Neurodegeneration with brain iron accumulation

Current Opinion in Neurology

Volumn 25, Issue 4, 2012, Pages 499-506

  Dusek, Petr ^a   Schneider, Susanne A ^b  

^a CHARLES UNIVERSITY   (Czech Republic)

^b UNIVERSITY OF LÜBECK   (Germany)

Author keywords

Chelating agents; Dystonia; Iron; NBIA; Neurodegeneration

Indexed keywords

CERAMIDE; DEFERASIROX; DEFERIPRONE; DEFEROXAMINE; MITOCHONDRIAL PROTEIN; MYELIN;

ACERULOPLASMINEMIA; DIFFERENTIAL DIAGNOSIS; FATTY ACID 2 HYDROXYLASE GENE; GENE; GENE MUTATION; HUMAN; IRON METABOLISM; IRON METABOLISM DISORDER; LEUKODYSTROPHY; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION; PHENOTYPE; PHOSPHOLIPID METABOLISM; REVIEW;

BRAIN; DIAGNOSIS, DIFFERENTIAL; HUMANS; IRON; IRON CHELATING AGENTS; MITOCHONDRIAL PROTEINS; MUTATION; NEURODEGENERATIVE DISEASES;

EID: 84863725376     PISSN: 13507540     EISSN: 14736551     Source Type: Journal    
DOI: 10.1097/WCO.0b013e3283550cac     Document Type: Review

References (46)

1. Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord 2012; 27:42-53.
2. Kurian MA, McNeill A, Lin JP, Maher ER. Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). Dev Med Child Neurol 2011; 53:394-404.
3. Schipper HM. Neurodegeneration with brain iron accumulation-clinical syndromes and neuroimaging. Biochim Biophys Acta 2012; 1822:350-360.
4. Kruer MC, Boddaert N, Schneider SA, et al. Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol 2012; 33:407-414.
5. Gregory A, Hayflick SJ. Genetics of neurodegeneration with brain iron accumulation. Curr Neurol Neurosci Rep 2011; 11:254-261.
6. Dusek P, Jankovic J, Le W. Iron dysregulation in movement disorders. Neurobiol Dis 2012; 46:1-18.
7. Crichton RR, Dexter DT, Ward RJ. Brain iron metabolism and its perturbation in neurological diseases. J Neural Transm 2011; 118:301-314.
8. Keogh MJ, Jonas P, Coulthard A, et al. Neuroferritinopathy: a new inborn error of iron metabolism. Neurogenetics 2012; 13:93-96.
9. Kaneko K, Hineno A, Yoshida K, et al. Extensive brain pathology in a patient with aceruloplasminemia with a prolonged duration of illness. Hum Pathol 2012; 43:451-456.
10. Wolkow N, Song Y, Wu TD, et al. Aceruloplasminemia: retinal histopathologic manifestations and iron-mediated melanosome degradation. Arch Ophthalmol 2011; 129:1466-1474.
11. Ogimoto M, Anzai K, Takenoshita H, et al. Criteria for early identification of aceruloplasminemia. Intern Med 2011; 50:1415-1418.
12. Assami S, Azzedine H, Nouioua S, et al. Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations. Mov Disord 2011; 26:1777-1779.
13. Kruer MC, Hiken M, Gregory A, et al. Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration. Brain 2011; 134 (Pt 4):947-958.
14. Fermin-Delgado R, Roa-Sanchez P, Speckter H, et al. Involvement of globus pallidus and midbrain nuclei in pantothenate kinase-associated neurodegeneration: measurement of T2 and T2time. Clin Neuroradiol 2012. [Epub ahead of print]
15. Chiapparini L, Savoiardo M, D'Arrigo S, et al. The 'eye-of-the-tiger' sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration. Neuropediatrics 2011; 42:159-162.
16. Rossi D, De Grandis E, Barzaghi C, et al. Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation. Brain Dev 2012; 34:536-538.
17. Delgado RF, Sanchez PR, Speckter H, et al. Missense PANK2 mutation without 'Eye of the tiger' sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN). J Magn Reson Imaging 2012; 35:788-794.
18. Leoni V, Strittmatter L, Zorzi G, et al. Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations. Mol Genet Metab 2012; 105:463-471.
19. Pauls KA, Timmermann L. Deep brain stimulation in pantothenate kinase associated neurodegeneration: challenges for the future. Eur J Neurol 2012; 19:533-534.
20. Lim BC, Ki CS, Cho A, et al. Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation. Eur J Neurol 2012; 19:556-561.
21. Mahoney R, Selway R, Lin JP. Cognitive functioning in children with pantothenate-kinase-associated neurodegeneration undergoing deep brain stimulation. Dev Med Child Neurol 2011; 53:275-279.
22. Grandas F, Fernandez-Carballal C, Guzman-de-Villoria J, Ampuero I. Treatment of a dystonic storm with pallidal stimulation in a patient with PANK2 mutation. Mov Disord 2011; 26:921-922.
23. Adamovicova M, Jech R, Urgosik D, et al. Pallidal stimulation in siblings with pantothenate kinase-associated neurodegeneration: four-year follow-up. Mov Disord 2011; 26:184-187.
24. Bower MA, Bushara K, Dempsey MA, et al. Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN). Mov Disord 2011; 26:1768-1769.
25. Shi CH, Tang BS, Wang L, et al. PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort. Neurology 2011; 77:75-81.
26. Paisan-Ruiz C, Li A, Schneider SA, et al. Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiol Aging 2012; 33:814-823.
27. Garone C, Pippucci T, Cordelli DM, et al. FA2H-related disorders: a novel c.270 +3A>T splice-site mutation leads to a complex neurodegenerative phenotype. Dev Med Child Neurol 2011; 53:958-961.
28. Kurz T, Eaton JW, Brunk UT. The role of lysosomes in iron metabolism and recycling. Int J Biochem Cell Biol 2011; 43:1686-1697.
29. Wakabayashi K, Gustafson AM, Sidransky E, Goldin E. Mucolipidosis type IV: an update. Mol Genet Metab 2011; 104:206-213.
30. De Grandis E, Di Rocco M, Pessagno A, et al. MR imaging findings in 2 cases of late infantile GM1 gangliosidosis. AJNR Am J Neuroradiol 2009; 30:1325-1327.
31. Steenweg ME, Vanderver A, Blaser S, et al. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain 2010; 133:2971-2982.
32. Schneider SA, Paisan-Ruiz C, Quinn NP, et al. ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Mov Disord 2010; 25:979-984.
33. Santoro L, Breedveld GJ, Manganelli F, et al. Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. Neurogenetics 2011; 12:33-39.
34. Chien HF, Bonifati V, Barbosa ER. ATP13A2-related neurodegeneration (PARK9) without evidence of brain iron accumulation. Mov Disord 2011; 26:1364-1365.
35. Fong CY, Rolfs A, Schwarzbraun T, et al. Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation. Eur J Paediatr Neurol 2011; 15:271-275.
36. Eiberg H, Hansen L, Korbo L, et al. Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). Clin Genet 2011. [Epub ahead of print]
37. Crosiers D, Ceulemans B, Meeus B, et al. Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation. Parkinsonism Relat Disord 2011; 17:135-138.
38. Bruggemann N, Wuerfel J, Petersen D, et al. Idiopathic NBIA-clinical spectrum and transcranial sonography findings. Eur J Neurol 2011; 18:e58-e59.
39. Hartig MB, Iuso A, Haack T, et al. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Hum Genet 2011; 89:543-550.
40. Liman J, Wellmer A, Rostasy K, et al. Transcranial ultrasound in neurodegeneration with brain iron accumulation (NBIA). Eur J Paediatr Neurol 2012; 16:175-178.
41. Kostic VS, Svetel M, Mijajlovic M, et al. Transcranial sonography in pantothenate kinase-associated neurodegeneration. J Neurol 2011. [Epub ahead of print]
42. Li X, Jankovic J, Le W. Iron chelation and neuroprotection in neurodegenerative diseases. J Neural Transm 2011; 118:473-477.
43. Pan PL, Tang HH, Chen Q, et al. Desferrioxamine treatment of aceruloplasminemia: long-term follow-up. Mov Disord 2011; 26:2142-2144.
44. Kwiatkowski A, Ryckewaert G, Jissendi Tchofo P, et al. Long-term improvement under deferiprone in a case of neurodegeneration with brain iron accumulation. Parkinsonism Relat Disord 2012; 18:110-112.
45. Abbruzzese G, Cossu G, Balocco M, et al. A pilot trial of deferiprone for neurodegeneration with brain iron accumulation. Haematologica 2011; 96:1708-1711.
46. Zorzi G, Zibordi F, Chiapparini L, et al. Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial. Mov Disord 2011; 26:1756-1759.