Late-onset presentation of pyruvate dehydrogenase deficiency.
Identifieur interne : 000E58 ( Ncbi/Checkpoint ); précédent : 000E57; suivant : 000E59Late-onset presentation of pyruvate dehydrogenase deficiency.
Auteurs : George Mellick [Australie] ; Lee Price ; Richard BoyleSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.
English descriptors
- KwdEn :
- Age Factors, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Movement Disorders (diagnosis), Movement Disorders (etiology), Polymerase Chain Reaction, Putamen (pathology), Putamen (radiography), Pyruvate Dehydrogenase Complex Deficiency Disease (complications), Pyruvate Dehydrogenase Complex Deficiency Disease (genetics), Tomography, X-Ray Computed.
- 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.
DOI: 10.1002/mds.20063
PubMed: 15197721
Affiliations:
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pubmed:15197721Le document en format XML
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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.</div></front></TEI><affiliations><list><country><li>Australie</li></country></list><tree><noCountry><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></noCountry><country name="Australie"><noRegion><name sortKey="Mellick, George" sort="Mellick, George" uniqKey="Mellick G" first="George" last="Mellick">George Mellick</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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