MovDisordV3, Main, Merge, bibRecord, 004B82

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 : 004B83

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.

RBID : Pascal:06-0208454

Descripteurs français

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

English descriptors

KwdEn :
- Human, Nervous system diseases, Nuclear magnetic resonance imaging, Pantothenate kinase, Photon, Single photon emission tomography.

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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Links to Exploration step

Pascal:06-0208454

Le document en format XML

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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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	Movement Disorders (revue)
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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

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