Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.
Identifieur interne : 000C50 ( PubMed/Checkpoint ); précédent : 000C49; suivant : 000C51Reversible 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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pubmed:22777947Le 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></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.25008</idno><idno type="RBID">pubmed:22777947</idno><idno type="pmid">22777947</idno><idno type="wicri:Area/PubMed/Corpus">000D12</idno><idno type="wicri:Area/PubMed/Curation">000D12</idno><idno type="wicri:Area/PubMed/Checkpoint">000C50</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">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"><nlm:affiliation>Child Neurology and Radiology Departments, Hospital Sant Joan de Déu, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Child Neurology and Radiology Departments, Hospital Sant Joan de Déu, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Rebollo, M Nica" sort="Rebollo, M Nica" uniqKey="Rebollo M" first="M Nica" last="Rebollo">M Nica Rebollo</name></author><author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name></author><author><name sortKey="Rastetter, Agnes" sort="Rastetter, Agnes" uniqKey="Rastetter A" first="Agnès" last="Rastetter">Agnès Rastetter</name></author><author><name sortKey="Fernandez Lvarez, Emilio" sort="Fernandez Lvarez, Emilio" uniqKey="Fernandez Lvarez E" first="Emilio" last="Fernández-Álvarez">Emilio Fernández-Álvarez</name></author><author><name sortKey="Muchart, Jordi" sort="Muchart, Jordi" uniqKey="Muchart J" first="Jordi" last="Muchart">Jordi Muchart</name></author><author><name sortKey="Martorell, Loreto" sort="Martorell, Loreto" uniqKey="Martorell L" first="Loreto" last="Martorell">Loreto Martorell</name></author><author><name sortKey="Artuch, Rafael" sort="Artuch, Rafael" uniqKey="Artuch R" first="Rafael" last="Artuch">Rafael Artuch</name></author><author><name sortKey="Obeso, Jose A" sort="Obeso, Jose A" uniqKey="Obeso J" first="José A" last="Obeso">José A. 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><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">22777947</PMID><DateCreated><Year>2012</Year><Month>09</Month><Day>14</Day></DateCreated><DateCompleted><Year>2013</Year><Month>02</Month><Day>14</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>27</Volume><Issue>10</Issue><PubDate><Year>2012</Year><Month>Sep</Month><Day>1</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.</ArticleTitle><Pagination><MedlinePgn>1295-8</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25008</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="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.</AbstractText><AbstractText Label="METHODS" NlmCategory="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.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">The clinical features resolved rapidly after thiamine administration.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="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. © 2012 Movement Disorder Society.</AbstractText><CopyrightInformation>Copyright © 2012 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Serrano</LastName><ForeName>Mercedes</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Child Neurology and Radiology Departments, Hospital Sant Joan de Déu, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rebollo</LastName><ForeName>Mónica</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Depienne</LastName><ForeName>Christel</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Rastetter</LastName><ForeName>Agnès</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Fernández-Álvarez</LastName><ForeName>Emilio</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Muchart</LastName><ForeName>Jordi</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Martorell</LastName><ForeName>Loreto</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Artuch</LastName><ForeName>Rafael</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Obeso</LastName><ForeName>José A</ForeName><Initials>JA</Initials></Author><Author ValidYN="Y"><LastName>Pérez-Dueñas</LastName><ForeName>Belén</ForeName><Initials>B</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2012</Year><Month>07</Month><Day>06</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D026901">Membrane Transport Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C492291">SLC19A3 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>97-69-8</RegistryNumber><NameOfSubstance UI="C010530">N-acetylalanine</NameOfSubstance></Chemical><Chemical><RegistryNumber>N91BDP6H0X</RegistryNumber><NameOfSubstance UI="D002794">Choline</NameOfSubstance></Chemical><Chemical><RegistryNumber>OF5P57N2ZX</RegistryNumber><NameOfSubstance UI="D000409">Alanine</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C537658">Basal ganglia disease, biotin-responsive</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000409">Alanine</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000031">analogs & derivatives</QualifierName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001479">Basal Ganglia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001480">Basal Ganglia Diseases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002675">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002794">Choline</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020821">Dystonic Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000209">etiology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009682">Magnetic Resonance Spectroscopy</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D026901">Membrane Transport Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000172">deficiency</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D035781">Siblings</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2011</Year><Month>2</Month><Day>6</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2012</Year><Month>3</Month><Day>4</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2012</Year><Month>7</Month><Day>6</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2012</Year><Month>7</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2012</Year><Month>7</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2013</Year><Month>2</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.25008</ArticleId><ArticleId IdType="pubmed">22777947</ArticleId></ArticleIdList></PubmedData></pubmed><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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