Article
Progressive dystonia in a 12-year-old boy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2003
Klepper Jörg, Schaper Jörg, Raca Gordana, Coryell Jason, Das Soma, Hayflick Susan J, Voit Thomas
Abstract excerpt
Pantothenate kinase-associated neurodegeneration (PKAN) (MIM 234200; Hallervorden-Spatz syndrome) is a degenerative, autosomal recessive disorder in childhood, currently without specific treatment. In contrast to variable clinical features, T2-weighted magnetic resonance images show a characteristic 'eye-of-the-tiger sign' in the globus pallidus due to excess iron deposition. Recently a defect in pantothenate...
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