Genetic, clinical, and imaging characterization of one patient with late‐onset, slowly progressive, pantothenate kinase‐associated neurodegeneration
Identifieur interne : 003423 ( Main/Exploration ); précédent : 003422; suivant : 003424Genetic, clinical, and imaging characterization of one patient with late‐onset, slowly progressive, pantothenate kinase‐associated neurodegeneration
Auteurs : Angelo Antonini [Italie] ; Stefano Goldwurm [Italie] ; Riccardo Benti [Italie] ; Holger Prokisch [Allemagne] ; Monika Ebhardt [Allemagne] ; Roberto Cilia [Italie] ; Michela Zini [Italie] ; Andrea Righini [Italie] ; Giovanni Cossu [Italie] ; Gianni Pezzoli [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-03.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Age Factors, Brain (metabolism), Brain (pathology), DNA Mutational Analysis, DaTSCAN/SPECT, Disease Progression, Dopamine Plasma Membrane Transport Proteins, Human, Humans, MRI, Magnetic Resonance Imaging, Male, Middle Aged, Molecular Sequence Data, Nerve Degeneration (diagnosis), Nerve Degeneration (enzymology), Nerve Degeneration (genetics), Nervous system diseases, Nuclear magnetic resonance imaging, PKAN, Pantothenate kinase, Phosphotransferases (Alcohol Group Acceptor) (genetics), Phosphotransferases (Alcohol Group Acceptor) (metabolism), Photon, Point Mutation (genetics), Radiopharmaceuticals (diagnostic use), Radiopharmaceuticals (pharmacokinetics), Single photon emission tomography, Tomography, Emission-Computed, Single-Photon, Tropanes (diagnostic use), Tropanes (pharmacokinetics), genetic.
- MESH :
- chemical , diagnostic use : Radiopharmaceuticals, Tropanes.
- chemical , genetics : Phosphotransferases (Alcohol Group Acceptor).
- chemical , metabolism : Phosphotransferases (Alcohol Group Acceptor).
- chemical , pharmacokinetics : Radiopharmaceuticals, Tropanes.
- chemical : Dopamine Plasma Membrane Transport Proteins.
- diagnosis : Nerve Degeneration.
- enzymology : Nerve Degeneration.
- genetics : Nerve Degeneration, Point Mutation.
- metabolism : Brain.
- pathology : Brain.
- Age Factors, DNA Mutational Analysis, Disease Progression, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Molecular Sequence Data, Tomography, Emission-Computed, Single-Photon.
Abstract
We report on a patient with late‐onset, pantothenate kinase‐associated neurodegeneration (PKAN) who revealed two new heterozygous mutations at gene testing and showed asymmetric moderately reduced striatal dopamine transporter binding with single photon emission computed tomography, possibly due to prolonged neuroleptic treatment. These findings expand the genetic and imaging spectrum of this rare disorder. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20774
Affiliations:
- Allemagne, Italie
- Bavière, District de Haute-Bavière, Lombardie
- Milan, Munich
- Université Louis-et-Maximilien de Munich
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Le document en format XML
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<term>Brain (metabolism)</term>
<term>Brain (pathology)</term>
<term>DNA Mutational Analysis</term>
<term>DaTSCAN/SPECT</term>
<term>Disease Progression</term>
<term>Dopamine Plasma Membrane Transport Proteins</term>
<term>Human</term>
<term>Humans</term>
<term>MRI</term>
<term>Magnetic Resonance Imaging</term>
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<term>Middle Aged</term>
<term>Molecular Sequence Data</term>
<term>Nerve Degeneration (diagnosis)</term>
<term>Nerve Degeneration (enzymology)</term>
<term>Nerve Degeneration (genetics)</term>
<term>Nervous system diseases</term>
<term>Nuclear magnetic resonance imaging</term>
<term>PKAN</term>
<term>Pantothenate kinase</term>
<term>Phosphotransferases (Alcohol Group Acceptor) (genetics)</term>
<term>Phosphotransferases (Alcohol Group Acceptor) (metabolism)</term>
<term>Photon</term>
<term>Point Mutation (genetics)</term>
<term>Radiopharmaceuticals (diagnostic use)</term>
<term>Radiopharmaceuticals (pharmacokinetics)</term>
<term>Single photon emission tomography</term>
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<term>Tropanes (diagnostic use)</term>
<term>Tropanes (pharmacokinetics)</term>
<term>genetic</term>
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<term>Middle Aged</term>
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<front><div type="abstract" xml:lang="en">We report on a patient with late‐onset, pantothenate kinase‐associated neurodegeneration (PKAN) who revealed two new heterozygous mutations at gene testing and showed asymmetric moderately reduced striatal dopamine transporter binding with single photon emission computed tomography, possibly due to prolonged neuroleptic treatment. These findings expand the genetic and imaging spectrum of this rare disorder. © 2005 Movement Disorder Society</div>
</front>
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<li>Italie</li>
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<region><li>Bavière</li>
<li>District de Haute-Bavière</li>
<li>Lombardie</li>
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<settlement><li>Milan</li>
<li>Munich</li>
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<tree><country name="Italie"><region name="Lombardie"><name sortKey="Antonini, Angelo" sort="Antonini, Angelo" uniqKey="Antonini A" first="Angelo" last="Antonini">Angelo Antonini</name>
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<name sortKey="Benti, Riccardo" sort="Benti, Riccardo" uniqKey="Benti R" first="Riccardo" last="Benti">Riccardo Benti</name>
<name sortKey="Cilia, Roberto" sort="Cilia, Roberto" uniqKey="Cilia R" first="Roberto" last="Cilia">Roberto Cilia</name>
<name sortKey="Cossu, Giovanni" sort="Cossu, Giovanni" uniqKey="Cossu G" first="Giovanni" last="Cossu">Giovanni Cossu</name>
<name sortKey="Goldwurm, Stefano" sort="Goldwurm, Stefano" uniqKey="Goldwurm S" first="Stefano" last="Goldwurm">Stefano Goldwurm</name>
<name sortKey="Pezzoli, Gianni" sort="Pezzoli, Gianni" uniqKey="Pezzoli G" first="Gianni" last="Pezzoli">Gianni Pezzoli</name>
<name sortKey="Righini, Andrea" sort="Righini, Andrea" uniqKey="Righini A" first="Andrea" last="Righini">Andrea Righini</name>
<name sortKey="Zini, Michela" sort="Zini, Michela" uniqKey="Zini M" first="Michela" last="Zini">Michela Zini</name>
</country>
<country name="Allemagne"><region name="Bavière"><name sortKey="Prokisch, Holger" sort="Prokisch, Holger" uniqKey="Prokisch H" first="Holger" last="Prokisch">Holger Prokisch</name>
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<name sortKey="Ebhardt, Monika" sort="Ebhardt, Monika" uniqKey="Ebhardt M" first="Monika" last="Ebhardt">Monika Ebhardt</name>
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