title: Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN).
abstract: OBJECTIVE
  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).
  
  
  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 showed the typical signal reduction within the globus pallidus and the substantia nigra. A surprising finding was the absence of the bright spot ("tiger's eye") in the medial part of the pallidum in 6 patients, but not in the preclinical case. Both fractional anisotropy (FA) and mean diffusivity (MD) were increased with high significance in the globus pallidus, whereas a reduction of FA in the anterior parts of the internal capsule was accompanied by an elevation of MD.
  
  
  CONCLUSIONS
  Our findings support the hypothesis that the absence of the "tiger's eye" in PKAN might be secondary, probably caused by an increased accumulation of iron. This could artificially increase FA and MD values and change fiber tracking results. Except for the fronto-basal tracts, white matter was preserved well. This encouraging finding might support efforts to develop further therapeutic strategies in this devastating dystonia.
authors: CEDIMAT, Santo Domingo, Dominican Republic.
authors: Rafael Fermin
authors: RF
authors: Delgado
authors: Pedro Roa
authors: PR
authors: Sanchez
authors: Herwin
authors: H
authors: Speckter
authors: Eddy Perez
authors: EP
authors: Then
authors: Ramney
authors: R
authors: Jimenez
authors: Jairo
authors: J
authors: Oviedo
authors: Paulo R
authors: PR
authors: Dellani
authors: Bernd
authors: B
authors: Foerster
authors: Peter
authors: P
authors: Stoeter
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology*; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics* / Q000473:pathology*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D055815:Young Adult
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase