Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.
Identifieur interne : 000C34 ( Main/Curation ); 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
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pubmed:22777947Le document en format XML
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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="Agnès" last="Rastetter">Agnès Rastetter</name>
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<author><name sortKey="Fernandez Lvarez, Emilio" sort="Fernandez Lvarez, Emilio" uniqKey="Fernandez Lvarez E" first="Emilio" last="Fernández-Álvarez">Emilio Fernández-Álvarez</name>
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<term>Basal Ganglia Diseases (complications)</term>
<term>Basal Ganglia Diseases (genetics)</term>
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<term>Magnetic Resonance Imaging</term>
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<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>
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