Article
Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN).
Journal of magnetic resonance imaging : JMRI - 1 Apr 2012
Delgado Rafael Fermin, Sanchez Pedro Roa, Speckter Herwin, Then Eddy Perez, Jimenez Ramney, Oviedo Jairo, Dellani Paulo R, Foerster Bernd, Stoeter Peter
Abstract excerpt
PURPOSE: To present some unusual MR findings in a group of patients from the south-west of the Dominican Republic suffering from Pantothenate Kinase Associated Neurodegeneration (PKAN). MATERIALS AND METHODS: Twenty patients and one preclinical case homozygous for the PANK2 mutation, 13 heterozygous gene carriers and 14 healthy volunteers were scanned prospectively using a 3 Tesla system. RESULTS: All patients...
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