title: Pantothenate kinase 2 mutation with eye-of-the-tiger sign on magnetic resonance imaging in three siblings.
abstract: BACKGROUND
  Pantothenate kinase associated neurodegeneration (PKAN) is the most prevalent type of neurodegeneration with brain iron accumulation (NBIA) disorders characterized by extrapyramidal signs, and 'eye-of-the-tiger' on T2 brain magnetic resonance imaging (MRI) characterized by hypointensity in globus pallidus and a hyperintensity in its core. All PKAN patients have homozygous or compound heterozygous mutation in PANK2 gene.
  
  
  METHODS
  Three sibling patients were diagnosed based on clinical presentations especially extrapyramidal signs and brain MRI. The exons and flanking intronic sequences of PANK2 were sequenced from DNA of leukocytes of the affected individuals.
  
  
  RESULTS
  All patients were homozygous for c.C1069T, p.R357W in PANK2 gene. This mutation is well conserved in the homologous protein of distally related spices.
  
  
  CONCLUSIONS
  In the current study we identified three siblings affected with PKAN, all of them have mutations in PANK2 gene. In MRI of all patients with PANK2 mutation eye-of-the-tiger sign was apparent.
authors.affiliation: School of Biology, College of Science, University of Tehran, Tehran, Iran.
authors.forename: Mitra Ansari
authors.initials: MA
authors.lastname: Dezfouli
authors.forename: Elham
authors.initials: E
authors.lastname: Jaberi
authors.forename: Afagh
authors.initials: A
authors.lastname: Alavi
authors.forename: Mohammad
authors.initials: M
authors.lastname: Rezvani
authors.forename: Gholamali
authors.initials: G
authors.lastname: Shahidi
authors.forename: Elahe
authors.initials: E
authors.lastname: Elahi
authors.forename: Mohammad
authors.initials: M
authors.lastname: Rohani
keywords: Brain Iron Accumulation; Eye-of-the-Tiger sign; Neurodegeneration; PANK2 gene; Pantothenate Kinase Associated Neurodegeneration