Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.

@article{Valentino2006GeneticHI,
  title={Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.},
  author={Paola Valentino and Grazia Annesi and Innocenza Claudia Cir{\`o} Candiano and Ferdinanda Annesi and Donatella Civitelli and Patrizia Tarantino and Francesco Naso and Patrizia Spadafora and Sara Carrideo and Elvira Valeria De Marco and Domenico Consoli and Mario Zappia and Antonio Gambardella and Aldo Quattrone},
  journal={Movement disorders : official journal of the Movement Disorder Society},
  year={2006},
  volume={21 2},
  pages={252-4}
}
We performed a detailed molecular study in two unrelated families with pantothenate kinase-associated neurodegeneration (PKAN) and the specific magnetic resonance imaging (MRI) eye-of-the-tiger pattern. In the first family with classic PKAN, linkage analysis using polymorphic markers from the PANK2 region ruled out linkage with this locus, and no mutation of the PANK2 gene was found. In the second family with atypical PKAN, we identified a novel homozygous C-to-T transition at nucleotide 1069… CONTINUE READING
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