title: Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration.
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.
authors.affiliation: Parkinson Institute and Neuroradiology, Istituti Clinici di Perfezionamento, Milan, Italy. angelo3000@yahoo.com
authors.forename: Angelo
authors.initials: A
authors.lastname: Antonini
authors.forename: Stefano
authors.initials: S
authors.lastname: Goldwurm
authors.forename: Riccardo
authors.initials: R
authors.lastname: Benti
authors.forename: Holger
authors.initials: H
authors.lastname: Prokisch
authors.forename: Monika
authors.initials: M
authors.lastname: Ebhardt
authors.forename: Roberto
authors.initials: R
authors.lastname: Cilia
authors.forename: Michela
authors.initials: M
authors.lastname: Zini
authors.forename: Andrea
authors.initials: A
authors.lastname: Righini
authors.forename: Giovanni
authors.initials: G
authors.lastname: Cossu
authors.forename: Gianni
authors.initials: G
authors.lastname: Pezzoli
mesh_terms: D000367:Age Factors; D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D050483:Dopamine Plasma Membrane Transport Proteins; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009410:Nerve Degeneration / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics* / Q000378:metabolism*; D017354:Point Mutation / Q000235:genetics; D019275:Radiopharmaceuticals / Q000493:pharmacokinetics; D015899:Tomography, Emission-Computed, Single-Photon; D014326:Tropanes / Q000493:pharmacokinetics
chemical_list: D050483:Dopamine Plasma Membrane Transport Proteins; D019275:Radiopharmaceuticals; D014326:Tropanes; C087210:N-(3-iodopropen-1-yl)-2-carbomethoxy-3-(4-chlorophenyl)tropane; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase