The spectrum of movement disorders in Glut‐1 deficiency
Identifieur interne : 001059 ( Istex/Corpus ); précédent : 001058; suivant : 001060The spectrum of movement disorders in Glut‐1 deficiency
Auteurs : Roser Pons ; Abbie Collins ; Michael Rotstein ; Kristin Engelstad ; Darryl C. De VivoSource :
- Movement Disorders [ 0885-3185 ] ; 2010-02-15.
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Abstract
To assess the spectrum of movement disorders, we reviewed video recordings and charts of 57 patients with Glut‐1 deficiency. Eighty‐nine percent of patients with Glut‐1 deficiency syndrome had a disturbance of gait. The most frequent gait abnormalities were ataxic‐spastic and ataxic. Action limb dystonia was observed in 86% of cases and mild chorea in 75%. Cerebellar action tremor was seen in 70% of patients, myoclonus in 16%, and dyspraxia in 21%. Nonepileptic paroxysmal events occurred in 28% of patients, and included episodes of ataxia, weakness, Parkinsonism and nonkinesogenic dyskinesias. The 40 patients (70%) who were on the ketogenic diet had less severe gait disturbances but more dystonia, chorea, tremor, myoclonus, dyspraxia, and paroxysmal events compared with the 17 patients on a conventional diet. Poor dietary compliance and low ketonuria appear to trigger the paroxysmal events in some patients. Gait disturbances and movement disorders are frequent in patients with Glut‐1 deficiency and are signs of chronic and intermittent pyramidal, cerebellar and extrapyramidal circuit dysfunction. These clinical symptoms reflect chronic nutrient deficiency during brain development and may be mitigated by chronic ketosis. © 2009 Movement Disorder Society
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DOI: 10.1002/mds.22808
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Eighty‐nine percent of patients with Glut‐1 deficiency syndrome had a disturbance of gait. The most frequent gait abnormalities were ataxic‐spastic and ataxic. Action limb dystonia was observed in 86% of cases and mild chorea in 75%. Cerebellar action tremor was seen in 70% of patients, myoclonus in 16%, and dyspraxia in 21%. Nonepileptic paroxysmal events occurred in 28% of patients, and included episodes of ataxia, weakness, Parkinsonism and nonkinesogenic dyskinesias. The 40 patients (70%) who were on the ketogenic diet had less severe gait disturbances but more dystonia, chorea, tremor, myoclonus, dyspraxia, and paroxysmal events compared with the 17 patients on a conventional diet. Poor dietary compliance and low ketonuria appear to trigger the paroxysmal events in some patients. Gait disturbances and movement disorders are frequent in patients with Glut‐1 deficiency and are signs of chronic and intermittent pyramidal, cerebellar and extrapyramidal circuit dysfunction. These clinical symptoms reflect chronic nutrient deficiency during brain development and may be mitigated by chronic ketosis. © 2009 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Roser Pons</name><affiliations><json:string>Agia Sofia Hospital, First Department of Pediatrics, University of Athens, Athens, Greece</json:string></affiliations></json:item><json:item><name>Abbie Collins</name><affiliations><json:string>Department of Pediatrics, Section of Child Neurology, University of Colorado, Denver, Colorado</json:string></affiliations></json:item><json:item><name>Michael Rotstein</name><affiliations><json:string>Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, New York</json:string></affiliations></json:item><json:item><name>Kristin Engelstad</name><affiliations><json:string>Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, New York</json:string></affiliations></json:item><json:item><name>Darryl C De Vivo</name><affiliations><json:string>Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, New York</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>glucose</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>dystonia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>ataxia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>spasticity</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>paroxysms</value></json:item></subject><language><json:string>eng</json:string></language><abstract>To assess the spectrum of movement disorders, we reviewed video recordings and charts of 57 patients with Glut‐1 deficiency. 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These clinical symptoms reflect chronic nutrient deficiency during brain development and may be mitigated by chronic ketosis. © 2009 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>glucose</term></item><item><term>dystonia</term></item><item><term>ataxia</term></item><item><term>spasticity</term></item><item><term>paroxysms</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2009-02-09">Received</change><change when="2009-08-20">Registration</change><change when="2010-02-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/CCE9A78FC2A5BF9A8DEAEBFA89D6019DA9D44DB7/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. 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Eighty‐nine percent of patients with Glut‐1 deficiency syndrome had a disturbance of gait. The most frequent gait abnormalities were ataxic‐spastic and ataxic. Action limb dystonia was observed in 86% of cases and mild chorea in 75%. Cerebellar action tremor was seen in 70% of patients, myoclonus in 16%, and dyspraxia in 21%. Nonepileptic paroxysmal events occurred in 28% of patients, and included episodes of ataxia, weakness, Parkinsonism and nonkinesogenic dyskinesias. The 40 patients (70%) who were on the ketogenic diet had less severe gait disturbances but more dystonia, chorea, tremor, myoclonus, dyspraxia, and paroxysmal events compared with the 17 patients on a conventional diet. Poor dietary compliance and low ketonuria appear to trigger the paroxysmal events in some patients. Gait disturbances and movement disorders are frequent in patients with Glut‐1 deficiency and are signs of chronic and intermittent pyramidal, cerebellar and extrapyramidal circuit dysfunction. These clinical symptoms reflect chronic nutrient deficiency during brain development and may be mitigated by chronic ketosis. © 2009 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn6"><p>Potential conflict of interest: The authors report no conflicts of interest.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>The spectrum of movement disorders in Glut‐1 deficiency</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Movement Disorders in Glut1 Deficiency</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>The spectrum of movement disorders in Glut‐1 deficiency</title></titleInfo><name type="personal"><namePart type="given">Roser</namePart><namePart type="family">Pons</namePart><affiliation>Agia Sofia Hospital, First Department of Pediatrics, University of Athens, Athens, Greece</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Abbie</namePart><namePart type="family">Collins</namePart><affiliation>Department of Pediatrics, Section of Child Neurology, University of Colorado, Denver, Colorado</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michael</namePart><namePart type="family">Rotstein</namePart><affiliation>Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, New York</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kristin</namePart><namePart type="family">Engelstad</namePart><affiliation>Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, New York</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Darryl C</namePart><namePart type="family">De Vivo</namePart><affiliation>Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, New York</affiliation><description>Correspondence: Columbia University, Neurological Institute, 710 West 168th Street, New York, NY 10032===</description><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">2010-02-15</dateIssued><dateCaptured encoding="w3cdtf">2009-02-09</dateCaptured><dateValid encoding="w3cdtf">2009-08-20</dateValid><copyrightDate encoding="w3cdtf">2010</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="tables">3</extent><extent unit="references">20</extent><extent unit="words">5865</extent></physicalDescription><abstract lang="en">To assess the spectrum of movement disorders, we reviewed video recordings and charts of 57 patients with Glut‐1 deficiency. Eighty‐nine percent of patients with Glut‐1 deficiency syndrome had a disturbance of gait. The most frequent gait abnormalities were ataxic‐spastic and ataxic. Action limb dystonia was observed in 86% of cases and mild chorea in 75%. Cerebellar action tremor was seen in 70% of patients, myoclonus in 16%, and dyspraxia in 21%. Nonepileptic paroxysmal events occurred in 28% of patients, and included episodes of ataxia, weakness, Parkinsonism and nonkinesogenic dyskinesias. The 40 patients (70%) who were on the ketogenic diet had less severe gait disturbances but more dystonia, chorea, tremor, myoclonus, dyspraxia, and paroxysmal events compared with the 17 patients on a conventional diet. Poor dietary compliance and low ketonuria appear to trigger the paroxysmal events in some patients. Gait disturbances and movement disorders are frequent in patients with Glut‐1 deficiency and are signs of chronic and intermittent pyramidal, cerebellar and extrapyramidal circuit dysfunction. These clinical symptoms reflect chronic nutrient deficiency during brain development and may be mitigated by chronic ketosis. © 2009 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: The authors report no conflicts of interest.</note><note type="funding">USPHS - No. NS37949; No. 1 UL1 RR024156‐01; </note><note type="funding">Will and Colleen Giblin Foundations</note><note type="funding">Pediatric Neurotransmitter Disease Association</note><subject lang="en"><genre>Keywords</genre><topic>glucose</topic><topic>dystonia</topic><topic>ataxia</topic><topic>spasticity</topic><topic>paroxysms</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><note type="content"> Additional Supporting Information may be found in the online version of this article.</note><subject><genre>article category</genre><topic>Research Article</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>2010</date><detail type="volume"><caption>vol.</caption><number>25</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>275</start><end>281</end><total>7</total></extent></part></relatedItem><identifier type="istex">CCE9A78FC2A5BF9A8DEAEBFA89D6019DA9D44DB7</identifier><identifier type="DOI">10.1002/mds.22808</identifier><identifier type="ArticleID">MDS22808</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2009 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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