Late‐onset presentation of pyruvate dehydrogenase deficiency
Identifieur interne : 003C71 ( Main/Exploration ); précédent : 003C70; suivant : 003C72Late‐onset presentation of pyruvate dehydrogenase deficiency
Auteurs : George Mellick [Australie] ; Lee Price [Australie] ; Richard Boyle [Australie]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-06.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Déficit.
English descriptors
- KwdEn :
- Age Factors, Deficiency, Dehydrogenase, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Movement Disorders (diagnosis), Movement Disorders (etiology), Nervous system diseases, Polymerase Chain Reaction, Putamen (pathology), Putamen (radiography), Pyruvate, Pyruvate Dehydrogenase Complex Deficiency Disease (complications), Pyruvate Dehydrogenase Complex Deficiency Disease (genetics), Tomography, X-Ray Computed, movement disorder, pyruvate dehydrogenase, pyruvate dehydrogenase deficiency.
- MESH :
- complications : Pyruvate Dehydrogenase Complex Deficiency Disease.
- diagnosis : Movement Disorders.
- etiology : Movement Disorders.
- genetics : Pyruvate Dehydrogenase Complex Deficiency Disease.
- pathology : Putamen.
- radiography : Putamen.
- Age Factors, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Polymerase Chain Reaction, Tomography, X-Ray Computed.
Abstract
Two brothers presented in their mid‐forties with movement disorders including atypical parkinsonism, choreiform movements, stereotypies, ataxia and dysarthria. Both brothers showed putaminal lucencies on imaging and, in the proband, a deficiency of the pyruvate dehydrogenase complex (PDHC) was found on skin fibroblast assay. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20063
Affiliations:
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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="2004-06">2004-06</date><biblScope unit="vol">19</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="727">727</biblScope><biblScope unit="page" to="729">729</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">D7D12A003BE5E6AF2FF130C2BA2D77E765F53A60</idno><idno type="DOI">10.1002/mds.20063</idno><idno type="ArticleID">MDS20063</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age Factors</term><term>Deficiency</term><term>Dehydrogenase</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Movement Disorders (diagnosis)</term><term>Movement Disorders (etiology)</term><term>Nervous system diseases</term><term>Polymerase Chain Reaction</term><term>Putamen (pathology)</term><term>Putamen (radiography)</term><term>Pyruvate</term><term>Pyruvate Dehydrogenase Complex Deficiency Disease (complications)</term><term>Pyruvate Dehydrogenase Complex Deficiency Disease (genetics)</term><term>Tomography, X-Ray Computed</term><term>movement disorder</term><term>pyruvate dehydrogenase</term><term>pyruvate dehydrogenase deficiency</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Pyruvate Dehydrogenase Complex Deficiency Disease</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Movement Disorders</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Movement Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Pyruvate Dehydrogenase Complex Deficiency Disease</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Putamen</term></keywords><keywords scheme="MESH" qualifier="radiography" xml:lang="en"><term>Putamen</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age Factors</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Polymerase Chain Reaction</term><term>Tomography, X-Ray Computed</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dehydrogenase</term><term>Déficit</term><term>Pyruvate</term><term>Système nerveux pathologie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Déficit</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Two brothers presented in their mid‐forties with movement disorders including atypical parkinsonism, choreiform movements, stereotypies, ataxia and dysarthria. Both brothers showed putaminal lucencies on imaging and, in the proband, a deficiency of the pyruvate dehydrogenase complex (PDHC) was found on skin fibroblast assay. © 2004 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Australie</li></country></list><tree><country name="Australie"><noRegion><name sortKey="Mellick, George" sort="Mellick, George" uniqKey="Mellick G" first="George" last="Mellick">George Mellick</name></noRegion><name sortKey="Boyle, Richard" sort="Boyle, Richard" uniqKey="Boyle R" first="Richard" last="Boyle">Richard Boyle</name><name sortKey="Price, Lee" sort="Price, Lee" uniqKey="Price L" first="Lee" last="Price">Lee Price</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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