Genetic, clinical, and imaging characterization of one patient with late- onset, slowly progressive, pantothenate kinase-associated neurodegeneration
Identifieur interne : 004B82 ( Main/Merge ); précédent : 004B81; suivant : 004B83Genetic, 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.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
Abstract
We report on a patieni 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.
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<series><title level="j" type="main">Movement disorders</title>
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<term>Pantothenate kinase</term>
<term>Tomoscintigraphie émission monophotonique</term>
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<front><div type="abstract" xml:lang="en">We report on a patieni 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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