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

Document type:: Case Reports; Journal Article
Author(s):: Antonini, A; Goldwurm, S; Benti, R; Prokisch, H; Ebhardt, M; Cilia, R; Zini, M; Righini, A; Cossu, G; Pezzoli, G
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.
Journal title abbreviation:: Mov Disord
Year:: 2006
Journal volume:: 21
Journal issue:: 3
Pages contribution:: 417-8
Language:: eng
Fulltext / DOI:: doi:10.1002/mds.20774
Pubmed ID:: http://view.ncbi.nlm.nih.gov/pubmed/16267847
Print-ISSN:: 0885-3185
TUM Institution:: Institut für Humangenetik
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