GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
Identifieur interne : 002760 ( Ncbi/Checkpoint ); précédent : 002759; suivant : 002761GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
Auteurs : Susanne A. Schneider [Royaume-Uni] ; Coro Paisan-Ruiz ; Ines Garcia-Gorostiaga ; Niall P. Quinn ; Yvonne G. Weber ; Holger Lerche ; John Hardy ; Kailash P. BhatiaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Age of Onset, Amino Acid Substitution, Atrophy, Brain (pathology), Cerebellum (pathology), Chromosomes, Human, Pair 1 (genetics), Comorbidity, DNA Mutational Analysis, Epilepsy, Absence (epidemiology), Exercise, Female, Genetic Heterogeneity, 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, Missense, Point Mutation.
- 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.
DOI: 10.1002/mds.22507
PubMed: 19630075
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 001C17
- to stream PubMed, to step Curation: 001C17
- to stream PubMed, to step Checkpoint: 001E01
- to stream Ncbi, to step Merge: 002760
- to stream Ncbi, to step Curation: 002760
Links to Exploration step
pubmed:19630075Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.</title><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A" last="Schneider">Susanne A. Schneider</name><affiliation wicri:level="3"><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Paisan Ruiz, Coro" sort="Paisan Ruiz, Coro" uniqKey="Paisan Ruiz C" first="Coro" last="Paisan-Ruiz">Coro Paisan-Ruiz</name></author><author><name sortKey="Garcia Gorostiaga, Ines" sort="Garcia Gorostiaga, Ines" uniqKey="Garcia Gorostiaga I" first="Ines" last="Garcia-Gorostiaga">Ines Garcia-Gorostiaga</name></author><author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P" last="Quinn">Niall P. Quinn</name></author><author><name sortKey="Weber, Yvonne G" sort="Weber, Yvonne G" uniqKey="Weber Y" first="Yvonne G" last="Weber">Yvonne G. Weber</name></author><author><name sortKey="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="doi">10.1002/mds.22507</idno><idno type="RBID">pubmed:19630075</idno><idno type="pmid">19630075</idno><idno type="wicri:Area/PubMed/Corpus">001C17</idno><idno type="wicri:Area/PubMed/Curation">001C17</idno><idno type="wicri:Area/PubMed/Checkpoint">001E01</idno><idno type="wicri:Area/Ncbi/Merge">002760</idno><idno type="wicri:Area/Ncbi/Curation">002760</idno><idno type="wicri:Area/Ncbi/Checkpoint">002760</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.</title><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A" last="Schneider">Susanne A. Schneider</name><affiliation wicri:level="3"><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Paisan Ruiz, Coro" sort="Paisan Ruiz, Coro" uniqKey="Paisan Ruiz C" first="Coro" last="Paisan-Ruiz">Coro Paisan-Ruiz</name></author><author><name sortKey="Garcia Gorostiaga, Ines" sort="Garcia Gorostiaga, Ines" uniqKey="Garcia Gorostiaga I" first="Ines" last="Garcia-Gorostiaga">Ines Garcia-Gorostiaga</name></author><author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P" last="Quinn">Niall P. Quinn</name></author><author><name sortKey="Weber, Yvonne G" sort="Weber, Yvonne G" uniqKey="Weber Y" first="Yvonne G" last="Weber">Yvonne G. Weber</name></author><author><name sortKey="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></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>Epilepsy, Absence (epidemiology)</term><term>Exercise</term><term>Female</term><term>Genetic Heterogeneity</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, Missense</term><term>Point Mutation</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></textClass></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.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><noCountry><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name><name sortKey="Garcia Gorostiaga, Ines" sort="Garcia Gorostiaga, Ines" uniqKey="Garcia Gorostiaga 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="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name><name sortKey="Paisan Ruiz, Coro" sort="Paisan Ruiz, Coro" uniqKey="Paisan Ruiz 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><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002760 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd -nk 002760 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Ncbi
|étape= Checkpoint
|type= RBID
|clé= pubmed:19630075
|texte= GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/RBID.i -Sk "pubmed:19630075" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |