title: Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings.
abstract: It has been postulated that all patients with pantothenate kinase 2 (PANK2) mutations causing pantothenate-kinase-associated neurodegeneration (PKAN) are associated with the 'eye-of-the-tiger' sign on MRI. We report a pair of siblings who presented with dystonia and who have been found to be homozygous for 104C>A, S35X mutation, confirming the diagnosis of PKAN. They do not have the typical iron deposition in the globi pallida or substantia nigra on MR imaging.
authors.affiliation: Department of Neurology, Great Ormond Street Hospital NHS Trust, Great Ormond Street, London, WC1N 3JH, UK.
authors.forename: Zarazuela
authors.initials: Z
authors.lastname: Zolkipli
authors.forename: Hisham
authors.initials: H
authors.lastname: Dahmoush
authors.forename: Dawn E
authors.initials: DE
authors.lastname: Saunders
authors.forename: W K Kling
authors.initials: WK
authors.lastname: Chong
authors.forename: Robert
authors.initials: R
authors.lastname: Surtees
mesh_terms: D002675:Child, Preschool; D004421:Dystonia / Q000235:genetics / Q000473:pathology*; D005260:Female; D005917:Globus Pallidus / Q000473:pathology*; D006801:Humans; D007501:Iron / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D035781:Siblings; D013378:Substantia Nigra / Q000473:pathology
chemical_list: D007501:Iron; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase