GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias
Identifieur interne : 002296 ( Main/Exploration ); précédent : 002295; suivant : 002297GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias
Auteurs : Susanne A. Schneider [Royaume-Uni] ; Coro Paisan-Ruiz [Royaume-Uni] ; Ines Garcia-Gorostiaga [Royaume-Uni, Espagne] ; Niall P. Quinn [Royaume-Uni] ; Yvonne G. Weber ; Holger Lerche [Allemagne] ; John Hardy [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-08-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Age of Onset, Amino Acid Substitution, Atrophy, Brain (pathology), Cerebellum (pathology), Chromosomes, Human, Pair 1 (genetics), Comorbidity, DNA Mutational Analysis, Dyskinesia, Epilepsy, Absence (epidemiology), Exercise, Female, GLUT-1 glucose transporter, GLUT1, Genetic Heterogeneity, Genotype, Glucose Transporter Type 1 (deficiency), Glucose Transporter Type 1 (genetics), Histocompatibility Antigens Class I (genetics), Humans, Male, Migraine Disorders (epidemiology), Movement Disorders (diet therapy), Movement Disorders (drug therapy), Movement Disorders (epidemiology), Movement Disorders (genetics), Mutation, Mutation, Missense, Nervous system diseases, PED, Phenotype, Physical exercise, Point Mutation, Sporadic, genotype phenotype, paroxysmal dyskinesias.
- MESH :
- chemical , deficiency : Glucose Transporter Type 1.
- diet therapy : Movement Disorders.
- drug therapy : Movement Disorders.
- epidemiology : Epilepsy, Absence, Migraine Disorders, Movement Disorders.
- genetics : Chromosomes, Human, Pair 1, Glucose Transporter Type 1, Histocompatibility Antigens Class I, Movement Disorders.
- pathology : Brain, Cerebellum.
- Age of Onset, Amino Acid Substitution, Atrophy, Comorbidity, DNA Mutational Analysis, Exercise, Female, Genetic Heterogeneity, Humans, Male, Mutation, Missense, Point Mutation.
Abstract
Paroxysmal exercise‐induced dyskinesias (PED) are involuntary intermittent movements triggered by prolonged physical exertion. Autosomal dominant inheritance may occur. Recently, mutations in the glucose transporter 1 (GLUT1) gene (chr. 1p35–p31.3) have been identified as a cause in some patients with autosomal dominant PED. Mutations in this gene have previously been associated with the GLUT1 deficiency syndrome. We performed mutational analysis in 10 patients with apparently sporadic PED. We identified two novel GLUT1 mutations, at least one likely to be de‐novo, in two of our patients. Onset was in early childhood. One of our patients had a predating history of childhood absence epilepsy and a current history of hemiplegic migraine as well as a family history of migraine. The other patient had no other symptoms apart from PED. Brain MRI showed cerebellar atrophy in one case. Mutations in GLUT1 are one cause of apparently sporadic PED. The detection of this has important implications for treatment as ketogenic diet has been reported to be beneficial. © 2009 Movement Disorder Society
Url:
DOI: 10.1002/mds.22507
Affiliations:
- Allemagne, Espagne, Royaume-Uni
- Angleterre, Bade-Wurtemberg, District de Tübingen, Grand Londres
- Londres, Ulm
- Université d'Ulm
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Le document en format XML
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-08-15">2009-08-15</date><biblScope unit="vol">24</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1684">1684</biblScope><biblScope unit="page" to="1688">1688</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">AE04B8F29FE19AFF00CDA4CCA459917C1C5B4FC7</idno><idno type="DOI">10.1002/mds.22507</idno><idno type="ArticleID">MDS22507</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of Onset</term><term>Amino Acid Substitution</term><term>Atrophy</term><term>Brain (pathology)</term><term>Cerebellum (pathology)</term><term>Chromosomes, Human, Pair 1 (genetics)</term><term>Comorbidity</term><term>DNA Mutational Analysis</term><term>Dyskinesia</term><term>Epilepsy, Absence (epidemiology)</term><term>Exercise</term><term>Female</term><term>GLUT-1 glucose transporter</term><term>GLUT1</term><term>Genetic Heterogeneity</term><term>Genotype</term><term>Glucose Transporter Type 1 (deficiency)</term><term>Glucose Transporter Type 1 (genetics)</term><term>Histocompatibility Antigens Class I (genetics)</term><term>Humans</term><term>Male</term><term>Migraine Disorders (epidemiology)</term><term>Movement Disorders (diet therapy)</term><term>Movement Disorders (drug therapy)</term><term>Movement Disorders (epidemiology)</term><term>Movement Disorders (genetics)</term><term>Mutation</term><term>Mutation, Missense</term><term>Nervous system diseases</term><term>PED</term><term>Phenotype</term><term>Physical exercise</term><term>Point Mutation</term><term>Sporadic</term><term>genotype phenotype</term><term>paroxysmal dyskinesias</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Glucose Transporter Type 1</term></keywords><keywords scheme="MESH" qualifier="diet therapy" xml:lang="en"><term>Movement Disorders</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Movement Disorders</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Epilepsy, Absence</term><term>Migraine Disorders</term><term>Movement Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 1</term><term>Glucose Transporter Type 1</term><term>Histocompatibility Antigens Class I</term><term>Movement Disorders</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Cerebellum</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term><term>Amino Acid Substitution</term><term>Atrophy</term><term>Comorbidity</term><term>DNA Mutational Analysis</term><term>Exercise</term><term>Female</term><term>Genetic Heterogeneity</term><term>Humans</term><term>Male</term><term>Mutation, Missense</term><term>Point Mutation</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dyskinésie</term><term>Exercice physique</term><term>Génotype</term><term>Mutation</term><term>Pathologie du système nerveux</term><term>Phénotype</term><term>Sporadique</term><term>Transporteur glucose GLUT-1</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Paroxysmal exercise‐induced dyskinesias (PED) are involuntary intermittent movements triggered by prolonged physical exertion. Autosomal dominant inheritance may occur. Recently, mutations in the glucose transporter 1 (GLUT1) gene (chr. 1p35–p31.3) have been identified as a cause in some patients with autosomal dominant PED. Mutations in this gene have previously been associated with the GLUT1 deficiency syndrome. We performed mutational analysis in 10 patients with apparently sporadic PED. We identified two novel GLUT1 mutations, at least one likely to be de‐novo, in two of our patients. Onset was in early childhood. One of our patients had a predating history of childhood absence epilepsy and a current history of hemiplegic migraine as well as a family history of migraine. The other patient had no other symptoms apart from PED. Brain MRI showed cerebellar atrophy in one case. Mutations in GLUT1 are one cause of apparently sporadic PED. The detection of this has important implications for treatment as ketogenic diet has been reported to be beneficial. © 2009 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Espagne</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Bade-Wurtemberg</li><li>District de Tübingen</li><li>Grand Londres</li></region><settlement><li>Londres</li><li>Ulm</li></settlement><orgName><li>Université d'Ulm</li></orgName></list><tree><noCountry><name sortKey="Weber, Yvonne G" sort="Weber, Yvonne G" uniqKey="Weber Y" first="Yvonne G." last="Weber">Yvonne G. Weber</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name></region><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><name sortKey="Garcia Orostiaga, Ines" sort="Garcia Orostiaga, Ines" uniqKey="Garcia Orostiaga I" first="Ines" last="Garcia-Gorostiaga">Ines Garcia-Gorostiaga</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><name sortKey="Paisan Uiz, Coro" sort="Paisan Uiz, Coro" uniqKey="Paisan Uiz C" first="Coro" last="Paisan-Ruiz">Coro Paisan-Ruiz</name><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. Quinn</name></country><country name="Espagne"><noRegion><name sortKey="Garcia Orostiaga, Ines" sort="Garcia Orostiaga, Ines" uniqKey="Garcia Orostiaga I" first="Ines" last="Garcia-Gorostiaga">Ines Garcia-Gorostiaga</name></noRegion></country><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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