Movement disorders in adult surviving patients with maple syrup urine disease
Identifieur interne : 001534 ( Main/Exploration ); précédent : 001533; suivant : 001535Movement disorders in adult surviving patients with maple syrup urine disease
Auteurs : Miryam Carecchio [Royaume-Uni, Italie] ; Susanne A. Schneider [Royaume-Uni, Allemagne] ; Heidi Chan [Royaume-Uni] ; Robin Lachmann [Royaume-Uni] ; Philip J. Lee [Royaume-Uni] ; Elaine Murphy [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-06.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adolescent, Adult, Age Distribution, Dystonia, Dystonia (diagnosis), Dystonia (epidemiology), Female, Gait Disorders, Neurologic (diagnosis), Gait Disorders, Neurologic (epidemiology), Human, Humans, Leucinosis, Male, Maple Syrup Urine Disease (epidemiology), Mental Disorders (diagnosis), Mental Disorders (epidemiology), Middle Aged, Movement Disorders (diagnosis), Movement Disorders (epidemiology), Nervous system diseases, Neurologic Examination, Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (epidemiology), Parkinsonism, Prevalence, Survivors (statistics & numerical data), Tremor (diagnosis), Tremor (epidemiology), Young Adult, dystonia, maple syrup urine disease, metabolic, movement disorders, parkinsonism.
- MESH :
- diagnosis : Dystonia, Gait Disorders, Neurologic, Mental Disorders, Movement Disorders, Parkinsonian Disorders, Tremor.
- epidemiology : Dystonia, Gait Disorders, Neurologic, Maple Syrup Urine Disease, Mental Disorders, Movement Disorders, Parkinsonian Disorders, Tremor.
- statistics & numerical data : Survivors.
- Adolescent, Adult, Age Distribution, Female, Humans, Male, Middle Aged, Neurologic Examination, Prevalence, Young Adult.
Abstract
Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branched‐chain α‐keto acid dehydrogenase complex gene. Patients generally present early in life with a toxic encephalopathy because of the accumulation of the branched‐chain amino acids leucine, isoleucine, and valine and the corresponding ketoacids. Movement disorders in maple syrup urine disease have typically been described during decompensation episodes or at presentation in the context of a toxic encephalopathy, with complete resolution after appropriate dietary treatment. Movement disorders in patients surviving childhood are not well documented. We assessed 17 adult patients with maple syrup urine disease (mean age, 27.5 years) with a special focus on movement disorders. Twelve (70.6%) had a movement disorder on clinical examination, mainly tremor and dystonia or a combination of both. Parkinsonism and simple motor tics were also observed. Pyramidal signs were present in 11 patients (64.7%), and a spastic‐dystonic gait was observed in 6 patients (35.2%). In summary, movement disorders are common in treated adult patients with maple syrup urine disease, and careful neurological examination is advisable to identify those who may benefit from specific therapy. © 2011 Movement Disorder Society
Url:
- https://api.istex.fr/document/1F8B1FDBE92F2EC85C69987B44E201D78C82A6C6/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235248
DOI: 10.1002/mds.23629
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002057
- to stream Istex, to step Curation: 002057
- to stream Istex, to step Checkpoint: 000266
- to stream Pmc, to step Corpus: 000234
- to stream Pmc, to step Curation: 000234
- to stream Pmc, to step Checkpoint: 000251
- to stream PubMed, to step Corpus: 001296
- to stream PubMed, to step Curation: 001296
- to stream PubMed, to step Checkpoint: 001221
- to stream Ncbi, to step Merge: 003131
- to stream Ncbi, to step Curation: 003131
- to stream Ncbi, to step Checkpoint: 003131
- to stream Main, to step Merge: 001587
- to stream PascalFrancis, to step Corpus: 000544
- to stream PascalFrancis, to step Curation: 002774
- to stream PascalFrancis, to step Checkpoint: 000499
- to stream Main, to step Merge: 001A89
- to stream Main, to step Curation: 001534
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Movement disorders in adult surviving patients with maple syrup urine disease</title><author><name sortKey="Carecchio, Miryam" sort="Carecchio, Miryam" uniqKey="Carecchio M" first="Miryam" last="Carecchio">Miryam Carecchio</name></author><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name></author><author><name sortKey="Chan, Heidi" sort="Chan, Heidi" uniqKey="Chan H" first="Heidi" last="Chan">Heidi Chan</name></author><author><name sortKey="Lachmann, Robin" sort="Lachmann, Robin" uniqKey="Lachmann R" first="Robin" last="Lachmann">Robin Lachmann</name></author><author><name sortKey="Lee, Philip J" sort="Lee, Philip J" uniqKey="Lee P" first="Philip J." last="Lee">Philip J. Lee</name></author><author><name sortKey="Murphy, Elaine" sort="Murphy, Elaine" uniqKey="Murphy E" first="Elaine" last="Murphy">Elaine Murphy</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">ISTEX</idno><idno type="RBID">ISTEX:1F8B1FDBE92F2EC85C69987B44E201D78C82A6C6</idno><date when="2011" year="2011">2011</date><idno type="doi">10.1002/mds.23629</idno><idno type="url">https://api.istex.fr/document/1F8B1FDBE92F2EC85C69987B44E201D78C82A6C6/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002057</idno><idno type="wicri:Area/Istex/Curation">002057</idno><idno type="wicri:Area/Istex/Checkpoint">000266</idno><idno type="wicri:doubleKey">0885-3185:2011:Carecchio M:movement:disorders:in</idno><idno type="wicri:source">PMC</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235248</idno><idno type="RBID">PMC:4235248</idno><idno type="wicri:Area/Pmc/Corpus">000234</idno><idno type="wicri:Area/Pmc/Curation">000234</idno><idno type="wicri:Area/Pmc/Checkpoint">000251</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">001296</idno><idno type="wicri:Area/PubMed/Curation">001296</idno><idno type="wicri:Area/PubMed/Checkpoint">001221</idno><idno type="wicri:Area/Ncbi/Merge">003131</idno><idno type="wicri:Area/Ncbi/Curation">003131</idno><idno type="wicri:Area/Ncbi/Checkpoint">003131</idno><idno type="wicri:doubleKey">0885-3185:2011:Carecchio M:movement:disorders:in</idno><idno type="wicri:Area/Main/Merge">001587</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:11-0321222</idno><idno type="wicri:Area/PascalFrancis/Corpus">000544</idno><idno type="wicri:Area/PascalFrancis/Curation">002774</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000499</idno><idno type="wicri:doubleKey">0885-3185:2011:Carecchio M:movement:disorders:in</idno><idno type="wicri:Area/Main/Merge">001A89</idno><idno type="wicri:Area/Main/Curation">001534</idno><idno type="wicri:Area/Main/Exploration">001534</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Movement disorders in adult surviving patients with maple syrup urine disease</title><author><name sortKey="Carecchio, Miryam" sort="Carecchio, Miryam" uniqKey="Carecchio M" first="Miryam" last="Carecchio">Miryam Carecchio</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, Amedeo Avogadro University, Novara</wicri:regionArea><wicri:noRegion>Novara</wicri:noRegion></affiliation></author><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"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck</wicri:regionArea><wicri:noRegion>Luebeck</wicri:noRegion><wicri:noRegion>Luebeck</wicri:noRegion></affiliation></author><author><name sortKey="Chan, Heidi" sort="Chan, Heidi" uniqKey="Chan H" first="Heidi" last="Chan">Heidi Chan</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, 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="Lachmann, Robin" sort="Lachmann, Robin" uniqKey="Lachmann R" first="Robin" last="Lachmann">Robin Lachmann</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, 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="Lee, Philip J" sort="Lee, Philip J" uniqKey="Lee P" first="Philip J." last="Lee">Philip J. Lee</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, 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="Murphy, Elaine" sort="Murphy, Elaine" uniqKey="Murphy E" first="Elaine" last="Murphy">Elaine Murphy</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, 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="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, 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></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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="2011-06">2011-06</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1324">1324</biblScope><biblScope unit="page" to="1328">1328</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">1F8B1FDBE92F2EC85C69987B44E201D78C82A6C6</idno><idno type="DOI">10.1002/mds.23629</idno><idno type="ArticleID">MDS23629</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age Distribution</term><term>Dystonia</term><term>Dystonia (diagnosis)</term><term>Dystonia (epidemiology)</term><term>Female</term><term>Gait Disorders, Neurologic (diagnosis)</term><term>Gait Disorders, Neurologic (epidemiology)</term><term>Human</term><term>Humans</term><term>Leucinosis</term><term>Male</term><term>Maple Syrup Urine Disease (epidemiology)</term><term>Mental Disorders (diagnosis)</term><term>Mental Disorders (epidemiology)</term><term>Middle Aged</term><term>Movement Disorders (diagnosis)</term><term>Movement Disorders (epidemiology)</term><term>Nervous system diseases</term><term>Neurologic Examination</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (epidemiology)</term><term>Parkinsonism</term><term>Prevalence</term><term>Survivors (statistics & numerical data)</term><term>Tremor (diagnosis)</term><term>Tremor (epidemiology)</term><term>Young Adult</term><term>dystonia</term><term>maple syrup urine disease</term><term>metabolic</term><term>movement disorders</term><term>parkinsonism</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonia</term><term>Gait Disorders, Neurologic</term><term>Mental Disorders</term><term>Movement Disorders</term><term>Parkinsonian Disorders</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Dystonia</term><term>Gait Disorders, Neurologic</term><term>Maple Syrup Urine Disease</term><term>Mental Disorders</term><term>Movement Disorders</term><term>Parkinsonian Disorders</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="statistics & numerical data" xml:lang="en"><term>Survivors</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age Distribution</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Prevalence</term><term>Young Adult</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Homme</term><term>Leucinose</term><term>Parkinsonisme</term><term>Pathologie du système nerveux</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branched‐chain α‐keto acid dehydrogenase complex gene. Patients generally present early in life with a toxic encephalopathy because of the accumulation of the branched‐chain amino acids leucine, isoleucine, and valine and the corresponding ketoacids. Movement disorders in maple syrup urine disease have typically been described during decompensation episodes or at presentation in the context of a toxic encephalopathy, with complete resolution after appropriate dietary treatment. Movement disorders in patients surviving childhood are not well documented. We assessed 17 adult patients with maple syrup urine disease (mean age, 27.5 years) with a special focus on movement disorders. Twelve (70.6%) had a movement disorder on clinical examination, mainly tremor and dystonia or a combination of both. Parkinsonism and simple motor tics were also observed. Pyramidal signs were present in 11 patients (64.7%), and a spastic‐dystonic gait was observed in 6 patients (35.2%). In summary, movement disorders are common in treated adult patients with maple syrup urine disease, and careful neurological examination is advisable to identify those who may benefit from specific therapy. © 2011 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Italie</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Carecchio, Miryam" sort="Carecchio, Miryam" uniqKey="Carecchio M" first="Miryam" last="Carecchio">Miryam Carecchio</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="Chan, Heidi" sort="Chan, Heidi" uniqKey="Chan H" first="Heidi" last="Chan">Heidi Chan</name><name sortKey="Lachmann, Robin" sort="Lachmann, Robin" uniqKey="Lachmann R" first="Robin" last="Lachmann">Robin Lachmann</name><name sortKey="Lee, Philip J" sort="Lee, Philip J" uniqKey="Lee P" first="Philip J." last="Lee">Philip J. Lee</name><name sortKey="Murphy, Elaine" sort="Murphy, Elaine" uniqKey="Murphy E" first="Elaine" last="Murphy">Elaine Murphy</name><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name></country><country name="Italie"><noRegion><name sortKey="Carecchio, Miryam" sort="Carecchio, Miryam" uniqKey="Carecchio M" first="Miryam" last="Carecchio">Miryam Carecchio</name></noRegion></country><country name="Allemagne"><noRegion><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001534 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001534 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:1F8B1FDBE92F2EC85C69987B44E201D78C82A6C6
|texte= Movement disorders in adult surviving patients with maple syrup urine disease
}}
| This area was generated with Dilib version V0.6.23. |  |