The spectrum of movement disorders in Glut-1 deficiency.
Identifieur interne : 001553 ( PubMed/Checkpoint ); précédent : 001552; suivant : 001554The spectrum of movement disorders in Glut-1 deficiency.
Auteurs : Roser Pons [Grèce] ; Abbie Collins ; Michael Rotstein ; Kristin Engelstad ; Darryl C. De VivoSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Adolescent, Adult, Child, Child, Preschool, Female, Gait Disorders, Neurologic (diet therapy), Gait Disorders, Neurologic (etiology), Gait Disorders, Neurologic (genetics), Glucose (cerebrospinal fluid), Glucose Metabolism Disorders (cerebrospinal fluid), Glucose Metabolism Disorders (complications), Glucose Metabolism Disorders (genetics), Glucose Transporter Type 1 (deficiency), Humans, Infant, Ketogenic Diet (methods), Longitudinal Studies, Male, Movement Disorders (classification), Movement Disorders (diet therapy), Movement Disorders (etiology), Movement Disorders (genetics), Severity of Illness Index, Stereotyped Behavior (physiology), Video Recording, Young Adult.
- MESH :
- chemical , cerebrospinal fluid : Glucose.
- cerebrospinal fluid : Glucose Metabolism Disorders.
- classification : Movement Disorders.
- complications : Glucose Metabolism Disorders.
- chemical , deficiency : Glucose Transporter Type 1.
- diet therapy : Gait Disorders, Neurologic, Movement Disorders.
- etiology : Gait Disorders, Neurologic, Movement Disorders.
- genetics : Gait Disorders, Neurologic, Glucose Metabolism Disorders, Movement Disorders.
- methods : Ketogenic Diet.
- physiology : Stereotyped Behavior.
- Adolescent, Adult, Child, Child, Preschool, Female, Humans, Infant, Longitudinal Studies, Male, Severity of Illness Index, Video Recording, Young Adult.
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.
DOI: 10.1002/mds.22808
PubMed: 20063428
Affiliations:
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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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20063428</PMID><DateCreated><Year>2010</Year><Month>03</Month><Day>03</Day></DateCreated><DateCompleted><Year>2010</Year><Month>06</Month><Day>02</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>3</Issue><PubDate><Year>2010</Year><Month>Feb</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>The spectrum of movement disorders in Glut-1 deficiency.</ArticleTitle><Pagination><MedlinePgn>275-81</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22808</ELocationID><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>(c) 2009 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Pons</LastName><ForeName>Roser</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Agia Sofia Hospital, First Department of Pediatrics, University of Athens, Athens, Greece.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Collins</LastName><ForeName>Abbie</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Rotstein</LastName><ForeName>Michael</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Engelstad</LastName><ForeName>Kristin</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>De Vivo</LastName><ForeName>Darryl C</ForeName><Initials>DC</Initials></Author></AuthorList><Language>eng</Language><GrantList 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Collins</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="Engelstad, Kristin" sort="Engelstad, Kristin" uniqKey="Engelstad K" first="Kristin" last="Engelstad">Kristin Engelstad</name><name sortKey="Rotstein, Michael" sort="Rotstein, Michael" uniqKey="Rotstein M" first="Michael" last="Rotstein">Michael Rotstein</name></noCountry><country name="Grèce"><noRegion><name sortKey="Pons, Roser" sort="Pons, Roser" uniqKey="Pons R" first="Roser" last="Pons">Roser Pons</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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