MovDisordV3, Main, Exploration, bibRecord, 003423

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 : 003424

Genetic, 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.

RBID : ISTEX:7ACFFDA7B9467695D2A65C390D02DCEA2BE9FE4B

Descripteurs français

Pascal (Inist)
- Homme, Imagerie RMN, Pantothenate kinase, Photon, Système nerveux pathologie, Tomoscintigraphie émission monophotonique.
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:

https://api.istex.fr/document/7ACFFDA7B9467695D2A65C390D02DCEA2BE9FE4B/fulltext/pdf

DOI: 10.1002/mds.20774

Affiliations:

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>
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<term>Phosphotransferases (Alcohol Group Acceptor) (metabolism)</term>
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<term>Point Mutation (genetics)</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>
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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>
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<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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Movement Disorders (revue)

Genetic, clinical, and imaging characterization of one patient with late‐onset, slowly progressive, pantothenate kinase‐associated neurodegeneration

Genetic, clinical, and imaging characterization of one patient with late‐onset, slowly progressive, pantothenate kinase‐associated neurodegeneration

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.