Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet
Identifieur interne : 002D05 ( Istex/Corpus ); précédent : 002D04; suivant : 002D06Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet
Auteurs : Jennifer R. L. Friedman ; Elizabeth A. Thiele ; Dong Wang ; Kara B. Levine ; Erin K. Cloherty ; Heidi H. Pfeifer ; Darryl C. De Vivo ; Anthony Carruthers ; Marvin R. NatowiczSource :
- Movement Disorders [ 0885-3185 ] ; 2006-02.
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Abstract
Glucose transport protein deficiency due to mutation in the GLUT1 gene is characterized by infantile onset and chronic seizure disorder, microcephaly, global developmental delays, and hypoglycorrhachia. We describe a 10‐year‐old normocephalic male with prominent ataxia, dystonia, choreoathetosis, and GLUT1 deficiency whose motor abnormalities improved with a ketogenic diet. We illustrate the motor abnormalities, at baseline and after ketogenic diet, that characterize this unusual case. This case broadens the phenotype of GLUT1 deficiency and illustrates the importance of cerebrospinal fluid (CSF) evaluation in detecting potentially treatable conditions in children with undiagnosed movement disorders. © 2005 Movement Disorder Society
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DOI: 10.1002/mds.20660
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ISTEX:8F619F98E89D4C765D247BD720C7A3358A7597A3Le document en format XML
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We describe a 10‐year‐old normocephalic male with prominent ataxia, dystonia, choreoathetosis, and GLUT1 deficiency whose motor abnormalities improved with a ketogenic diet. We illustrate the motor abnormalities, at baseline and after ketogenic diet, that characterize this unusual case. This case broadens the phenotype of GLUT1 deficiency and illustrates the importance of cerebrospinal fluid (CSF) evaluation in detecting potentially treatable conditions in children with undiagnosed movement disorders. © 2005 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Jennifer R.L. Friedman MD</name><affiliations><json:string>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</json:string><json:string>Current Address: San Diego Children's Hospital, San Diego, CA</json:string></affiliations></json:item><json:item><name>Elizabeth A. Thiele MD, PhD</name><affiliations><json:string>Departments of Neurology and Pediatrics, Pediatric Epilepsy Program, Massachusetts General Hospital, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Dong Wang MD</name><affiliations><json:string>Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Kara B. Levine PhD</name><affiliations><json:string>Department of Biochemistry and Molecular Pharmacology, University of Massachusetts, Worcester, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Erin K. Cloherty</name><affiliations><json:string>Department of Biochemistry and Molecular Pharmacology, University of Massachusetts, Worcester, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Heidi H. Pfeifer RD, LDN</name><affiliations><json:string>Departments of Neurology and Pediatrics, Pediatric Epilepsy Program, Massachusetts General Hospital, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Darryl C. De Vivo MD</name><affiliations><json:string>Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Anthony Carruthers PhD</name><affiliations><json:string>Department of Biochemistry and Molecular Pharmacology, University of Massachusetts, Worcester, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Marvin R. 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We describe a 10‐year‐old normocephalic male with prominent ataxia, dystonia, choreoathetosis, and GLUT1 deficiency whose motor abnormalities improved with a ketogenic diet. We illustrate the motor abnormalities, at baseline and after ketogenic diet, that characterize this unusual case. 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affiliationRef="#af4"><personName><givenNames>Anthony</givenNames><familyName>Carruthers</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Marvin R.</givenNames><familyName>Natowicz</familyName><degrees>MD, PhD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Departments of Neurology and Pediatrics, Pediatric Epilepsy Program, Massachusetts General Hospital, Boston, Massachusetts, USA</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Department of Biochemistry and Molecular Pharmacology, University of Massachusetts, Worcester, Massachusetts, USA</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Departments of Neurology, Pathology and Pediatrics, Cleveland Clinic Foundation, Cleveland, Ohio, USA</unparsedAffiliation></affiliation><affiliation xml:id="curr1"><unparsedAffiliation>San Diego Children's Hospital, San Diego, CA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">glucose transport protein</keyword><keyword xml:id="kwd2">glut1</keyword><keyword xml:id="kwd3">ketogenic diet</keyword><keyword xml:id="kwd4">hypoglycorrhacia</keyword><keyword xml:id="kwd5">movement disorder</keyword><keyword xml:id="kwd6">dystonia</keyword><keyword xml:id="kwd7">choreoathetosis</keyword><keyword xml:id="kwd8">ataxia</keyword></keywordGroup><fundingInfo><fundingAgency>National Institutes of Health</fundingAgency><fundingNumber>DK 44888</fundingNumber></fundingInfo><supportingInformation><p> This article includes Supplementary Video, available online at <url href="http://www.interscience.wiley.com/jpages/0885-3185/suppmat"> http://www.interscience.wiley.com/jpages/0885‐3185/suppmat </url> . </p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds20660:jws-mds"></mediaResource><caption> Split‐screen comparison of motor function on and off Ketogenic Diet: 1. reduced facial dystonia on diet 2. improved pencil grip on diet 3. improved gait on diet This video presentation has been abbreviated. The full version will appear on theMovementDisorders DVD Supplement, which is issued bi‐annually. </caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Glucose transport protein deficiency due to mutation in the <i>GLUT1</i> gene is characterized by infantile onset and chronic seizure disorder, microcephaly, global developmental delays, and hypoglycorrhachia. We describe a 10‐year‐old normocephalic male with prominent ataxia, dystonia, choreoathetosis, and GLUT1 deficiency whose motor abnormalities improved with a ketogenic diet. We illustrate the motor abnormalities, at baseline and after ketogenic diet, that characterize this unusual case. This case broadens the phenotype of GLUT1 deficiency and illustrates the importance of cerebrospinal fluid (CSF) evaluation in detecting potentially treatable conditions in children with undiagnosed movement disorders. © 2005 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Atypical GLUT1 Deficiency</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet</title></titleInfo><name type="personal"><namePart type="given">Jennifer R.L.</namePart><namePart type="family">Friedman</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><affiliation>Current Address: San Diego Children's Hospital, San Diego, CA</affiliation><description>Correspondence: San Diego Children's Hospital, 8010 Frost Street, San Diego, CA 92123</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Elizabeth A.</namePart><namePart type="family">Thiele</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Departments of Neurology and Pediatrics, Pediatric Epilepsy Program, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Dong</namePart><namePart type="family">Wang</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kara B.</namePart><namePart type="family">Levine</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Biochemistry and Molecular Pharmacology, University of Massachusetts, Worcester, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Erin K.</namePart><namePart type="family">Cloherty</namePart><affiliation>Department of Biochemistry and Molecular Pharmacology, University of Massachusetts, Worcester, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Heidi H.</namePart><namePart type="family">Pfeifer</namePart><namePart type="termsOfAddress">RD, LDN</namePart><affiliation>Departments of Neurology and Pediatrics, Pediatric Epilepsy Program, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Darryl C.</namePart><namePart type="family">De Vivo</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anthony</namePart><namePart type="family">Carruthers</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Biochemistry and Molecular Pharmacology, University of Massachusetts, Worcester, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marvin R.</namePart><namePart type="family">Natowicz</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Departments of Neurology, Pathology and Pediatrics, Cleveland Clinic Foundation, Cleveland, Ohio, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2006-02</dateIssued><dateCaptured encoding="w3cdtf">2005-01-18</dateCaptured><dateValid encoding="w3cdtf">2005-04-21</dateValid><copyrightDate encoding="w3cdtf">2006</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">3</extent><extent unit="references">14</extent><extent unit="words">2403</extent></physicalDescription><abstract lang="en">Glucose transport protein deficiency due to mutation in the GLUT1 gene is characterized by infantile onset and chronic seizure disorder, microcephaly, global developmental delays, and hypoglycorrhachia. We describe a 10‐year‐old normocephalic male with prominent ataxia, dystonia, choreoathetosis, and GLUT1 deficiency whose motor abnormalities improved with a ketogenic diet. We illustrate the motor abnormalities, at baseline and after ketogenic diet, that characterize this unusual case. This case broadens the phenotype of GLUT1 deficiency and illustrates the importance of cerebrospinal fluid (CSF) evaluation in detecting potentially treatable conditions in children with undiagnosed movement disorders. © 2005 Movement Disorder Society</abstract><note type="funding">National Institutes of Health - No. DK 44888; </note><subject lang="en"><genre>Keywords</genre><topic>glucose transport protein</topic><topic>glut1</topic><topic>ketogenic diet</topic><topic>hypoglycorrhacia</topic><topic>movement disorder</topic><topic>dystonia</topic><topic>choreoathetosis</topic><topic>ataxia</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><note type="content"> This article includes Supplementary Video, available online at http://www.interscience.wiley.com/jpages/0885‐3185/suppmat .Supporting Info Item: Split‐screen comparison of motor function on and off Ketogenic Diet: 1. reduced facial dystonia on diet 2. improved pencil grip on diet 3. improved gait on diet This video presentation has been abbreviated. The full version will appear on theMovementDisorders DVD Supplement, which is issued bi‐annually. - </note><subject><genre>article category</genre><topic>Brief Report</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2006</date><detail type="volume"><caption>vol.</caption><number>21</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>241</start><end>244</end><total>4</total></extent></part></relatedItem><identifier type="istex">8F619F98E89D4C765D247BD720C7A3358A7597A3</identifier><identifier type="DOI">10.1002/mds.20660</identifier><identifier type="ArticleID">MDS20660</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2005 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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