Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.
Identifieur interne : 000C34 ( Main/Exploration ); précédent : 000C33; suivant : 000C35Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.
Auteurs : Mercedes Serrano [Espagne] ; M Nica Rebollo ; Christel Depienne ; Agnès Rastetter ; Emilio Fernández-Álvarez ; Jordi Muchart ; Loreto Martorell ; Rafael Artuch ; José A. Obeso ; Belén Pérez-Due AsSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Adolescent, Alanine (analogs & derivatives), Alanine (metabolism), Basal Ganglia (metabolism), Basal Ganglia (pathology), Basal Ganglia Diseases (complications), Basal Ganglia Diseases (genetics), Child, Preschool, Choline (metabolism), Dystonic Disorders (etiology), Dystonic Disorders (genetics), Female, Humans, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Male, Membrane Transport Proteins (deficiency), Membrane Transport Proteins (genetics), Siblings.
- MESH :
- chemical , analogs & derivatives : Alanine.
- chemical , deficiency : Membrane Transport Proteins.
- chemical , genetics : Membrane Transport Proteins.
- chemical , metabolism : Alanine, Choline.
- complications : Basal Ganglia Diseases.
- etiology : Dystonic Disorders.
- genetics : Basal Ganglia Diseases, Dystonic Disorders.
- metabolism : Basal Ganglia.
- pathology : Basal Ganglia.
- Adolescent, Child, Preschool, Female, Humans, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Male, Siblings.
Abstract
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.
DOI: 10.1002/mds.25008
PubMed: 22777947
Affiliations:
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Le document en format XML
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Obeso</name></author><author><name sortKey="Perez Due As, Belen" sort="Perez Due As, Belen" uniqKey="Perez Due As B" first="Belén" last="Pérez-Due As">Belén Pérez-Due As</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>Adolescent</term><term>Alanine (analogs & derivatives)</term><term>Alanine (metabolism)</term><term>Basal Ganglia (metabolism)</term><term>Basal Ganglia (pathology)</term><term>Basal Ganglia Diseases (complications)</term><term>Basal Ganglia Diseases (genetics)</term><term>Child, Preschool</term><term>Choline (metabolism)</term><term>Dystonic Disorders (etiology)</term><term>Dystonic Disorders (genetics)</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Magnetic Resonance Spectroscopy</term><term>Male</term><term>Membrane Transport Proteins (deficiency)</term><term>Membrane Transport Proteins (genetics)</term><term>Siblings</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analogs & derivatives" xml:lang="en"><term>Alanine</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Membrane Transport Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Transport Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Alanine</term><term>Choline</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Basal Ganglia Diseases</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Basal Ganglia Diseases</term><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Basal Ganglia</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Basal Ganglia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child, Preschool</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Magnetic Resonance Spectroscopy</term><term>Male</term><term>Siblings</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>Espagne</li></country><region><li>Catalogne</li></region><settlement><li>Barcelone</li></settlement></list><tree><noCountry><name sortKey="Artuch, Rafael" sort="Artuch, Rafael" uniqKey="Artuch R" first="Rafael" last="Artuch">Rafael Artuch</name><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><name sortKey="Fernandez Lvarez, Emilio" sort="Fernandez Lvarez, Emilio" uniqKey="Fernandez Lvarez E" first="Emilio" last="Fernández-Álvarez">Emilio Fernández-Álvarez</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 Due As, Belen" sort="Perez Due As, Belen" uniqKey="Perez Due As B" first="Belén" last="Pérez-Due As">Belén Pérez-Due As</name><name sortKey="Rastetter, Agnes" sort="Rastetter, Agnes" uniqKey="Rastetter A" first="Agnès" last="Rastetter">Agnès Rastetter</name><name sortKey="Rebollo, M Nica" sort="Rebollo, M Nica" uniqKey="Rebollo M" first="M Nica" last="Rebollo">M Nica Rebollo</name></noCountry><country name="Espagne"><region name="Catalogne"><name sortKey="Serrano, Mercedes" sort="Serrano, Mercedes" uniqKey="Serrano M" first="Mercedes" last="Serrano">Mercedes Serrano</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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