Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: Results of a phase II pilot trial

Movement Disorders

Volumn 26, Issue 9, 2011, Pages 1755-1759

  Zorzi, Giovanna ^a   Zibordi, Federica ^a   Chiapparini, Luisa ^a   Bertini, Enrico ^b   Russo, Lidia ^b   Piga, Antonio ^c   Longo, Filomena ^c   Garavaglia, Barbara ^a   Aquino, Domenico ^a   Savoiardo, Mario ^a   Solari, Alessandra ^a   Nardocci, Nardo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

Author keywords

Neurodegeneration with brain iron accumulation; pantothenate kinase associated neurodegeneration; deferiprone; magnetic resonance imaging; iron

Indexed keywords

DEFERIPRONE; IRON; PANTOTHENATE KINASE; IRON CHELATING AGENT; PHOSPHOTRANSFERASE; PYRIDONE DERIVATIVE;

ADOLESCENT; ADULT; AGRANULOCYTOSIS; ARTICLE; BURKE FAHN AND MARSDEN DYSTONIA RATING SCALE; CHELATION; CHILD; CLINICAL ARTICLE; DRUG EFFICACY; FEMALE; GLOBUS PALLIDUS; HUMAN; IRON OVERLOAD; MALE; MULTICENTER STUDY; NAUSEA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SCANNER; PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION; PHASE 2 CLINICAL TRIAL; PILOT STUDY; PRIORITY JOURNAL; QUALITY OF LIFE; RATING SCALE; STOMACH PAIN; THROMBOCYTOPENIA; TREATMENT OUTCOME; CLINICAL TRIAL; DEGENERATIVE DISEASE; DOSE RESPONSE; DRUG EFFECT; GENETICS; HOSPITALIZATION; METABOLISM; MUTATION; PATHOLOGY;

ADOLESCENT; ADULT; CHILD; DOSE-RESPONSE RELATIONSHIP, DRUG; FEMALE; GLOBUS PALLIDUS; HUMANS; IRON; IRON CHELATING AGENTS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEURODEGENERATIVE DISEASES; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); PILOT PROJECTS; PYRIDONES; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 79961210514     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23751     Document Type: Article

References (22)

1. 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.
2. 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.
3. Sethi KD, Adams RJ, Loring DW, el Gammal T. Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations. Ann Neurol. 1988; 24: 692-694.
4. Angelini L, Nardocci N, Rumi V, Zorzi C, Strada L, Savoiardo M. Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life. J Neurol. 1992; 239: 417-425.
5. Whitnall M, Richardson DR. Iron: a new target for pharmacological intervention in neurodegenerative diseases. Semin Pediatr Neurol. 2006; 13: 186-197.
6. Boddaert N, Le Quan Sang KH, Rotig A, et al. Selective iron chelation in Friedreich ataxia: Biologic and clinical implications. Blood. 2007; 110: 401-408.
7. Forni GL, Balocco M, Cremonesi L, Abbruzzese G, Parodi RC, Marchese R. Regression of symptoms after selective iron chelation therapy in a case of neurodegeneration with brain iron accumulation. Mov Disord. 2008; 23: 904-907.
8. Kontoghiorghes GJ, Aldouri MA, Sheppard L, Hoffbrand AV. 1, 2-Dimethyl-3-hydroxypyrid-4-one, an orally active chelator for treatment of iron overload. Lancet. 1987; 1: 1294-1295.
9. Burke RE, Fahn S, Marsden CD, Bressman SB, Moskowitz C, Friedman J. Validity and reliability of a rating scale for the primary torsion dystonias. Neurology. 1985; 35: 73-77.
10. Comella CL, Leurgans S, Wuu J, Stebbins GT, Chmura T, Dystonia Study Group. Rating scales for dystonia: A multicenter assessment. Mov Disord. 2003; 18: 303-312.
11. Ware JE, Jr, Sherbourne CD. The MOS 36-item short-form health survey (SF-36). I. conceptual framework and item selection. Med Care. 1992; 30: 473-483.
12. Apolone G, Mosconi P. The italian SF-36 health survey: Translation, validation and norming. J Clin Epidemiol. 1998; 51: 1025-1036.
13. Aquino D, Bizzi A, Grisoli M, et al. Age-related iron deposition in the basal ganglia: Quantitative analysis in healthy subjects. Radiology. 2009; 252: 165-172.
14. Schneider SA, Hardy J, Bhatia KP. Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential? J Neurol Neurosurg Psychiatry. 2009; 80: 589-590.
15. Stankiewicz J, Panter SS, Neema M, Arora A, Batt CE, Bakshi R. Iron in chronic brain disorders: Imaging and neurotherapeutic implications. Neurotherapeutics. 2007; 4: 371-386.
16. Benarroch EE. Brain iron homeostasis and neurodegenerative disease. Neurology. 2009; 72: 1436-1440.
17. Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 2001; 28: 345-349.
18. Perry TL, Norman MG, Yong VW, et al. Hallervorden-Spatz disease: cysteine accumulation and cysteine dioxygenase deficiency in the globus pallidus. Ann Neurol. 1985; 18: 482-489.
19. Yoon SJ, Koh YH, Floyd RA, Park JW. Copper, zinc superoxide dismutase enhances DNA damage and mutagenicity induced by cysteine/iron. Mutat Res. 2000; 448: 97-104.
20. Ke Y, Ming Qian Z. Iron misregulation in the brain: a primary cause of neurodegenerative disorders. Lancet Neurol. 2003; 2: 246-253.
21. Ceci A, Baiardi P, Felisi M, et al. The safety and effectiveness of deferiprone in a large-scale, 3-year study in italian patients. Br J Haematol. 2002; 118: 330-336.
22. Cohen AR, Galanello R, Piga A, De Sanctis V, Tricta F. Safety and effectiveness of long-term therapy with the oral iron chelator deferiprone. Blood. 2003; 102: 1583-1587.