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

Angelo Antonini; Stefano Goldwurm; Riccardo Benti; Holger Prokisch; Monika Ebhardt; Roberto Cilia; Michela Zini; Andrea Righini; Giovanni Cossu; Gianni Pezzoli

doi:10.1002/mds.20774

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

Angelo Antonini, Stefano Goldwurm, Riccardo Benti, Holger Prokisch, Monika Ebhardt, Roberto Cilia, Michela Zini, Andrea Righini, Giovanni Cossu, Gianni Pezzoli

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	417-418
Number of pages	2
Journal	Movement Disorders
Volume	21
Issue number	3
DOIs	https://doi.org/10.1002/mds.20774
Publication status	Published - Mar 2006

Keywords

DatSCAN/SPECT
Genetic
MRI
PKAN

ASJC Scopus subject areas

Clinical Neurology
Neuroscience(all)

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10.1002/mds.20774

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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.",

keywords = "DatSCAN/SPECT, Genetic, MRI, PKAN",

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AU - Antonini, Angelo

AU - Goldwurm, Stefano

AU - Benti, Riccardo

AU - Prokisch, Holger

AU - Ebhardt, Monika

AU - Cilia, Roberto

AU - Zini, Michela

AU - Righini, Andrea

AU - Cossu, Giovanni

AU - Pezzoli, Gianni

PY - 2006/3

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AB - 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.

KW - DatSCAN/SPECT

KW - Genetic

KW - MRI

KW - PKAN

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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