Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet
Identifieur interne : 004D19 ( Main/Merge ); précédent : 004D18; suivant : 004D20Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet
Auteurs : Jennifer R. L. Friedman [États-Unis] ; Elizabeth A. Thiele [États-Unis] ; DONG WANG [États-Unis] ; Kara B. Levine [États-Unis] ; Erin K. Cloherty [États-Unis] ; Heidi H. Pfeifer [États-Unis] ; Darryl C. De Vivo [États-Unis] ; Anthony Carruthers [États-Unis] ; Marvin R. Natowicz [États-Unis]Source :
- Movement disorders [ 0885-3185 ] ; 2006.
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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.
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L." last="Friedman">Jennifer R. L. Friedman</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Massachusetts General Hospital</s1><s2>Boston, Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Thiele, Elizabeth A" sort="Thiele, Elizabeth A" uniqKey="Thiele E" first="Elizabeth A." last="Thiele">Elizabeth A. 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Levine</name><affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Department of Biochemistry and Molecular Pharmacology, University of Massachusetts</s1><s2>Worcester, Massachusetts</s2><s3>USA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Massachusetts</region><settlement type="city">Amherst (Massachusetts)</settlement></placeName><orgName type="university">Université du Massachusetts</orgName></affiliation></author><author><name sortKey="Cloherty, Erin K" sort="Cloherty, Erin K" uniqKey="Cloherty E" first="Erin K." last="Cloherty">Erin K. Cloherty</name><affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Department of Biochemistry and Molecular Pharmacology, University of Massachusetts</s1><s2>Worcester, Massachusetts</s2><s3>USA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Massachusetts</region><settlement type="city">Amherst (Massachusetts)</settlement></placeName><orgName type="university">Université du Massachusetts</orgName></affiliation></author><author><name sortKey="Pfeifer, Heidi H" sort="Pfeifer, Heidi H" uniqKey="Pfeifer H" first="Heidi H." last="Pfeifer">Heidi H. Pfeifer</name><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Departments of Neurology and Pediatrics, Pediatric Epilepsy Program, Massachusetts General Hospital</s1><s2>Boston, Massachusetts</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="De Vivo, Darryl C" sort="De Vivo, Darryl C" uniqKey="De Vivo D" first="Darryl C." last="De Vivo">Darryl C. De Vivo</name><affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University</s1><s2>New York, New York</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region><settlement type="city">New York</settlement></placeName><orgName type="university">Université Columbia</orgName></affiliation></author><author><name sortKey="Carruthers, Anthony" sort="Carruthers, Anthony" uniqKey="Carruthers A" first="Anthony" last="Carruthers">Anthony Carruthers</name><affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Department of Biochemistry and Molecular Pharmacology, University of Massachusetts</s1><s2>Worcester, Massachusetts</s2><s3>USA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Massachusetts</region><settlement type="city">Amherst (Massachusetts)</settlement></placeName><orgName type="university">Université du Massachusetts</orgName></affiliation></author><author><name sortKey="Natowicz, Marvin R" sort="Natowicz, Marvin R" uniqKey="Natowicz M" first="Marvin R." last="Natowicz">Marvin R. Natowicz</name><affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Departments of Neurology, Pathology and Pediatrics, Cleveland Clinic Foundation</s1><s2>Cleveland, Ohio</s2><s3>USA</s3><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Ohio</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006">2006</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia</term><term>Biological transport</term><term>Choreoathetosis</term><term>Deficiency</term><term>Dystonia</term><term>GLUT-1 glucose transporter</term><term>Glucose</term><term>Nervous system diseases</term><term>Protein</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Déficit</term><term>Dystonie</term><term>Choréoathétose</term><term>Ataxie</term><term>Glucose</term><term>Transport biologique</term><term>Protéine</term><term>Transporteur glucose GLUT-1</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Déficit</term><term>Glucose</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml: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.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Massachusetts</li><li>Ohio</li><li>État de New York</li></region><settlement><li>Amherst (Massachusetts)</li><li>New York</li></settlement><orgName><li>Université Columbia</li><li>Université du Massachusetts</li></orgName></list><tree><country name="États-Unis"><region name="Massachusetts"><name sortKey="Friedman, Jennifer R L" sort="Friedman, Jennifer R L" uniqKey="Friedman J" first="Jennifer R. L." last="Friedman">Jennifer R. L. Friedman</name></region><name sortKey="Carruthers, Anthony" sort="Carruthers, Anthony" uniqKey="Carruthers A" first="Anthony" last="Carruthers">Anthony Carruthers</name><name sortKey="Cloherty, Erin K" sort="Cloherty, Erin K" uniqKey="Cloherty E" first="Erin K." last="Cloherty">Erin K. Cloherty</name><name sortKey="De Vivo, Darryl C" sort="De Vivo, Darryl C" uniqKey="De Vivo D" first="Darryl C." last="De Vivo">Darryl C. De Vivo</name><name sortKey="Dong Wang" sort="Dong Wang" uniqKey="Dong Wang" last="Dong Wang">DONG WANG</name><name sortKey="Levine, Kara B" sort="Levine, Kara B" uniqKey="Levine K" first="Kara B." last="Levine">Kara B. Levine</name><name sortKey="Natowicz, Marvin R" sort="Natowicz, Marvin R" uniqKey="Natowicz M" first="Marvin R." last="Natowicz">Marvin R. Natowicz</name><name sortKey="Pfeifer, Heidi H" sort="Pfeifer, Heidi H" uniqKey="Pfeifer H" first="Heidi H." last="Pfeifer">Heidi H. Pfeifer</name><name sortKey="Thiele, Elizabeth A" sort="Thiele, Elizabeth A" uniqKey="Thiele E" first="Elizabeth A." last="Thiele">Elizabeth A. Thiele</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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