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

Dokumenttyp:: Case Reports; Journal Article
Autor(en):: Antonini, A; Goldwurm, S; Benti, R; Prokisch, H; Ebhardt, M; Cilia, R; Zini, M; Righini, A; Cossu, G; Pezzoli, G
Titel:: 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.
Zeitschriftentitel:: Mov Disord
Jahr:: 2006
Band / Volume:: 21
Heft / Issue:: 3
Seitenangaben Beitrag:: 417-8
Sprache:: eng
Volltext / DOI:: doi:10.1002/mds.20774
PubMed:: http://view.ncbi.nlm.nih.gov/pubmed/16267847
Print-ISSN:: 0885-3185
TUM Einrichtung:: Institut für Humangenetik
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