MovDisordV3, Main, Exploration, bibRecord, 000F98

Reversible Generalized Dystonia and Encephalopathy from Thiamine Transporter 2 Deficiency

Identifieur interne : 000F98 ( Main/Exploration ); précédent : 000F97; suivant : 000F99

Reversible 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.

RBID : Pascal:12-0369641

Descripteurs français

Pascal (Inist)
- Dystonie, Encéphalopathie, Pathologie du système nerveux, Biotine, Noyau gris central, Nécrose, Vitamine B, Carence vitaminique thiamine, Transporteur thiamine THTR-2.

English descriptors

KwdEn :
- B-Vitamins, Basal ganglion, Biotin, Dystonia, Encephalopathy, Necrosis, Nervous system diseases, THTR-2 thiamine transporter.

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.

Affiliations:

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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Reversible Generalized Dystonia and Encephalopathy from Thiamine Transporter 2 Deficiency</title>
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<author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name>
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<author><name sortKey="Rastetter, Agnes" sort="Rastetter, Agnes" uniqKey="Rastetter A" first="Agnes" last="Rastetter">Agnes Rastetter</name>
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<placeName><settlement type="city">Paris</settlement>
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<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>
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<author><name sortKey="Muchart, Jordi" sort="Muchart, Jordi" uniqKey="Muchart J" first="Jordi" last="Muchart">Jordi Muchart</name>
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<author><name sortKey="Martorell, Loreto" sort="Martorell, Loreto" uniqKey="Martorell L" first="Loreto" last="Martorell">Loreto Martorell</name>
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<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>
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<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>
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<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>
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<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
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</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>
<affiliations><list><country><li>Espagne</li>
<li>France</li>
</country>
<region><li>Catalogne</li>
</region>
<settlement><li>Barcelone</li>
<li>Paris</li>
</settlement>
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<tree><country name="Espagne"><region name="Catalogne"><name sortKey="Serrano, Mercedes" sort="Serrano, Mercedes" uniqKey="Serrano M" first="Mercedes" last="Serrano">Mercedes Serrano</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Reversible Generalized Dystonia and Encephalopathy from Thiamine Transporter 2 Deficiency

Reversible Generalized Dystonia and Encephalopathy from Thiamine Transporter 2 Deficiency

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