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Document type:
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:
Pages contribution:
417-8 
Language:
eng 
Print-ISSN:
0885-3185 
TUM Institution:
Institut für Humangenetik