Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration.
Identifieur interne : 001531 ( Ncbi/Curation ); précédent : 001530; suivant : 001532Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration.
Auteurs : Angelo Antonini [Italie] ; Stefano Goldwurm ; Riccardo Benti ; Holger Prokisch ; Monika Ebhardt ; Roberto Cilia ; Michela Zini ; Andrea Righini ; Giovanni Cossu ; Gianni PezzoliSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
English descriptors
- KwdEn :
- Age Factors, Brain (metabolism), Brain (pathology), DNA Mutational Analysis, Disease Progression, Dopamine Plasma Membrane Transport Proteins, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Molecular Sequence Data, Nerve Degeneration (diagnosis), Nerve Degeneration (enzymology), Nerve Degeneration (genetics), Phosphotransferases (Alcohol Group Acceptor) (genetics), Phosphotransferases (Alcohol Group Acceptor) (metabolism), Point Mutation (genetics), Radiopharmaceuticals (diagnostic use), Radiopharmaceuticals (pharmacokinetics), Tomography, Emission-Computed, Single-Photon, Tropanes (diagnostic use), Tropanes (pharmacokinetics).
- 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.
DOI: 10.1002/mds.20774
PubMed: 16267847
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002D98
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :002D98
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :002D14
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :001531
Links to Exploration step
pubmed:16267847Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration.</title><author><name sortKey="Antonini, Angelo" sort="Antonini, Angelo" uniqKey="Antonini A" first="Angelo" last="Antonini">Angelo Antonini</name><affiliation wicri:level="3"><nlm:affiliation>Parkinson Institute and Neuroradiology, Istituti Clinici di Perfezionamento, Milan, Italy. angelo3000@yahoo.com</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Parkinson Institute and Neuroradiology, Istituti Clinici di Perfezionamento, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Goldwurm, Stefano" sort="Goldwurm, Stefano" uniqKey="Goldwurm S" first="Stefano" last="Goldwurm">Stefano Goldwurm</name></author><author><name sortKey="Benti, Riccardo" sort="Benti, Riccardo" uniqKey="Benti R" first="Riccardo" last="Benti">Riccardo Benti</name></author><author><name sortKey="Prokisch, Holger" sort="Prokisch, Holger" uniqKey="Prokisch H" first="Holger" last="Prokisch">Holger Prokisch</name></author><author><name sortKey="Ebhardt, Monika" sort="Ebhardt, Monika" uniqKey="Ebhardt M" first="Monika" last="Ebhardt">Monika Ebhardt</name></author><author><name sortKey="Cilia, Roberto" sort="Cilia, Roberto" uniqKey="Cilia R" first="Roberto" last="Cilia">Roberto Cilia</name></author><author><name sortKey="Zini, Michela" sort="Zini, Michela" uniqKey="Zini M" first="Michela" last="Zini">Michela Zini</name></author><author><name sortKey="Righini, Andrea" sort="Righini, Andrea" uniqKey="Righini A" first="Andrea" last="Righini">Andrea Righini</name></author><author><name sortKey="Cossu, Giovanni" sort="Cossu, Giovanni" uniqKey="Cossu G" first="Giovanni" last="Cossu">Giovanni Cossu</name></author><author><name sortKey="Pezzoli, Gianni" sort="Pezzoli, Gianni" uniqKey="Pezzoli G" first="Gianni" last="Pezzoli">Gianni Pezzoli</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.20774</idno><idno type="RBID">pubmed:16267847</idno><idno type="pmid">16267847</idno><idno type="wicri:Area/PubMed/Corpus">002D98</idno><idno type="wicri:Area/PubMed/Curation">002D98</idno><idno type="wicri:Area/PubMed/Checkpoint">002D14</idno><idno type="wicri:Area/Ncbi/Merge">001531</idno><idno type="wicri:Area/Ncbi/Curation">001531</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration.</title><author><name sortKey="Antonini, Angelo" sort="Antonini, Angelo" uniqKey="Antonini A" first="Angelo" last="Antonini">Angelo Antonini</name><affiliation wicri:level="3"><nlm:affiliation>Parkinson Institute and Neuroradiology, Istituti Clinici di Perfezionamento, Milan, Italy. angelo3000@yahoo.com</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Parkinson Institute and Neuroradiology, Istituti Clinici di Perfezionamento, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Goldwurm, Stefano" sort="Goldwurm, Stefano" uniqKey="Goldwurm S" first="Stefano" last="Goldwurm">Stefano Goldwurm</name></author><author><name sortKey="Benti, Riccardo" sort="Benti, Riccardo" uniqKey="Benti R" first="Riccardo" last="Benti">Riccardo Benti</name></author><author><name sortKey="Prokisch, Holger" sort="Prokisch, Holger" uniqKey="Prokisch H" first="Holger" last="Prokisch">Holger Prokisch</name></author><author><name sortKey="Ebhardt, Monika" sort="Ebhardt, Monika" uniqKey="Ebhardt M" first="Monika" last="Ebhardt">Monika Ebhardt</name></author><author><name sortKey="Cilia, Roberto" sort="Cilia, Roberto" uniqKey="Cilia R" first="Roberto" last="Cilia">Roberto Cilia</name></author><author><name sortKey="Zini, Michela" sort="Zini, Michela" uniqKey="Zini M" first="Michela" last="Zini">Michela Zini</name></author><author><name sortKey="Righini, Andrea" sort="Righini, Andrea" uniqKey="Righini A" first="Andrea" last="Righini">Andrea Righini</name></author><author><name sortKey="Cossu, Giovanni" sort="Cossu, Giovanni" uniqKey="Cossu G" first="Giovanni" last="Cossu">Giovanni Cossu</name></author><author><name sortKey="Pezzoli, Gianni" sort="Pezzoli, Gianni" uniqKey="Pezzoli G" first="Gianni" last="Pezzoli">Gianni Pezzoli</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age Factors</term><term>Brain (metabolism)</term><term>Brain (pathology)</term><term>DNA Mutational Analysis</term><term>Disease Progression</term><term>Dopamine Plasma Membrane Transport Proteins</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><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>Phosphotransferases (Alcohol Group Acceptor) (genetics)</term><term>Phosphotransferases (Alcohol Group Acceptor) (metabolism)</term><term>Point Mutation (genetics)</term><term>Radiopharmaceuticals (diagnostic use)</term><term>Radiopharmaceuticals (pharmacokinetics)</term><term>Tomography, Emission-Computed, Single-Photon</term><term>Tropanes (diagnostic use)</term><term>Tropanes (pharmacokinetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="diagnostic use" xml:lang="en"><term>Radiopharmaceuticals</term><term>Tropanes</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Phosphotransferases (Alcohol Group Acceptor)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Phosphotransferases (Alcohol Group Acceptor)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="pharmacokinetics" xml:lang="en"><term>Radiopharmaceuticals</term><term>Tropanes</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Dopamine Plasma Membrane Transport Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Nerve Degeneration</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Nerve Degeneration</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Nerve Degeneration</term><term>Point Mutation</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age Factors</term><term>DNA Mutational Analysis</term><term>Disease Progression</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Tomography, Emission-Computed, Single-Photon</term></keywords></textClass></profileDesc></teiHeader><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.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001531 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 001531 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Ncbi
|étape= Curation
|type= RBID
|clé= pubmed:16267847
|texte= Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:16267847" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |