Syndromes of Neurodegeneration With Brain Iron Accumulation

Seminars in Pediatric Neurology

Volumn 19, Issue 2, 2012, Pages 57-66

  Schneider, Susanne A ^a   Bhatia, Kailash P ^b  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN; IRON; LEVODOPA; PANTOTHENATE KINASE 2; PANTOTHENIC ACID;

ACERULOPLASMINEMIA; ATP13A2 GENE; BRAIN DEPTH STIMULATION; BRAIN TISSUE; C19ORF12 GENE; CERULOPLASMIN GENE; CLINICAL FEATURE; DIFFUSE LEWY BODY DISEASE; DISEASE CLASSIFICATION; FA2H GENE; FATTY ACID HYDROXYLASE ASSOCIATED NEURODEGENERATION; FRACTIONAL ANISOTROPY; FTL GENE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; IRON STORAGE; KUFOR RAKEB DISEASE; MITOCHONDRIAL PROTEIN ASSOCIATED NEURODEGENERATION; MOLECULAR PATHOLOGY; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROFERRITINOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PANK2 GENE; PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION; PARKINSONISM; PATHOPHYSIOLOGY; PHOSPHOLIPASE A2 ASSOCIATED NEURODEGENERATION; PLA2G6 GENE; REVIEW; SLEEP DISORDER; STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD; TRANSCRANIAL MAGNETIC STIMULATION;

HUMANS; IRON METABOLISM DISORDERS; NEUROAXONAL DYSTROPHIES;

EID: 84862332594     PISSN: 10719091     EISSN: 15580776     Source Type: Journal    
DOI: 10.1016/j.spen.2012.03.005     Document Type: Review

References (107)

1. Gregory A., Polster B.J., Hayflick S.J. Clinical and genetic delineation of neurodegeneration with brain iron accumulation [abstract]. J Med Genet 2009, 46:73-80.
2. Hayflick S.J. Neurodegeneration with brain iron accumulation: From genes to pathogenesis. Semin Pediatr Neurol 2006, 13:182-185.
3. Hayflick S.J., Westaway S.K., Levinson B., et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003, 348:33-40.
4. Schneider S.A., Aggarwal A., Bhatt M., et al. Severe tongue protrusion dystonia: Clinical syndromes and possible treatment. Neurology 2006, 67:940-943.
5. Marelli C., Piacentini S., Garavaglia B., et al. Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration. Mov Disord 2005, 20:208-212.
6. Egan R.A., Weleber R.G., Hogarth P., et al. Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). Am J Ophthalmol 2005, 140:267-274.
7. Bozi M., Matarin M., Theocharis I., et al. A patient with pantothenate kinase-associated neurodegeneration and supranuclear gaze palsy. Clin Neurol Neurosurg 2009, 111:688-690.
8. Antonini A., Goldwurm S., Benti R., et al. Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration. Mov Disord 2006, 21:417-418.
9. Aggarwal A., Schneider S.A., Houlden H., et al. Indian-subcontinent NBIA: Unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms. Mov Disord 2010, 25:1424-1431.
10. Yoon W.T., Lee W.Y., Shin H.Y., et al. Novel PANK2 gene mutations in Korean patient with pantothenate kinase-associated neurodegeneration presenting unilateral dystonic tremor. Mov Disord 2010, 25:245-247.
11. Chung S.J., Lee J.H., Lee M.C., et al. Focal hand dystonia in a patient with PANK2 mutation. Mov Disord 2008, 23:466-468.
12. Fantini M.L., Cossu G., Molari A., et al. Sleep in genetically confirmed pantothenate kinase-associated neurodegeneration: A video-polysomnographic study. Parkinsons Dis 2010, 2010:342834.
13. Schenck J.F., Zimmerman E.A. High-field magnetic resonance imaging of brain iron: Birth of a biomarker?. NMR Biomed 2004, 17:433-445.
14. Stankiewicz J., Panter S.S., Neema M., et al. Iron in chronic brain disorders: Imaging and neurotherapeutic implications. Neurotherapeutics 2007, 4:371-386.
15. Hayflick S.J., Penzien J.M., Michl W., et al. Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome. Pediatr Neurol 2001, 25:166-169.
16. 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.
17. Delgado R.F., Sanchez P.R., 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. Schneider S.A., Hardy J., Bhatia K.P. Iron accumulation in syndromes of neurodegeneration with brain accumulation-Causative or consequential?. J Neurol Neurosurg, Psychiatry 2009, 80:589-590.
19. Awasthi R., Gupta R.K., Trivedi R., et al. Diffusion tensor MR imaging in children with pantothenate kinase-associated neurodegeneration with brain iron accumulation and their siblings. Am J Neuroradiol 2010, 31:442-447.
20. Cossu G., Cella C., Melis M., et al. [123I]FP-CIT SPECT findings in two patients with Hallervorden-Spatz disease with homozygous mutation in PANK2 gene. Neurology 2005, 64:167-168.
21. Hermann W., Barthel H., Reuter M., et al. Hallervorden-Spatz disease: findings in the nigrostriatal system [in German]. Nervenarzt 2000, 71:660-665.
22. Doi H., Koyano S., Miyatake S., et al. Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: Clinical features and (99m)Tc-ECD brain perfusion SPECT findings. J Neurol Sci 2010, 290:172-176.
23. Kostic VS, Svetel M, Mijajlovic M, et al: Transcranial sonography in pantothenate kinase-associated neurodegeneration. J Neurol (in press).
24. 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.
25. Kruer M.C., Hiken M., Gregory A., et al. Novel histopathologic findings in molecularly confirmed pantothenate kinase-associated neurodegeneration. Brain 2011, 134:947-958.
26. Saito Y., Kawai M., Inoue K., et al. Widespread expression of alpha-synuclein and tau immunoreactivity in Hallervorden-Spatz syndrome with protracted clinical course. J Neurol Sci 2000, 177:48-59.
27. Wakabayashi K., Fukushima T., Koide R., et al. Juvenile-onset generalized neuroaxonal dystrophy (Hallervorden-Spatz disease) with diffuse neurofibrillary and lewy body pathology. Acta Neuropathol 2000, 99:331-336.
28. Neumann M., Adler S., Schlüter O., et al. Alpha-synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies. Acta Neuropathol 2000, 100:568-574.
29. Galvin J.E., Giasson B., Hurtig H.I., et al. Neurodegeneration with brain iron accumulation, type 1 is characterized by alpha-, beta-, and gamma-synuclein neuropathology. Am J Pathol 2000, 157:361-368.
30. Williamson K., Sima A.A., Curry B., et al. Neuroaxonal dystrophy in young adults: A clinicopathological study of two unrelated cases. Ann Neurol 1982, 11:335-343.
31. Eidelberg D., Sotrel A., Joachim C., et al. Adult onset Hallervorden-Spatz disease with neurofibrillary pathology. A discrete clinicopathological entity. Brain 1987, 110(Pt. 4):993-1013.
32. Li A, Paudel R, Johnson R, et al: Pantothenate kinase-associated neurodegeneration is not a synucleinopathy. Neuropathol Appl Neurobiol (in press).
33. Hartig M.B., Hörtnagel 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.
34. Lin M.T., Beal M.F. Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. Nature 2006, 443:787-795.
35. Kotzbauer P.T., Truax A.C., Trojanowski J.Q., et al. Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2. J Neurosci 2005, 25:689-698.
36. Poli M., Derosas M., Luscieti S., et al. Pantothenate kinase-2 (Pank2) silencing causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation. Neurobiol Dis 2010, 39:204-210.
37. Castelnau P., Cif L., Valente E.M., et al. Pallidal stimulation improves pantothenate kinase-associated neurodegeneration. Ann Neurol 2005, 57:738-741.
38. Mikati M.A., Yehya A., Darwish H., et al. Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration. Eur J Paediatr Neurol 2009, 13:61-64.
39. Krause M., Fogel W., Tronnier V., et al. Long-term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase-associated neurodegeneration. Mov Disord 2006, 21:2255-2257.
40. Szumowski J., Bas E., Gaarder K., et al. Measurement of brain iron distribution in Hallevorden-Spatz syndrome. J Magn Reson Imaging 2010, 31:482-489.
41. Lim B.C., Ki C.S., 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.
42. Air E.L., Ostrem J.L., Sanger T.D., et al. Deep brain stimulation in children: Experience and technical pearls. J Neurosurg Pediatr 2011, 8:566-574.
43. Timmermann L., Pauls K.A., Wieland K., et al. Dystonia in neurodegeneration with brain iron accumulation: Outcome of bilateral pallidal stimulation. Brain 2010, 133:701-712.
44. Mylius V., Gerstner A., Peters M., et al. Low-frequency rTMS of the premotor cortex reduces complex movement patterns in a patient with pantothenate kinase-associated neurodegenerative disease (PKAN). Neurophysiol Clin 2009, 39:27-30.
45. Rana A., Seinen E., Siudeja K., et al. Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration. Proc Natl Acad Sci U S A 2010, 107:6988-6993.
46. Morgan N.V., Westaway S.K., Morton J.E., et al. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet 2006, 38:752-754.
47. Paisan-Ruiz C., Bhatia K.P., Li A., et al. Characterization of PLA2G6 as a locus for dystonia-Parkinsonism. Ann Neurol 2009, 65:19-23.
48. Gregory A., Polster B.J., Hayflick S.J. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet 2009, 46:73-80.
49. Paisan-Ruiz C., Li A., Schneider S.A., 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.
50. Malik I., Turk J., Mancuso D.J., et al. Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. Am J Pathol 2008, 172:406-416.
51. Adibhatla R.M., Hatcher J.F. Phospholipase A(2), reactive oxygen species, and lipid peroxidation in CNS pathologies. BMB Rep 2008, 41:560-567.
52. Adibhatla R.M., Hatcher J.F. Lipid oxidation and peroxidation in CNS health and disease: From molecular mechanisms to therapeutic opportunities. Antioxid Redox Signal 2010, 12:125-169.
53. Engel L.A., Jing Z., O'Brien D.E., et al. Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-Parkinsonism. PLoS ONE 2011, 5:e12897.
54. Vinters H., Farrell M., Mischel P., et al. Diagnostic Neuropathology 1998, 502. Marcel Dekker, New York, NY.
55. Cowen D., Olmstead E.V. Infantile neuroaxonal dystrophy. J Neuropathol Exp Neurol 1963, 22:175-236.
56. Gregory A., Westaway S.K., Holm I.E., et al. Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology 2008, 71:1402-1409.
57. Kruer M.C., Paisan-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.
58. Schneider S.A., Bhatia K.P. Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias. Ann Neurol 2010, 68:575-577.
59. Dick K.J., Eckhardt M., Paisán-Ruiz C., et al. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat 2010, 31:E1251-E1260.
60. Edvardson S., Hama H., Shaag A., et al. Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet 2008, 83:643-648.
61. 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 (in press).
62. Garone C., Pippucci T., Cordelli D.M., 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.
63. Pierson T.M., Simeonov D.R., Sincan M., et al. Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration. Eur J Hum Genet 2012, 20:476-479.
64. Bras J., Singleton A., Cookson M.R., et al. Potential role of ceramide metabolism in Lewy Body disease. Eur J Biochem (FEBS) 2008, 275:5767-5773.
65. Potter K.A., Kern M.J., Fullbright G., et al. Central nervous system dysfunction in a mouse model of Fa2h deficiency. Glia 2011, 59:1009-1021.
66. Hartig M.B., 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.
67. Najim al-Din A.S., Wriekat A., Mubaidin A., et al. Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. Acta Neurol Scand 1994, 89:347-352.
68. Ramirez A., Heimbach A., Grundemann J., et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet 2006, 38:1184-1191.
69. 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.
70. Di Fonzo A., Chien H.F., Socal M., et al. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. Neurology 2007, 68:1557-1562.
71. Eiberg H, Hansen L, Korbo L, et al: Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). Clin Genet (in press).
72. Ning Y.P., Kanai K., Tomiyama H., et al. PARK9-linked parkinsonism in eastern Asia: Mutation detection in ATP13A2 and clinical phenotype. Neurology 2008, 70:1491-1493.
73. Park J.S., Mehta P., Cooper A.A., et al. Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset Parkinsonism. Hum Mutat 2011, 32:956-964.
74. Santoro L., Breedveld G.J., Manganelli F., et al. Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. Neurogenetics 2011, 12:33-39.
75. Williams D.R., Hadeed A., al-Din A.S., et al. Kufor Rakeb disease: Autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. Mov Disord 2005, 20:1264-1271.
76. Behrens M.I., Brüggemann N., Chana P., et al. Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. Mov Disord 2010, 25:1929-1937.
77. Machner B., Sprenger A., Behrens M.I., et al. Eye movement disorders in ATP13A2 mutation carriers (PARK9). Mov Disord 2010, 25:2687-2689.
78. Schneider S.A., Paisan-Ruiz C., Quinn N.P., et al. ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Mov Disord 2010, 25:979-984.
79. Brüggemann N., Hagenah J., Reetz K., et al. Recessively inherited parkinsonism: Effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. Arch Neurol 2010, 67:1357-1363.
80. Chien H.F., Bonifati V., Barbosa E.R. ATP13A2-related neurodegeneration (PARK9) without evidence of brain iron accumulation. Mov Disord 2011, 26:1364-1365.
81. Zittel S, Kroeger J, van d, et al: Motor pathway excitability in ATP13A2 mutation carriers: A transcranial magnetic stimulation study. Parkinsonism Relat Disord (in press).
82. Ramonet D, Podhajska A, Stafa K, et al: PARK9-Associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity. Hum Mol Genet (in press).
83. Paisán-Ruiz C., Guevara R., Federoff M., et al. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord 2010, 25:1791-1800.
84. Tan J., Zhang T., Jiang L., et al. Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein. J Biol Chem 2011, 286:29654-29662.
85. Farias F.H., Zeng R., Johnson G.S., et al. A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. Neurobiol Dis 2011, 42:468-474.
86. Wohlke A., Philipp U., Bock P., et al. A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan Terrier. PLoS Genet 2011, 7:e1002304.
87. Bras J., Verloes A., Schneider S.A., et al. Mutation of the parkinsonism Gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet 2012, [Epub ahead of print].
88. Ogimoto M., Anzai K., Takenoshita H., et al. Criteria for early identification of aceruloplasminemia. Intern Med 2011, 50:1415-1418.
89. McNeill A., Pandolfo M., Kuhn J., et al. The neurological presentation of ceruloplasmin gene mutations. Eur Neurol 2008, 60:200-205.
90. 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.
91. Chinnery P.F., Crompton D.E., Birchall D., et al. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain 2007, 130:110-119.
92. Chinnery P.F. Neuroferritinopathy. GeneReviews [Internet] 1993-2005, University of Washington, Seattle, Seattle, WA. R.A. Pagon, T.D. Bird, C.R. Dolan (Eds.).
93. Chinnery P.F., Curtis A.R., Fey C., et al. Neuroferritinopathy in a French family with late onset dominant dystonia. J Med Genet 2003, 40:e69.
94. Kubota A., Hida A., Ichikawa Y., et al. A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: Description of clinical features and implications for genotype-phenotype correlations. Mov Disord 2008, 24:441-445.
95. * and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology 2008, 70:1614-1619.
96. Hautot D., Pankhurst Q.A., Morris C.M., et al. Preliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patients. Biochim Biophys Acta 2007, 1772:21-25.
97. Mancuso M., Davidzon G., Kurlan R.M., et al. Hereditary ferritinopathy: A novel mutation, its cellular pathology, and pathogenetic insights. J Neuropathol Exp Neurol 2005, 64:280-294.
98. Deng X., Vidal R., Englander E.W. Accumulation of oxidative DNA damage in brain mitochondria in mouse model of hereditary ferritinopathy. Neurosci Lett 2010, 479:44-48.
99. Brueggemann N., Wuerfel J.T., Petersen D., et al. Idiopathic NBIA-Clinical spectrum and transcranial sonography findings. Eur J Neurol 2011, 18:e58-e59.
100. Waldvogel D., van G.P., Hallett M. Increased iron in the dentate nucleus of patients with Friedrich's ataxia. Ann Neurol 1999, 46:123-125.
101. Levy M., Turtzo C., Llinas R.H. Superficial siderosis: A case report and review of the literature. Nat Clin Pract Neurol 2007, 3:54-58.
102. Chang M.H., Hung W.L., Liao Y.C., et al. Eye of the tiger-like MRI in parkinsonian variant of multiple system atrophy. J Neural Transm 2009, 116:861-866.
103. Davie C.A., Barker G.J., Machado C., et al. Proton magnetic resonance spectroscopy in Steele-Richardson-Olszewski syndrome. Mov Disord 1997, 12:767-771.
104. Molinuevo J.L., Muñoz E., Valldeoriola F., et al. The eye of the tiger sign in cortical-basal ganglionic degeneration. Mov Disord 1999, 14:169-171.
105. Santillo A.F., Skoglund L., Lindau M., et al. Frontotemporal dementia-amyotrophic lateral sclerosis complex is simulated by neurodegeneration with brain iron accumulation. Alzheimer Dis Assoc Disord 2009, 23:298-300.
106. 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 (in press).
107. Abbruzzese G., Cossu G., Balocco M., et al. A pilot trial of deferiprone for neurodegeneration with brain iron accumulation. Haematologica 2011, 96:1708-1711.