Genetics of neurodegeneration with brain iron accumulation

Current Neurology and Neuroscience Reports

Volumn 11, Issue 3, 2011, Pages 254-261

  Gregory, Allison ^a   Hayflick, Susan J ^b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b Departments of Molecular and Medical Genetics   (United States)

Author keywords

Dystonia parkinsonism; Fatty acid hydroxylase associated neurodegeneration; INAD; Kufor Rakeb syndrome; NBIA; Neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation; Pantothenate kinase associated neurodegeneration; PKAN; PLAN; Woodhouse Sakati syndrome

Indexed keywords

BACLOFEN; BOTULINUM TOXIN; CERULOPLASMIN; DEFERIPRONE; LEVODOPA; PANTETHINE; TETRABENAZINE; TRIHEXYPHENIDYL; IRON; PANTOTHENATE KINASE; PHOSPHOTRANSFERASE;

ACERULOPLASMINEMIA; ADENOSINE TRIPHOSPHATASE 13A2 GENE; ARTICLE; BRAIN DEPTH STIMULATION; C2ORF37 GENE; CERULOPLASMIN GENE; CLINICAL FEATURE; DEGENERATIVE DISEASE; DISEASE ASSOCIATION; DYSTONIA; ENERGY METABOLISM; FATTY ACID 2 HYDROXYLASE GENE; FATTY ACID HYDROXYLASE ASSOCIATED NEURODEGENERATION; FERRITIN LIGHT GENE; FRIEDREICH ATAXIA; GENE; GENE DUPLICATION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; IRON METABOLISM; KUFOR RAKEB SYNDROME; MUSCLE DISEASE; NEUROAXONAL DYSTROPHY; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROFERRITINOPATHY; NEUROIMAGING; NEUROPATHOLOGY; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PANTOTHENATE KINASE 2 GENE; PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION; PARKINSONISM; PHENOTYPE; PLA2G6 GENE; SEQUENCE ANALYSIS; SPASTICITY; STATIC ENCEPHALOPATHY WITH NEURODEGENERATION IN ADULTHOOD; WOODHOUSE SAKATI SYNDROME; BRAIN; GENETICS; METABOLISM; MUTATION; PATHOLOGY; REVIEW;

BRAIN; HUMANS; IRON; MUTATION; NEURODEGENERATIVE DISEASES; PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 79961146091     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-011-0181-3     Document Type: Article

References (51)

1. Zhou B, Westaway SK, Levinson B, et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet. 2001;28(4):345-9. (Pubitemid 32702423)
2. Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 2003;348(1):33-40. (Pubitemid 36026344)
3. Egan RA, Weleber RG, Hogarth P, et al. Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). Am J Ophthalmol. 2005;140(2):267-74.
4. Aggarwal A, Schneider SA, Houlden H, et al. Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms. Mov Disord. 2010;25(10):1424-31.
5. Hayflick SJ, Penzien JM, Michl W, et al. Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome. Pediatr Neurol. 2001;25(2):166-9. (Pubitemid 32830167)
6. Baumeister FA, Auer DP, Hortnagel K, et al. The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome. Neuropediatrics. 2005;36(3):221-2. (Pubitemid 41117122)
7. McNeill A, Birchall D, Hayflick SJ. T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology. 2008;70(18):1614-9. (Pubitemid 351620317)
8. 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(2):248-56. (Pubitemid 43202477)
9. Kurian MA, Morgan NV, MacPherson L, et al. Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology. 2008;70(18):1623-9. (Pubitemid 351620319)
10. Aicardi J, Castelein P. Infantile neuroaxonal dystrophy. Brain. 1979;102(4):727-48. (Pubitemid 10205610)
11. Gregory A, Westaway SK, Holm IE, et al. Neurodegeneration associated with genetic defects in phospholipase A2. Neurology. 2008;71(18):1402-9.
12. Paisan-Ruiz C, Bhatia KP, Li A, et al. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol. 2009;65:19-23.
13. Yoshino H, Tomiyama H, Tachibana N, et al. Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism. Neurology. 2010;75(15):1356-61.
14. Engel LA, Jing Z, O'Brien DE, et al. Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. PLoS ONE. 2010;5(9):e12897.
15. Tonelli A, Romaniello R, Grasso R, et al. Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy. Clin Genet. 2010;78(5):432040.
16. Baburina I, Jackowski S. Cellular responses to excess phospholipid. J Biol Chem. 1999;274(14):9400-8.
17. Morgan NV, Westaway SK, Morton JE, et al. PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron. Nat Genet. 2006;38(7):752-4. (Pubitemid 43980594)
18. Rakheja D, Uddin N, Mitui M, et al. Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation. Pediatr Dev Pathol. 2010 (Epub ahead of print), Mar 17.
19. Fyfe JC, Al-Tamimi RA, Castellani RJ, et al.: Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia. J Comp Neurol. 2010 Sep 15, 518(18):3771-3784.
20. Kruer MC, 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(5):611-8.
21. Hama H. Fatty acid 2-Hydroxylation in mammalian sphingolipid biology. Biochim Biophys Acta. 2010;1801(4):405-14.
22. 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 (5):643-8.
23. Dick KJ, Eckhardt M, Paisan-Ruiz C, et al. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat. 2010;31(4):E1251-60.
24. Schneider SA, Paisan-Ruiz C, Quinn NP, et al. ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Mov Disord. 2010;25(8):979-84.
25. AS Najim al-Din, al-Kurdi A, Dasouki M, et al. Autosomal recessive ataxia, slow eye movements and psychomotor retardation. J Neurol Sci. 1994;124(1):61-6. (Pubitemid 24183995)
26. Williams DR, Hadeed A, al-Din AS, et al. Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. Mov Disord. 2005;20(10):1264-71. (Pubitemid 41645900)
27. Behrens MI, Bruggemann N, Chana P, et al. Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. Mov Disord. 2010;25(12):1929-37.
28. Santoro L, Breedveld Gj, Mangenelli F, et al. Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. Neurogenetics. 2010, Sep 21, (Epub ahead of print).
29. Crosiers D, Ceulemans B, Meeus B et al.: Juvenile dystoniaparkinsonism and dementia caused by a novel ATP13A2 frameshift mutation. Parkinsonism Relat Disord. (2010), doi:10.1016/j.parkreldis.2010.10.011.
30. Chien HF, Bonifati V, Barbosa ER. ATP13A2-related neurodegeneration (PARK9) without evidence of brain iron accumulation. Mov Disord. in press.
31. 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 (10):1184-91. (Pubitemid 44470365)
32. Lees AJ, Singleton AB. Clinical heterogeneity of ATP13A2 linked disease (Kufor-Rakeb) justifies a PARK designation. Neurology. 2007;68(19):1553-4. (Pubitemid 46717976)
33. Di Fonzo A, Chien HF, Socal M, et al. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. Neurology. 2007;68(19):1557-62. (Pubitemid 46717978)
34. Ning YP, Kanai K, Tomiyama H, et al. PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype. Neurology. 2008;70(16 Pt 2):1491-3. (Pubitemid 351521945)
35. Woodhouse NJ, Sakati NA. A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities. J Med Genet. 1983;20(3):216-9. (Pubitemid 13055235)
36. Al-Semari A, Bohlega S. Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1. Am J Med Genet A. 2007;143(2):149-60. (Pubitemid 46047669)
37. Alazami AM, Al-Saif A, Al-Semari A, et al. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet. 2008;83(6):684-91.
38. Miyajima H, Takahashi Y, Kono S. Aceruloplasminemia, an inherited disorder of iron metabolism. Biometals. 2003;16(1):205-13. (Pubitemid 36140230)
39. Yoshida K, Furihata K, Takeda S, et al. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet. 1995;9(3):267-72.
40. Miyajima H, Kohno S, Takahashi Y, et al. Estimation of the gene frequency of aceruloplasminemia in Japan. Neurology. 1999;53 (3):617-9. (Pubitemid 29382060)
41. Wild EJ, Mudanohwo EE, Sweeney MG, et al. Huntington's disease phenocopies are clinically and genetically heterogeneous. Mov Disord. 2008;23(5):716-20.
42. Crompton DE, Chinnery PF, Bates D, et al. Spectrum of movement disorders in neuroferritinopathy. Mov Disord. 2005;20(1):95-9. (Pubitemid 40277514)
43. Curtis AR, Fey C, Morris CM, et al. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet. 2001;28(4):350-4. (Pubitemid 32702424)
44. Kruer MC, Boddaert N, Schneider SA, et al. Neuroimaging features of Neurodegeneration with Brain Iron Accumulation (NBIA). Am J Neuroradiol. in press.
45. Hartig MB, Luso A, Hempel M, et al. Identification of a second major locus for neurodegeneration with brain iron accumulation. (abstract/program #314). Presented at the 59th Annual Meeting of The American Society of Human Genetics, October 24, 2009, Honolulu, Hawaii. Available at http://www.ashg.org/ 2009meeting/abstracts/fulltext/.
46. Albright AL, Ferson SS. Intraventricular baclofen for dystonia: techniques and outcomes. Clinical article. J Neurosurg Pediatr. 2009;3(1):11-4.
47. Castelnau P, Cif L, Valente EM, et al. Pallidal stimulation improves pantothenate kinase-associated neurodegeneration. Ann Neurol. 2005;57(5):738-41. (Pubitemid 40628863)
48. Mikati MA, Yehya A, Darwish H, et al. Deep brain stimulation as a mode of treatment of early onset pantothenate kinaseassociated neurodegeneration. Eur J Paediatr Neurol. 2009;13 (1):61-4.
49. 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(12):2255-7. (Pubitemid 46140453)
50. Boddaert N, Le Quan Sang KH, Rotig A, et al. Selective iron chelation in Friedreich ataxia: biologic and clinical implications. Blood. 2007;110(1):401-8. (Pubitemid 47026862)
51. Rana A, Seinen E, Siudeja K, et al. Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration. Proc Natl Acad Sci USA. 2010;107(15):6988-93.