P">P Kalvach</name></author><author><name sortKey="Moessler, H" uniqKey="Moessler H">H Moessler</name></author></analytic></biblStruct></listBibl></div1></back></TEI></pmc><pubmed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.</title><author><name sortKey="Stamelou, Maria" sort="Stamelou, Maria" uniqKey="Stamelou M" first="Maria" last="Stamelou">Maria Stamelou</name><affiliation wicri:level="3"><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Tuschl, Karin" sort="Tuschl, Karin" uniqKey="Tuschl K" first="Karin" last="Tuschl">Karin Tuschl</name></author><author><name sortKey="Chong, W K" sort="Chong, W K" uniqKey="Chong W" first="W K" last="Chong">W K Chong</name></author><author><name sortKey="Burroughs, Andrew K" sort="Burroughs, Andrew K" uniqKey="Burroughs A" first="Andrew K" last="Burroughs">Andrew K. Burroughs</name></author><author><name sortKey="Mills, Philippa B" sort="Mills, Philippa B" uniqKey="Mills P" first="Philippa B" last="Mills">Philippa B. Mills</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author><author><name sortKey="Clayton, Peter T" sort="Clayton, Peter T" uniqKey="Clayton P" first="Peter T" last="Clayton">Peter T. Clayton</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.25138</idno><idno type="RBID">pubmed:22926781</idno><idno type="pmid">22926781</idno><idno type="wicri:Area/PubMed/Corpus">000C70</idno><idno type="wicri:Area/PubMed/Curation">000C70</idno><idno type="wicri:Area/PubMed/Checkpoint">000E42</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.</title><author><name sortKey="Stamelou, Maria" sort="Stamelou, Maria" uniqKey="Stamelou M" first="Maria" last="Stamelou">Maria Stamelou</name><affiliation wicri:level="3"><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Tuschl, Karin" sort="Tuschl, Karin" uniqKey="Tuschl K" first="Karin" last="Tuschl">Karin Tuschl</name></author><author><name sortKey="Chong, W K" sort="Chong, W K" uniqKey="Chong W" first="W K" last="Chong">W K Chong</name></author><author><name sortKey="Burroughs, Andrew K" sort="Burroughs, Andrew K" uniqKey="Burroughs A" first="Andrew K" last="Burroughs">Andrew K. Burroughs</name></author><author><name sortKey="Mills, Philippa B" sort="Mills, Philippa B" uniqKey="Mills P" first="Philippa B" last="Mills">Philippa B. Mills</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author><author><name sortKey="Clayton, Peter T" sort="Clayton, Peter T" uniqKey="Clayton P" first="Peter T" last="Clayton">Peter T. Clayton</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brain (metabolism)</term><term>Cation Transport Proteins (genetics)</term><term>Chelating Agents (therapeutic use)</term><term>Dystonia (drug therapy)</term><term>Dystonia (genetics)</term><term>Dystonia (pathology)</term><term>Female</term><term>Humans</term><term>Longitudinal Studies</term><term>Magnetic Resonance Imaging</term><term>Manganese (metabolism)</term><term>Mutation (genetics)</term><term>Pentetic Acid (therapeutic use)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cation Transport Proteins</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term><term>Manganese</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Chelating Agents</term><term>Pentetic Acid</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Humans</term><term>Longitudinal Studies</term><term>Magnetic Resonance Imaging</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI></pubmed></double></record>Pour manipuler ce document sous Unix (Dilib)
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