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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- KwdEn :
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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<titleGroup><title type="main" xml:lang="en">Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet</title>
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<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>
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<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>
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<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>
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<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>
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<topic>ketogenic diet</topic>
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<topic>dystonia</topic>
<topic>choreoathetosis</topic>
<topic>ataxia</topic>
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<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>
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