MovDisordV3, Main, Exploration, bibRecord, 001947

The spectrum of movement disorders in Glut‐1 deficiency

Identifieur interne : 001947 ( Main/Exploration ); précédent : 001946; suivant : 001948

The spectrum of movement disorders in Glut‐1 deficiency

Auteurs : Roser Pons [Grèce] ; Abbie Collins [États-Unis] ; Michael Rotstein [États-Unis] ; Kristin Engelstad [États-Unis] ; Darryl C. De Vivo [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2010-02-15.

RBID : ISTEX:CCE9A78FC2A5BF9A8DEAEBFA89D6019DA9D44DB7

Descripteurs français

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

English descriptors

KwdEn :
- Adolescent, Adult, Ataxia, Child, Child, Preschool, Deficiency, Dystonia, Female, Gait Disorders, Neurologic (diet therapy), Gait Disorders, Neurologic (etiology), Gait Disorders, Neurologic (genetics), Glucose, 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), Nervous system diseases, Severity of Illness Index, Spasticity, Stereotyped Behavior (physiology), Video Recording, Young Adult, ataxia, dystonia, glucose, paroxysms, spasticity.
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. © 2009 Movement Disorder Society

Url:

https://api.istex.fr/document/CCE9A78FC2A5BF9A8DEAEBFA89D6019DA9D44DB7/fulltext/pdf

DOI: 10.1002/mds.22808

Affiliations:

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<term>Deficiency</term>
<term>Dystonia</term>
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<term>Movement Disorders (classification)</term>
<term>Movement Disorders (diet therapy)</term>
<term>Movement Disorders (etiology)</term>
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<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. © 2009 Movement Disorder Society</div>
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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

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	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.