MovDisordV3, PascalFrancis, Corpus, bibRecord, 000085

Reversible Generalized Dystonia and Encephalopathy from Thiamine Transporter 2 Deficiency

Identifieur interne : 000085 ( PascalFrancis/Corpus ); précédent : 000084; suivant : 000086

Reversible Generalized Dystonia and Encephalopathy from Thiamine Transporter 2 Deficiency

Auteurs : Mercedes Serrano ; Monica Rebollo ; Christel Depienne ; Agnes Rastetter ; Emilio Fernandez-Alvarez ; Jordi Muchart ; Loreto Martorell ; Rafael Artuch ; José A. Obeso ; Belén Perez-Duenas

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08	`01`	`1`	`ENG`	`@1 Reversible Generalized Dystonia and Encephalopathy from Thiamine Transporter 2 Deficiency`
A11	`01`	`1`		`@1 SERRANO (Mercedes)`
A11	`02`	`1`		`@1 REBOLLO (Monica)`
A11	`03`	`1`		`@1 DEPIENNE (Christel)`
A11	`04`	`1`		`@1 RASTETTER (Agnes)`
A11	`05`	`1`		`@1 FERNANDEZ-ALVAREZ (Emilio)`
A11	`06`	`1`		`@1 MUCHART (Jordi)`
A11	`07`	`1`		`@1 MARTORELL (Loreto)`
A11	`08`	`1`		`@1 ARTUCH (Rafael)`
A11	`09`	`1`		`@1 OBESO (José A.)`
A11	`10`	`1`		`@1 PEREZ-DUENAS (Belén)`
A14	`01`			`@1 Child Neurology and Radiology Departments, Hospital Sant Joan de Déu @2 Barcelona @3 ESP @Z 1 aut. @Z 2 aut. @Z 5 aut. @Z 6 aut. @Z 10 aut.`
A14	`02`			`@1 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III @2 Barcelona @3 ESP @Z 1 aut. @Z 8 aut. @Z 10 aut.`
A14	`03`			`@1 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 @2 Paris @3 FRA @Z 3 aut.`
A14	`04`			`@1 Inserm UMRS_975 (CRICM), Hôpital de la Pitié-Salpêtrière @2 Paris @3 FRA @Z 3 aut. @Z 4 aut.`
A14	`05`			`@1 Clinical Biochemistry and Molecular Genetics Departments, Hospital Sant Joan de Déu @2 Barcelona @3 ESP @Z 7 aut. @Z 8 aut.`
A14	`06`			`@1 Department of Neurology, Clinica Universitaria and Medical School, CIMA-Neuroscience and CIBERNED, University of Navarra @2 Pamplona @3 ESP @Z 9 aut.`
A20				`@1 1295-1299`
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A23	`01`			`@0 ENG`
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A44				`@0 0000 @1 © 2012 INIST-CNRS. All rights reserved.`
A45				`@0 7 ref.`
A47	`01`	`1`		`@0 12-0369641`
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A61				`@0 A`
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A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17H`
C03	`01`	`X`	`FRE`	`@0 Dystonie @5 01`
C03	`01`	`X`	`ENG`	`@0 Dystonia @5 01`
C03	`01`	`X`	`SPA`	`@0 Distonía @5 01`
C03	`02`	`X`	`FRE`	`@0 Encéphalopathie @5 02`
C03	`02`	`X`	`ENG`	`@0 Encephalopathy @5 02`
C03	`02`	`X`	`SPA`	`@0 Encefalopatía @5 02`
C03	`03`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 03`
C03	`03`	`X`	`ENG`	`@0 Nervous system diseases @5 03`
C03	`03`	`X`	`SPA`	`@0 Sistema nervioso patología @5 03`
C03	`04`	`X`	`FRE`	`@0 Biotine @2 FR @5 09`
C03	`04`	`X`	`ENG`	`@0 Biotin @2 FR @5 09`
C03	`04`	`X`	`SPA`	`@0 Biotina @2 FR @5 09`
C03	`05`	`X`	`FRE`	`@0 Noyau gris central @5 10`
C03	`05`	`X`	`ENG`	`@0 Basal ganglion @5 10`
C03	`05`	`X`	`SPA`	`@0 Núcleo basal @5 10`
C03	`06`	`X`	`FRE`	`@0 Nécrose @5 11`
C03	`06`	`X`	`ENG`	`@0 Necrosis @5 11`
C03	`06`	`X`	`SPA`	`@0 Necrosis @5 11`
C03	`07`	`X`	`FRE`	`@0 Vitamine B @5 78`
C03	`07`	`X`	`ENG`	`@0 B-Vitamins @5 78`
C03	`07`	`X`	`SPA`	`@0 Vitamina B @5 78`
C03	`08`	`X`	`FRE`	`@0 Carence vitaminique thiamine @4 INC @5 86`
C03	`09`	`X`	`FRE`	`@0 Transporteur thiamine THTR-2 @4 CD @5 96`
C03	`09`	`X`	`ENG`	`@0 THTR-2 thiamine transporter @4 CD @5 96`
C07	`01`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 37`
C07	`01`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 37`
C07	`01`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 37`
C07	`02`	`X`	`FRE`	`@0 Mouvement involontaire @5 38`
C07	`02`	`X`	`ENG`	`@0 Involuntary movement @5 38`
C07	`02`	`X`	`SPA`	`@0 Movimiento involuntario @5 38`
C07	`03`	`X`	`FRE`	`@0 Pathologie du muscle strié @5 39`
C07	`03`	`X`	`ENG`	`@0 Striated muscle disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Músculo estriado patología @5 39`
C07	`04`	`X`	`FRE`	`@0 Trouble neurologique @5 41`
C07	`04`	`X`	`ENG`	`@0 Neurological disorder @5 41`
C07	`04`	`X`	`SPA`	`@0 Trastorno neurológico @5 41`
C07	`05`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 42`
C07	`05`	`X`	`ENG`	`@0 Cerebral disorder @5 42`
C07	`05`	`X`	`SPA`	`@0 Encéfalo patología @5 42`
C07	`06`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 43`
C07	`06`	`X`	`ENG`	`@0 Central nervous system disease @5 43`
C07	`06`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 43`
C07	`07`	`X`	`FRE`	`@0 Trouble de la nutrition @5 44`
C07	`07`	`X`	`ENG`	`@0 Nutrition disorder @5 44`
C07	`07`	`X`	`SPA`	`@0 Trastorno nutricíon @5 44`
C07	`08`	`X`	`FRE`	`@0 Encéphale @5 45`
C07	`08`	`X`	`ENG`	`@0 Encephalon @5 45`
C07	`08`	`X`	`SPA`	`@0 Encéfalo @5 45`
C07	`09`	`X`	`FRE`	`@0 Système nerveux central @5 46`
C07	`09`	`X`	`ENG`	`@0 Central nervous system @5 46`
C07	`09`	`X`	`SPA`	`@0 Sistema nervioso central @5 46`
N21				`@1 289`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 12-0369641 INIST
ET :	Reversible Generalized Dystonia and Encephalopathy from Thiamine Transporter 2 Deficiency
AU :	SERRANO (Mercedes); REBOLLO (Monica); DEPIENNE (Christel); RASTETTER (Agnes); FERNANDEZ-ALVAREZ (Emilio); MUCHART (Jordi); MARTORELL (Loreto); ARTUCH (Rafael); OBESO (José A.); PEREZ-DUENAS (Belén)
AF :	Child Neurology and Radiology Departments, Hospital Sant Joan de Déu/Barcelona/Espagne (1 aut., 2 aut., 5 aut., 6 aut., 10 aut.); Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III/Barcelona/Espagne (1 aut., 8 aut., 10 aut.); 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/Paris/France (3 aut.); Inserm UMRS_975 (CRICM), Hôpital de la Pitié-Salpêtrière/Paris/France (3 aut., 4 aut.); Clinical Biochemistry and Molecular Genetics Departments, Hospital Sant Joan de Déu/Barcelona/Espagne (7 aut., 8 aut.); Department of Neurology, Clinica Universitaria and Medical School, CIMA-Neuroscience and CIBERNED, University of Navarra/Pamplona/Espagne (9 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2012; Vol. 27; No. 10; Pp. 1295-1299; Bibl. 7 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17H
FD :	Dystonie; Encéphalopathie; Pathologie du système nerveux; Biotine; Noyau gris central; Nécrose; Vitamine B; Carence vitaminique thiamine; Transporteur thiamine THTR-2
FG :	Syndrome extrapyramidal; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique; Pathologie de l'encéphale; Pathologie du système nerveux central; Trouble de la nutrition; Encéphale; Système nerveux central
ED :	Dystonia; Encephalopathy; Nervous system diseases; Biotin; Basal ganglion; Necrosis; B-Vitamins; THTR-2 thiamine transporter
EG :	Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease; Nutrition disorder; Encephalon; Central nervous system
SD :	Distonía; Encefalopatía; Sistema nervioso patología; Biotina; Núcleo basal; Necrosis; Vitamina B
LO :	INIST-20953.354000502011860180
ID :	12-0369641

Links to Exploration step

Pascal:12-0369641

Le document en format XML

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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>
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<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><inist:fA14 i1="01"><s1>Child Neurology and Radiology Departments, Hospital Sant Joan de Déu</s1>
<s2>Barcelona</s2>
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<affiliation><inist:fA14 i1="02"><s1>Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III</s1>
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<author><name sortKey="Rebollo, Monica" sort="Rebollo, Monica" uniqKey="Rebollo M" first="Monica" last="Rebollo">Monica Rebollo</name>
<affiliation><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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<author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name>
<affiliation><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>
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</affiliation>
<affiliation><inist:fA14 i1="04"><s1>Inserm UMRS_975 (CRICM), Hôpital de la Pitié-Salpêtrière</s1>
<s2>Paris</s2>
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</author>
<author><name sortKey="Rastetter, Agnes" sort="Rastetter, Agnes" uniqKey="Rastetter A" first="Agnes" last="Rastetter">Agnes Rastetter</name>
<affiliation><inist:fA14 i1="04"><s1>Inserm UMRS_975 (CRICM), Hôpital de la Pitié-Salpêtrière</s1>
<s2>Paris</s2>
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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><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>
<affiliation><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>
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<author><name sortKey="Martorell, Loreto" sort="Martorell, Loreto" uniqKey="Martorell L" first="Loreto" last="Martorell">Loreto Martorell</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Artuch, Rafael" sort="Artuch, Rafael" uniqKey="Artuch R" first="Rafael" last="Artuch">Rafael Artuch</name>
<affiliation><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>
</affiliation>
<affiliation><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>
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</author>
<author><name sortKey="Obeso, Jose A" sort="Obeso, Jose A" uniqKey="Obeso J" first="José A." last="Obeso">José A. Obeso</name>
<affiliation><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>
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</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><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>
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</affiliation>
<affiliation><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>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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</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>
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<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>
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<fA14 i1="02"><s1>Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III</s1>
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<sZ>1 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
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<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>
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<fA14 i1="04"><s1>Inserm UMRS_975 (CRICM), Hôpital de la Pitié-Salpêtrière</s1>
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<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
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<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>
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<s3>ESP</s3>
<sZ>9 aut.</sZ>
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<server><NO>PASCAL 12-0369641 INIST</NO>
<ET>Reversible Generalized Dystonia and Encephalopathy from Thiamine Transporter 2 Deficiency</ET>
<AU>SERRANO (Mercedes); REBOLLO (Monica); DEPIENNE (Christel); RASTETTER (Agnes); FERNANDEZ-ALVAREZ (Emilio); MUCHART (Jordi); MARTORELL (Loreto); ARTUCH (Rafael); OBESO (José A.); PEREZ-DUENAS (Belén)</AU>
<AF>Child Neurology and Radiology Departments, Hospital Sant Joan de Déu/Barcelona/Espagne (1 aut., 2 aut., 5 aut., 6 aut., 10 aut.); Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III/Barcelona/Espagne (1 aut., 8 aut., 10 aut.); 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/Paris/France (3 aut.); Inserm UMRS_975 (CRICM), Hôpital de la Pitié-Salpêtrière/Paris/France (3 aut., 4 aut.); Clinical Biochemistry and Molecular Genetics Departments, Hospital Sant Joan de Déu/Barcelona/Espagne (7 aut., 8 aut.); Department of Neurology, Clinica Universitaria and Medical School, CIMA-Neuroscience and CIBERNED, University of Navarra/Pamplona/Espagne (9 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2012; Vol. 27; No. 10; Pp. 1295-1299; Bibl. 7 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17H</CC>
<FD>Dystonie; Encéphalopathie; Pathologie du   système nerveux; Biotine; Noyau gris central; Nécrose; Vitamine B; Carence vitaminique thiamine; Transporteur thiamine THTR-2</FD>
<FG>Syndrome extrapyramidal; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique; Pathologie de l'encéphale; Pathologie du   système nerveux central; Trouble de la nutrition; Encéphale; Système nerveux central</FG>
<ED>Dystonia; Encephalopathy; Nervous system diseases; Biotin; Basal ganglion; Necrosis; B-Vitamins; THTR-2 thiamine transporter</ED>
<EG>Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease; Nutrition disorder; Encephalon; Central nervous system</EG>
<SD>Distonía; Encefalopatía; Sistema nervioso patología; Biotina; Núcleo basal; Necrosis; Vitamina B</SD>
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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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