Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings

Pediatric Radiology

Volumn 36, Issue 8, 2006, Pages 884-886

  Zolkipli, Zarazuela ^a   Dahmoush, Hisham ^a   Saunders, Dawn E ^a   Chong, W K Kling ^a   Surtees, Robert ^a  

^a Great Ormond Street Hospital NHS Trust ^*  (United Kingdom)

Author keywords

'Eye of the tiger' sign; Children; Dystonia; MRI; PANK2 mutation; Pantothenate kinase associated neurodegeneration

Indexed keywords

CHLORAL HYDRATE; CLOBAZAM; IRON; MORPHINE; OXYGEN; PANTOTHENATE KINASE; PANTOTHENATE KINASE 2; TETRABENAZINE; TRIHEXYPHENIDYL; UNCLASSIFIED DRUG;

ACANTHOCYTOSIS; ARTICLE; CASE REPORT; CLASSIC PANTOTHENATE KINASE ASSOCIATED NERVE DEGENERATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DRUG EFFICACY; DYSTONIA; FEMALE; GENE MUTATION; GLOBUS PALLIDUS; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; IMAGE ANALYSIS; IRON RESTRICTION; IRON STORAGE; MALE; NERVE DEGENERATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOSCOPY; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SIBLING; SUBSTANTIA NIGRA;

CHILD, PRESCHOOL; DYSTONIA; FEMALE; GLOBUS PALLIDUS; HUMANS; IRON; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SIBLINGS; SUBSTANTIA NIGRA;

EID: 33746510946     PISSN: 03010449     EISSN: 14321998     Source Type: Journal    
DOI: 10.1007/s00247-006-0205-3     Document Type: Article

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