Reversible Generalized Dystonia and Encephalopathy from Thiamine Transporter 2 Deficiency
Identifieur interne : 000071 ( PascalFrancis/Checkpoint ); précédent : 000070; suivant : 000072Reversible Generalized Dystonia and Encephalopathy from Thiamine Transporter 2 Deficiency
Auteurs : Mercedes Serrano [Espagne] ; Monica Rebollo [Espagne] ; Christel Depienne [France] ; Agnes Rastetter [France] ; Emilio Fernandez-Alvarez [Espagne] ; Jordi Muchart [Espagne] ; Loreto Martorell [Espagne] ; Rafael Artuch [Espagne] ; José A. Obeso [Espagne] ; Belén Perez-Duenas [Espagne]Source :
- Movement disorders [ 0885-3185 ] ; 2012.
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Abstract
Background: Thiamine transporter-2 deficiency, a condition resulting from mutations in the SLC19A3 gene, has been described in patients with subacute dystonia and striatal necrosis. The condition responds extremely well to treatment with biotin and has thus been named biotin-responsive basal ganglia disease. Recently, this deficiency has also been related to Wernicke's-like encephalopathy and atypical infantile spasms, showing heterogeneous responses to biotin and/or thiamine. Methods: Two Spanish siblings with a biotin-responsive basal ganglia disease phenotype and mutations in SLC19A3 presented with acute episodes of generalized dystonia, rigidity, and symmetrical lesions involving the striatum, midline nuclei of the thalami, and the cortex of cerebral hemispheres as shown by magnetic resonance imaging. Results: The clinical features resolved rapidly after thiamine administration. Conclusions: Despite the rarity of thiamine transporter-2 deficiency, it should be suspected in patients with acute dystonia and basal ganglia injury, as thiamine can halt disease evolution and prevent further episodes.
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type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Fernandez Alvarez, Emilio" sort="Fernandez Alvarez, Emilio" uniqKey="Fernandez Alvarez E" first="Emilio" last="Fernandez-Alvarez">Emilio Fernandez-Alvarez</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Child Neurology and Radiology Departments, Hospital Sant Joan de Déu</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Muchart, Jordi" sort="Muchart, Jordi" uniqKey="Muchart J" first="Jordi" last="Muchart">Jordi Muchart</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Child Neurology and Radiology Departments, Hospital Sant Joan de Déu</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Martorell, Loreto" sort="Martorell, Loreto" uniqKey="Martorell L" first="Loreto" last="Martorell">Loreto Martorell</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Clinical Biochemistry and Molecular Genetics Departments, Hospital Sant Joan de Déu</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Artuch, Rafael" sort="Artuch, Rafael" uniqKey="Artuch R" first="Rafael" last="Artuch">Rafael Artuch</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Clinical Biochemistry and Molecular Genetics Departments, Hospital Sant Joan de Déu</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Obeso, Jose A" sort="Obeso, Jose A" uniqKey="Obeso J" first="José A." last="Obeso">José A. Obeso</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Clinica Universitaria and Medical School, CIMA-Neuroscience and CIBERNED, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>9 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation></author><author><name sortKey="Perez Duenas, Belen" sort="Perez Duenas, Belen" uniqKey="Perez Duenas B" first="Belén" last="Perez-Duenas">Belén Perez-Duenas</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Child Neurology and Radiology Departments, Hospital Sant Joan de Déu</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">12-0369641</idno><date when="2012">2012</date><idno type="stanalyst">PASCAL 12-0369641 INIST</idno><idno type="RBID">Pascal:12-0369641</idno><idno type="wicri:Area/PascalFrancis/Corpus">000085</idno><idno type="wicri:Area/PascalFrancis/Curation">002C29</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000071</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Reversible Generalized Dystonia and Encephalopathy from Thiamine Transporter 2 Deficiency</title><author><name sortKey="Serrano, Mercedes" sort="Serrano, Mercedes" uniqKey="Serrano M" first="Mercedes" last="Serrano">Mercedes Serrano</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Child Neurology and Radiology Departments, Hospital Sant Joan de Déu</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Rebollo, Monica" sort="Rebollo, Monica" uniqKey="Rebollo M" first="Monica" last="Rebollo">Monica Rebollo</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Child Neurology and Radiology Departments, Hospital Sant Joan de Déu</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Département de génétique et cytogénétique, Centre de génétique moléculaire et chromosomique, Assistance Publique-Hôpitaux de Paris, et Université Pierre et Marie Curie (Paris VI), Hôpital de la Pitié-Salpêtrière</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Inserm UMRS_975 (CRICM), Hôpital de la Pitié-Salpêtrière</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Rastetter, Agnes" sort="Rastetter, Agnes" uniqKey="Rastetter A" first="Agnes" last="Rastetter">Agnes Rastetter</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Inserm UMRS_975 (CRICM), Hôpital de la Pitié-Salpêtrière</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Fernandez Alvarez, Emilio" sort="Fernandez Alvarez, Emilio" uniqKey="Fernandez Alvarez E" first="Emilio" last="Fernandez-Alvarez">Emilio Fernandez-Alvarez</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Child Neurology and Radiology Departments, Hospital Sant Joan de Déu</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Muchart, Jordi" sort="Muchart, Jordi" uniqKey="Muchart J" first="Jordi" last="Muchart">Jordi Muchart</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Child Neurology and Radiology Departments, Hospital Sant Joan de Déu</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Martorell, Loreto" sort="Martorell, Loreto" uniqKey="Martorell L" first="Loreto" last="Martorell">Loreto Martorell</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Clinical Biochemistry and Molecular Genetics Departments, Hospital Sant Joan de Déu</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Artuch, Rafael" sort="Artuch, Rafael" uniqKey="Artuch R" first="Rafael" last="Artuch">Rafael Artuch</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Clinical Biochemistry and Molecular Genetics Departments, Hospital Sant Joan de Déu</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Obeso, Jose A" sort="Obeso, Jose A" uniqKey="Obeso J" first="José A." last="Obeso">José A. Obeso</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Clinica Universitaria and Medical School, CIMA-Neuroscience and CIBERNED, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>9 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation></author><author><name sortKey="Perez Duenas, Belen" sort="Perez Duenas, Belen" uniqKey="Perez Duenas B" first="Belén" last="Perez-Duenas">Belén Perez-Duenas</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Child Neurology and Radiology Departments, Hospital Sant Joan de Déu</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>B-Vitamins</term><term>Basal ganglion</term><term>Biotin</term><term>Dystonia</term><term>Encephalopathy</term><term>Necrosis</term><term>Nervous system diseases</term><term>THTR-2 thiamine transporter</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Encéphalopathie</term><term>Pathologie du système nerveux</term><term>Biotine</term><term>Noyau gris central</term><term>Nécrose</term><term>Vitamine B</term><term>Carence vitaminique thiamine</term><term>Transporteur thiamine THTR-2</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: Thiamine transporter-2 deficiency, a condition resulting from mutations in the SLC19A3 gene, has been described in patients with subacute dystonia and striatal necrosis. The condition responds extremely well to treatment with biotin and has thus been named biotin-responsive basal ganglia disease. Recently, this deficiency has also been related to Wernicke's-like encephalopathy and atypical infantile spasms, showing heterogeneous responses to biotin and/or thiamine. Methods: Two Spanish siblings with a biotin-responsive basal ganglia disease phenotype and mutations in SLC19A3 presented with acute episodes of generalized dystonia, rigidity, and symmetrical lesions involving the striatum, midline nuclei of the thalami, and the cortex of cerebral hemispheres as shown by magnetic resonance imaging. Results: The clinical features resolved rapidly after thiamine administration. Conclusions: Despite the rarity of thiamine transporter-2 deficiency, it should be suspected in patients with acute dystonia and basal ganglia injury, as thiamine can halt disease evolution and prevent further episodes.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>27</s2></fA05><fA06><s2>10</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Reversible Generalized Dystonia and Encephalopathy from Thiamine Transporter 2 Deficiency</s1></fA08><fA11 i1="01" i2="1"><s1>SERRANO (Mercedes)</s1></fA11><fA11 i1="02" i2="1"><s1>REBOLLO (Monica)</s1></fA11><fA11 i1="03" i2="1"><s1>DEPIENNE (Christel)</s1></fA11><fA11 i1="04" i2="1"><s1>RASTETTER (Agnes)</s1></fA11><fA11 i1="05" i2="1"><s1>FERNANDEZ-ALVAREZ (Emilio)</s1></fA11><fA11 i1="06" i2="1"><s1>MUCHART (Jordi)</s1></fA11><fA11 i1="07" i2="1"><s1>MARTORELL (Loreto)</s1></fA11><fA11 i1="08" i2="1"><s1>ARTUCH (Rafael)</s1></fA11><fA11 i1="09" i2="1"><s1>OBESO (José A.)</s1></fA11><fA11 i1="10" i2="1"><s1>PEREZ-DUENAS (Belén)</s1></fA11><fA14 i1="01"><s1>Child Neurology and Radiology Departments, Hospital Sant Joan de Déu</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>10 aut.</sZ></fA14><fA14 i1="02"><s1>Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></fA14><fA14 i1="03"><s1>Département de génétique et cytogénétique, Centre de génétique moléculaire et chromosomique, Assistance Publique-Hôpitaux de Paris, et Université Pierre et Marie Curie (Paris VI), Hôpital de la Pitié-Salpêtrière</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ></fA14><fA14 i1="04"><s1>Inserm UMRS_975 (CRICM), Hôpital de la Pitié-Salpêtrière</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></fA14><fA14 i1="05"><s1>Clinical Biochemistry and Molecular Genetics Departments, Hospital Sant Joan de Déu</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Neurology, Clinica Universitaria and Medical School, CIMA-Neuroscience and CIBERNED, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>9 aut.</sZ></fA14><fA20><s1>1295-1299</s1></fA20><fA21><s1>2012</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000502011860180</s5></fA43><fA44><s0>0000</s0><s1>© 2012 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>7 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>12-0369641</s0></fA47><fA60><s1>P</s1><s3>CC</s3></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>Background: Thiamine transporter-2 deficiency, a condition resulting from mutations in the SLC19A3 gene, has been described in patients with subacute dystonia and striatal necrosis. The condition responds extremely well to treatment with biotin and has thus been named biotin-responsive basal ganglia disease. Recently, this deficiency has also been related to Wernicke's-like encephalopathy and atypical infantile spasms, showing heterogeneous responses to biotin and/or thiamine. Methods: Two Spanish siblings with a biotin-responsive basal ganglia disease phenotype and mutations in SLC19A3 presented with acute episodes of generalized dystonia, rigidity, and symmetrical lesions involving the striatum, midline nuclei of the thalami, and the cortex of cerebral hemispheres as shown by magnetic resonance imaging. Results: The clinical features resolved rapidly after thiamine administration. Conclusions: Despite the rarity of thiamine transporter-2 deficiency, it should be suspected in patients with acute dystonia and basal ganglia injury, as thiamine can halt disease evolution and prevent further episodes.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17H</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Dystonie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Dystonia</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Distonía</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Encéphalopathie</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Encephalopathy</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Encefalopatía</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>03</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Biotine</s0><s2>FR</s2><s5>09</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Biotin</s0><s2>FR</s2><s5>09</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Biotina</s0><s2>FR</s2><s5>09</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Noyau gris central</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Basal ganglion</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Núcleo basal</s0><s5>10</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Nécrose</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Necrosis</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Necrosis</s0><s5>11</s5></fC03><fC03 i1="07" i2="X" l="FRE"><s0>Vitamine B</s0><s5>78</s5></fC03><fC03 i1="07" i2="X" l="ENG"><s0>B-Vitamins</s0><s5>78</s5></fC03><fC03 i1="07" i2="X" l="SPA"><s0>Vitamina B</s0><s5>78</s5></fC03><fC03 i1="08" i2="X" l="FRE"><s0>Carence vitaminique thiamine</s0><s4>INC</s4><s5>86</s5></fC03><fC03 i1="09" i2="X" l="FRE"><s0>Transporteur thiamine THTR-2</s0><s4>CD</s4><s5>96</s5></fC03><fC03 i1="09" i2="X" l="ENG"><s0>THTR-2 thiamine transporter</s0><s4>CD</s4><s5>96</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Mouvement involontaire</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Involuntary movement</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Movimiento involuntario</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Pathologie du muscle strié</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>42</s5></fC07><fC07 i1="06" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>43</s5></fC07><fC07 i1="07" i2="X" l="FRE"><s0>Trouble de la nutrition</s0><s5>44</s5></fC07><fC07 i1="07" i2="X" l="ENG"><s0>Nutrition disorder</s0><s5>44</s5></fC07><fC07 i1="07" i2="X" l="SPA"><s0>Trastorno nutricíon</s0><s5>44</s5></fC07><fC07 i1="08" i2="X" l="FRE"><s0>Encéphale</s0><s5>45</s5></fC07><fC07 i1="08" i2="X" l="ENG"><s0>Encephalon</s0><s5>45</s5></fC07><fC07 i1="08" i2="X" l="SPA"><s0>Encéfalo</s0><s5>45</s5></fC07><fC07 i1="09" i2="X" l="FRE"><s0>Système nerveux central</s0><s5>46</s5></fC07><fC07 i1="09" i2="X" l="ENG"><s0>Central nervous system</s0><s5>46</s5></fC07><fC07 i1="09" i2="X" l="SPA"><s0>Sistema nervioso central</s0><s5>46</s5></fC07><fN21><s1>289</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><affiliations><list><country><li>Espagne</li><li>France</li></country><region><li>Catalogne</li></region><settlement><li>Barcelone</li><li>Paris</li></settlement></list><tree><country name="Espagne"><region name="Catalogne"><name sortKey="Serrano, Mercedes" sort="Serrano, Mercedes" uniqKey="Serrano M" first="Mercedes" last="Serrano">Mercedes Serrano</name></region><name sortKey="Artuch, Rafael" sort="Artuch, Rafael" uniqKey="Artuch R" first="Rafael" last="Artuch">Rafael Artuch</name><name sortKey="Artuch, Rafael" sort="Artuch, Rafael" uniqKey="Artuch R" first="Rafael" last="Artuch">Rafael Artuch</name><name sortKey="Fernandez Alvarez, Emilio" sort="Fernandez Alvarez, Emilio" uniqKey="Fernandez Alvarez E" first="Emilio" last="Fernandez-Alvarez">Emilio Fernandez-Alvarez</name><name sortKey="Martorell, Loreto" sort="Martorell, Loreto" uniqKey="Martorell L" first="Loreto" last="Martorell">Loreto Martorell</name><name sortKey="Muchart, Jordi" sort="Muchart, Jordi" uniqKey="Muchart J" first="Jordi" last="Muchart">Jordi Muchart</name><name sortKey="Obeso, Jose A" sort="Obeso, Jose A" uniqKey="Obeso J" first="José A." last="Obeso">José A. Obeso</name><name sortKey="Perez Duenas, Belen" sort="Perez Duenas, Belen" uniqKey="Perez Duenas B" first="Belén" last="Perez-Duenas">Belén Perez-Duenas</name><name sortKey="Perez Duenas, Belen" sort="Perez Duenas, Belen" uniqKey="Perez Duenas B" first="Belén" last="Perez-Duenas">Belén Perez-Duenas</name><name sortKey="Rebollo, Monica" sort="Rebollo, Monica" uniqKey="Rebollo M" first="Monica" last="Rebollo">Monica Rebollo</name><name sortKey="Serrano, Mercedes" sort="Serrano, Mercedes" uniqKey="Serrano M" first="Mercedes" last="Serrano">Mercedes Serrano</name></country><country name="France"><noRegion><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name></noRegion><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><name sortKey="Rastetter, Agnes" sort="Rastetter, Agnes" uniqKey="Rastetter A" first="Agnes" last="Rastetter">Agnes Rastetter</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= Reversible Generalized Dystonia and Encephalopathy from Thiamine Transporter 2 Deficiency
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