MovDisordV3, PascalFrancis, Corpus, bibRecord, 000C33

The Spectrum of Movement Disorders in Glut-1 Deficiency

Identifieur interne : 000C33 ( PascalFrancis/Corpus ); précédent : 000C32; suivant : 000C34

The Spectrum of Movement Disorders in Glut-1 Deficiency

Auteurs : Roser Pons ; Abbie Collins ; Michael Rotstein ; Kristin Engelstad ; Darryl C. De Vivo

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:10-0161569

Descripteurs français

Pascal (Inist)
- Déficit, Dystonie, Ataxie, Hypertonie spastique, Pathologie du système nerveux, Glucose.

English descriptors

KwdEn :
- Ataxia, Deficiency, Dystonia, Glucose, Nervous system diseases, Spasticity.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0885-3185`
A03		`1`		`@0 Mov. disord.`
A05				`@2 25`
A06				`@2 3`
A08	`01`	`1`	`ENG`	`@1 The Spectrum of Movement Disorders in Glut-1 Deficiency`
A11	`01`	`1`		`@1 PONS (Roser)`
A11	`02`	`1`		`@1 COLLINS (Abbie)`
A11	`03`	`1`		`@1 ROTSTEIN (Michael)`
A11	`04`	`1`		`@1 ENGELSTAD (Kristin)`
A11	`05`	`1`		`@1 DE VIVO (Darryl C.)`
A14	`01`			`@1 Agia Sofia Hospital, First Department of Pediatrics, University of Athens @2 Athens @3 GRC @Z 1 aut.`
A14	`02`			`@1 Department of Pediatrics, Section of Child Neurology, University of Colorado @2 Denver, Colorado @3 USA @Z 2 aut.`
A14	`03`			`@1 Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University @2 New York, New York @3 USA @Z 3 aut. @Z 4 aut. @Z 5 aut.`
A20				`@1 275-281`
A21				`@1 2010`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000181820230040`
A44				`@0 0000 @1 © 2010 INIST-CNRS. All rights reserved.`
A45				`@0 20 ref.`
A47	`01`	`1`		`@0 10-0161569`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17H`
C03	`01`	`X`	`FRE`	`@0 Déficit @5 01`
C03	`01`	`X`	`ENG`	`@0 Deficiency @5 01`
C03	`01`	`X`	`SPA`	`@0 Déficiencia @5 01`
C03	`02`	`X`	`FRE`	`@0 Dystonie @5 02`
C03	`02`	`X`	`ENG`	`@0 Dystonia @5 02`
C03	`02`	`X`	`SPA`	`@0 Distonía @5 02`
C03	`03`	`X`	`FRE`	`@0 Ataxie @5 03`
C03	`03`	`X`	`ENG`	`@0 Ataxia @5 03`
C03	`03`	`X`	`SPA`	`@0 Ataxia @5 03`
C03	`04`	`X`	`FRE`	`@0 Hypertonie spastique @5 04`
C03	`04`	`X`	`ENG`	`@0 Spasticity @5 04`
C03	`04`	`X`	`SPA`	`@0 Hipertonia espástica @5 04`
C03	`05`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 05`
C03	`05`	`X`	`ENG`	`@0 Nervous system diseases @5 05`
C03	`05`	`X`	`SPA`	`@0 Sistema nervioso patología @5 05`
C03	`06`	`X`	`FRE`	`@0 Glucose @2 NK @5 09`
C03	`06`	`X`	`ENG`	`@0 Glucose @2 NK @5 09`
C03	`06`	`X`	`SPA`	`@0 Glucosa @2 NK @5 09`
C07	`01`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 37`
C07	`01`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 37`
C07	`01`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 37`
C07	`02`	`X`	`FRE`	`@0 Mouvement involontaire @5 38`
C07	`02`	`X`	`ENG`	`@0 Involuntary movement @5 38`
C07	`02`	`X`	`SPA`	`@0 Movimiento involuntario @5 38`
C07	`03`	`X`	`FRE`	`@0 Pathologie du muscle strié @5 39`
C07	`03`	`X`	`ENG`	`@0 Striated muscle disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Músculo estriado patología @5 39`
C07	`04`	`X`	`FRE`	`@0 Trouble neurologique @5 41`
C07	`04`	`X`	`ENG`	`@0 Neurological disorder @5 41`
C07	`04`	`X`	`SPA`	`@0 Trastorno neurológico @5 41`
C07	`05`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 42`
C07	`05`	`X`	`ENG`	`@0 Cerebral disorder @5 42`
C07	`05`	`X`	`SPA`	`@0 Encéfalo patología @5 42`
C07	`06`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 43`
C07	`06`	`X`	`ENG`	`@0 Central nervous system disease @5 43`
C07	`06`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 43`
C07	`07`	`X`	`FRE`	`@0 Trouble du tonus @5 44`
C07	`07`	`X`	`ENG`	`@0 Muscle tonus alteration @5 44`
C07	`07`	`X`	`SPA`	`@0 Trastorno tono muscular @5 44`
N21				`@1 102`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 10-0161569 INIST
ET :	The Spectrum of Movement Disorders in Glut-1 Deficiency
AU :	PONS (Roser); COLLINS (Abbie); ROTSTEIN (Michael); ENGELSTAD (Kristin); DE VIVO (Darryl C.)
AF :	Agia Sofia Hospital, First Department of Pediatrics, University of Athens/Athens/Grèce (1 aut.); Department of Pediatrics, Section of Child Neurology, University of Colorado/Denver, Colorado/Etats-Unis (2 aut.); Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University/New York, New York/Etats-Unis (3 aut., 4 aut., 5 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 3; Pp. 275-281; Bibl. 20 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17H
FD :	Déficit; Dystonie; Ataxie; Hypertonie spastique; Pathologie du système nerveux; Glucose
FG :	Syndrome extrapyramidal; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique; Pathologie de l'encéphale; Pathologie du système nerveux central; Trouble du tonus
ED :	Deficiency; Dystonia; Ataxia; Spasticity; Nervous system diseases; Glucose
EG :	Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease; Muscle tonus alteration
SD :	Déficiencia; Distonía; Ataxia; Hipertonia espástica; Sistema nervioso patología; Glucosa
LO :	INIST-20953.354000181820230040
ID :	10-0161569

Links to Exploration step

Pascal:10-0161569

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">The Spectrum of Movement Disorders in Glut-1 Deficiency</title>
<author><name sortKey="Pons, Roser" sort="Pons, Roser" uniqKey="Pons R" first="Roser" last="Pons">Roser Pons</name>
<affiliation><inist:fA14 i1="01"><s1>Agia Sofia Hospital, First Department of Pediatrics, University of Athens</s1>
<s2>Athens</s2>
<s3>GRC</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Collins, Abbie" sort="Collins, Abbie" uniqKey="Collins A" first="Abbie" last="Collins">Abbie Collins</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Pediatrics, Section of Child Neurology, University of Colorado</s1>
<s2>Denver, Colorado</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Rotstein, Michael" sort="Rotstein, Michael" uniqKey="Rotstein M" first="Michael" last="Rotstein">Michael Rotstein</name>
<affiliation><inist:fA14 i1="03"><s1>Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Engelstad, Kristin" sort="Engelstad, Kristin" uniqKey="Engelstad K" first="Kristin" last="Engelstad">Kristin Engelstad</name>
<affiliation><inist:fA14 i1="03"><s1>Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="03"><s1>Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">10-0161569</idno>
<date when="2010">2010</date>
<idno type="stanalyst">PASCAL 10-0161569 INIST</idno>
<idno type="RBID">Pascal:10-0161569</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000C33</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">The Spectrum of Movement Disorders in Glut-1 Deficiency</title>
<author><name sortKey="Pons, Roser" sort="Pons, Roser" uniqKey="Pons R" first="Roser" last="Pons">Roser Pons</name>
<affiliation><inist:fA14 i1="01"><s1>Agia Sofia Hospital, First Department of Pediatrics, University of Athens</s1>
<s2>Athens</s2>
<s3>GRC</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Collins, Abbie" sort="Collins, Abbie" uniqKey="Collins A" first="Abbie" last="Collins">Abbie Collins</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Pediatrics, Section of Child Neurology, University of Colorado</s1>
<s2>Denver, Colorado</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Rotstein, Michael" sort="Rotstein, Michael" uniqKey="Rotstein M" first="Michael" last="Rotstein">Michael Rotstein</name>
<affiliation><inist:fA14 i1="03"><s1>Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Engelstad, Kristin" sort="Engelstad, Kristin" uniqKey="Engelstad K" first="Kristin" last="Engelstad">Kristin Engelstad</name>
<affiliation><inist:fA14 i1="03"><s1>Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="03"><s1>Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</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="2010">2010</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>Deficiency</term>
<term>Dystonia</term>
<term>Glucose</term>
<term>Nervous system diseases</term>
<term>Spasticity</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Déficit</term>
<term>Dystonie</term>
<term>Ataxie</term>
<term>Hypertonie spastique</term>
<term>Pathologie du   système nerveux</term>
<term>Glucose</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml: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.</div>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0>
</fA01>
<fA03 i2="1"><s0>Mov. disord.</s0>
</fA03>
<fA05><s2>25</s2>
</fA05>
<fA06><s2>3</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>The Spectrum of Movement Disorders in Glut-1 Deficiency</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>PONS (Roser)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>COLLINS (Abbie)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>ROTSTEIN (Michael)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>ENGELSTAD (Kristin)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>DE VIVO (Darryl C.)</s1>
</fA11>
<fA14 i1="01"><s1>Agia Sofia Hospital, First Department of Pediatrics, University of Athens</s1>
<s2>Athens</s2>
<s3>GRC</s3>
<sZ>1 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Pediatrics, Section of Child Neurology, University of Colorado</s1>
<s2>Denver, Colorado</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA20><s1>275-281</s1>
</fA20>
<fA21><s1>2010</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000181820230040</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2010 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>20 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>10-0161569</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17H</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Déficit</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Deficiency</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Déficiencia</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Dystonie</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Dystonia</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Distonía</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Ataxie</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Ataxia</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Ataxia</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Hypertonie spastique</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Spasticity</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Hipertonia espástica</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Glucose</s0>
<s2>NK</s2>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Glucose</s0>
<s2>NK</s2>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Glucosa</s0>
<s2>NK</s2>
<s5>09</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Pathologie du muscle strié</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Trouble du tonus</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Muscle tonus alteration</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Trastorno tono muscular</s0>
<s5>44</s5>
</fC07>
<fN21><s1>102</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 10-0161569 INIST</NO>
<ET>The Spectrum of Movement Disorders in Glut-1 Deficiency</ET>
<AU>PONS (Roser); COLLINS (Abbie); ROTSTEIN (Michael); ENGELSTAD (Kristin); DE VIVO (Darryl C.)</AU>
<AF>Agia Sofia Hospital, First Department of Pediatrics, University of Athens/Athens/Grèce (1 aut.); Department of Pediatrics, Section of Child Neurology, University of Colorado/Denver, Colorado/Etats-Unis (2 aut.); Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University/New York, New York/Etats-Unis (3 aut., 4 aut., 5 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 3; Pp. 275-281; Bibl. 20 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17H</CC>
<FD>Déficit; Dystonie; Ataxie; Hypertonie spastique; Pathologie du système nerveux; Glucose</FD>
<FG>Syndrome extrapyramidal; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique; Pathologie de l'encéphale; Pathologie du   système nerveux central; Trouble du tonus</FG>
<ED>Deficiency; Dystonia; Ataxia; Spasticity; Nervous system diseases; Glucose</ED>
<EG>Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease; Muscle tonus alteration</EG>
<SD>Déficiencia; Distonía; Ataxia; Hipertonia espástica; Sistema nervioso patología; Glucosa</SD>
<LO>INIST-20953.354000181820230040</LO>
<ID>10-0161569</ID>
</server>
</inist>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PascalFrancis/Corpus

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000C33 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Corpus/biblio.hfd -nk 000C33 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PascalFrancis
   |étape=   Corpus
   |type=    RBID
   |clé=     Pascal:10-0161569
   |texte=   The Spectrum of Movement Disorders in Glut-1 Deficiency
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

The Spectrum of Movement Disorders in Glut-1 Deficiency

The Spectrum of Movement Disorders in Glut-1 Deficiency

Source :

Descripteurs français

English descriptors

Abstract

Notice en format standard (ISO 2709)

Format Inist (serveur)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri