The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration

Neuropediatrics

Volumn 42, Issue 4, 2011, Pages 159-162

  Chiapparini, L ^a   Savoiardo, M ^a   Darrigo, S ^b   Reale, C ^c   Zorzi, G ^b   Zibordi, F ^b   Cordelli, D M ^b   Franzoni, E ^b   Garavaglia, B ^c   Nardocci, N ^b  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b IRCCS   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

brain iron accumulation; eye of the tiger sign; PKAN

Indexed keywords

PANTOTHENATE KINASE 2;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; ELECTRORETINOGRAPHY; EXON; GENETIC ANALYSIS; GLOBUS PALLIDUS; HUMAN; HUMAN TISSUE; LABORATORY TEST; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OPHTHALMOSCOPY; PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; QUADRIPLEGIA;

BRAIN; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION;

EID: 80053045912     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0031-1285925     Document Type: Article

References (18)

1. Angelini L, Nardocci N, Rumi V et al. Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life. J Neurol: 1992; 239 417 425
2. Brouwer OF, Laboyrie PM, Peters ACB et al. Follow-up magnetic resonance imaging in Hallervorden-Spatz disease. Clin Neurol Neurosurg: 1992; 94 Suppl S57 S60
3. Dooling EC, Schoene WC, Richardson EP Jr. Hallervorden-Spatz syndrome. Arch Neurol: 1974; 30 70 83
4. Gallucci M, Cardona F, Arachi M et al. Follow-up MR studies in Hallervorden-Spatz disease. J Comput Assist Tomogr: 1990; 14 118 120 (Pubitemid 20039458)
5. Gregory A, Polster BJ, Hayflick SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet: 2009; 46 73 80
6. Hartig MB, Hortnagel K, Garavaglia B et al. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol: 2006; 59 248 256 (Pubitemid 43202477)
7. Hayflick SJ, Penzien JM, Michl W et al. Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome. Pediatr Neurol: 2001; 25 166 169 (Pubitemid 32830167)
8. Hayflick S, Westaway S. Pantothenate kinase mutation without eye-of-the-tiger sign. Pediatr Radiol: 2006; 36 1329 (Pubitemid 44920877)
9. Hayflick SJ, Westaway SK, Levinson B et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med: 2003; 348 33 40 (Pubitemid 36026344)
10. Kruer MC, Hiken M, Gregory A. Novel histopathologic findings in molecularly-confirmed panthotenate kinase-associated neurodegeneration. Brain: 2011; 134 947 958
11. Kruer MC, Paisn-Ruiz C, Boddaert N et al. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol: 2010; 68 611 618
12. 2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology: 2008; 70 1614 1619 (Pubitemid 351620317)
13. Mutoh K, Okuno T, Ito M et al. MR imaging of a group I case of Hallervorden-Spatz disease. J Comput Assist Tomogr: 1988; 12 851 853
14. Savoiardo M, Halliday WC, Nardocci N et al. Hallervorden-Spatz disease: MR and pathologic findings. AJNR Am J Neuroradiol: 1993; 14 155 162 (Pubitemid 23055937)
15. Sethi KD, Adams RJ, Loring DW et al. Hallervorden-Spatz syndrome: Clinical and magnetic resonance imaging correlations. Ann Neurol: 1988; 24 692 694 (Pubitemid 18262676)
16. Zhou B, Westaway SK, Levinson B et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet: 2001; 28 345 349 (Pubitemid 32702423)
17. Zolkipli Z, Dahmoush H, Saunders DE et al. Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without eye-of-the-tiger sign on MRI in a pair of siblings. Pediatr Radiol: 2006; 36 884 886 (Pubitemid 44138289)
18. Zorzi G, Zibordi F, Chiapparini L et al. Iron-related MR images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial. Mov Disord: 2011; May 6, 10.1002/mds.23751