PLA2G6 mutations and other rare causes of neurodegeneration with brain iron accumulation

Current Drug Targets

Volumn 13, Issue 9, 2012, Pages 1204-1206

  McNeill, Alisdair ^a  

^a ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

c19orf2; FA2H; NBIA; PLA2G6

Indexed keywords

ARTICLE; ATAXIA; ELECTROMYOGRAPHY; GENE MUTATION; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; MULTIPLE SCLEROSIS; MUSCLE HYPOTONIA; NERVE CONDUCTION; NEUROAXONAL DYSTROPHY; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; OXIDATIVE STRESS; PARKINSONISM; QUADRIPLEGIA;

BRAIN; GROUP VI PHOSPHOLIPASES A2; HUMANS; IRON; MUTATION; NEURODEGENERATIVE DISEASES;

EID: 84864548538     PISSN: 13894501     EISSN: 18735592     Source Type: Journal    
DOI: 10.2174/138945012802002401     Document Type: Article

References (29)

1. Gregory A, Hayflick SJ. Infantile neuroaxonal dystrophy. In: Pagon RA, Bird TD, Dolan CR, Stephens K, eds. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2008 [updated 2009].
2. Kurian MA, Morgan NV, MacPherson, et al. Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology 2008; 70: 1623-9.
3. Crompton D, Rehal PK, MacPherson L, et al. Multiplex ligationdependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis. Mol Genet Metab 2010; 100: 207-12.
4. 2+-independent phospholipase A2gamma-deficient mice. J Lipid Res 2010; 51: 3003-15.
5. Beck G, Sugiura Y, Shinzawa K, et al. Neuroaxonal dystrophy in calcium-independent phospholipase A2β deficiency results from insufficient remodeling and degeneration of mitochondrial and presynaptic membranes. J Neurosci 2011; 31: 11411-20
6. Paisán-Ruiz C, Li A, Schneider SA, et al. Widespread Lewy body and tau accumulation in childhood and adult onset dystoniaparkinsonism cases with PLA2G6 mutations. Neurobiol Ageing 2010; 33: 814-23.
7. Kruer MC, Paisán-Ruiz C, Boddaert N, et al. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol 2010; 68: 611-8.
8. Potter KA, Kern MJ, Fullbright G, et al. Central Nervous system dysfunction in a mouse model of FA2H deficiency. Glia 2011; 59: 1009-21.
9. Ramirez A, Heimbach A, Gründemann 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: 1184-91.
10. Schneider SA, Paisan-Ruiz C, Quinn NP, et al. ATP13A2 mutations cause neurodegeneration with brain iron accumulation. Mov Disord 2010; 25: 979-84.
11. Behrens MI, Brüggemann N, Chana P, et al. Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. Mov Disord 2010; 15: 1929-37.
12. 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].
13. Park JS, Mehta P, Cooper AA, 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 Mut 2011; 32: 956-64.
14. 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: 29654-62.
15. Hartig MB, uso 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: 543-5.
16. Kruer MC, Boddaert N, Schneider SA, et al. Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR AM J Neuroradiol 2012; 33(3): 407-14.
17. Gelman BB, Rodriguez-Wolf MG, Wen J, Kumar S, Campbell GR, Herzog N. Siderotic cerebebral macrophages in the acquired immunodeficiency syndrome. Arch Pathol Lab Med 1992; 116: 509-16.
18. Miskiel KA, Paley, MNJ, Wilkinson ID, et al. The measurement of R2, R2* and R2' in HIV infected patients using the prime sequence as a measure of brain iron deposition. Magn Res Imaging 1997; 15: 1113-19.
19. Ketonen L, Kieburtz K, Kazee AM, Tuite M. Putaminal iron deposition in HIV infection. J NeuroAIDS. 1996; 1: 33-40.
20. Levine SM. Iron deposits in multiple sclerosis and Alzheimer's disease brains. Brain Res 1997; 760: 298-303.
21. Hulet SW, Powers S, Connor JR. Distribution of transferrin and ferritin binding in normal and multiple sclerotic human brains. J Neurol Sci 1999; 165: 48-55.
22. Craelius W, Migdal MW, Luessenhop CP, Sugar A, Mihalakis I. Iron deposits surrounding multiple sclerosis plaques. Arch Pathol Lab Med 1982; 106: 397-9.
23. Ropele S, de Graaf W, Khalil M, et al. MRI assessment of iron deposition in multiple sclerosis. J Magn Res Imaging 2011; 34: 13-21.
24. Zivadinov R, Brown MH, Schirda CV, et al. Abnormal subcortical deep-gray matter susceptibility-weighted imaging filtered phase measurements in patients with multiple sclerosis A case-control study. Neuroimage 2012; 59(1): 331-9.
25. Zhang Y, Metz LM, Yong VW, Mitchell JR. 3T deep gray matter T2 hypointensity correlates with disability over time in stable relapsing-remitting multiple sclerosis: a 3-year pilot study. J Neurol Sci 2010; 297: 76-81.
26. Oakley AE, Collingwood JF, Dobson J, et al. Individual dopaminergic neurons show elevated iron levels in Parkinson's disease. Neurology 2007; 68: 1820-5.
27. Morris CM, Kerwin JM, Edwardson JA. Non-haem iron histochemistry of the normal and Alzheimer's disease hippocampus. Neurodegeneration 1994; 3: 267-75.
28. Schenck JF, Zimmerman EA, Li Z, et al. High field magnetic resonance imaging of brain iron in Alzheimer's disease. Top Magn Reson Imaging 2006; 17: 41-50.
29. Péran P, Cherubini A, Assogna F, et al. Magnetic resonance imaging markers of Parkinson's disease nigrostriatal signature. Brain 2010; 133: 3423-33.