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
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pubmed:16267847Le document en format XML
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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.</div>
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