A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration |
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| Authors: | E.A. Pé rez-Gonzá lez,O.F. Chacó n-Camacho,J. Arteaga-Vá zquez,J.C. Zenteno,O.M. Mutchinick |
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| Affiliation: | 1. Departamento de Genética, Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán”, México, D.F., Mexico;2. Unidad de Investigación, Instituto de Oftalmología Conde de Valenciana y Departamento de Bioquímica, Facultad de Medicina, UNAM, Mexico |
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| Abstract: | Pantothenate kinase-associated neurodegeneration (PKAN) disease is an autosomal recessive neurodegenerative disorder with iron storage in the brain due to PANK2 gene mutations. Brain magnetic resonance imaging (MRI) shows the typical “eye-of-the-tiger” sign. The aim of the present study was to describe clinical, MRI and molecular findings in a 26-year-old male with atypical PKAN disease in whom, brain MRI scans showed bilateral pallidal T2-hypointensity with a small central region of T2-hyperintensity, resembling the “eye-of-the-tiger” typical image. Genetic analysis identified two mutations in PANK2: c.1561G>A and c.1663G>A, being the latter never described before. Due to limited phenotype–genotype correlation among patients with movement disorders, if “eye-of-the-tiger” brain MRI is present, PANK2 mutations investigation are needed to confirm PKAN disease. |
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| Keywords: | PANK2 new mutation Atypical PKAN disease |
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