PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort

Neurology

Volumn 77, Issue 1, 2011, Pages 75-81

  Shi, C H ^a   Tang, B S ^a,b,c   Wang, L ^a   Lv, Z Y ^a   Wang, J ^d   Luo, L Z ^a   Shen, L ^a,c   Jiang, H ^a,c   Yan, X X ^a,c   Pan, Q ^b   Xia, K ^b   Guo, J F ^a,c  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b National Laboratory of Medical Genetics of China   (China)

^c CENTRAL SOUTH UNIVERSITY   (China)

^d FUDAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE DERIVATIVE; ATP13A2; DJ 1 PROTEIN; DOPAMINE TRANSPORTER; FBX07 PROTEIN; GENOMIC DNA; PARKIN; PHOSPHOLIPASE A2 GROUP VI; PINK1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE EARLY ONSET PARKINSONISM; CHINA; CHINESE; DNA TEMPLATE; ENZYME ACTIVITY; EXON; EXTRAPYRAMIDAL SYMPTOM; FAMILY; GENE MUTATION; GENETIC CODE; HUMAN; IN VITRO STUDY; INTRON; MISSENSE MUTATION; PARKINSONISM; PRIORITY JOURNAL;

EID: 80051539730     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318221acd3     Document Type: Article

References (30)

1. Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998;392:605-608. (Pubitemid 28207717)
2. Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 2004;304:1158-1160. (Pubitemid 38661852)
3. Bonifati V, Rizzu P, van Baren MJ, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2003;299:256-259. (Pubitemid 36131051)
4. Ramirez A, Heimbach A, Gruendemann J, et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type AT Pase. Nat Genet 2006;38:1184-1191. (Pubitemid 44470365)
5. Di Fonzo A, Dekker MC, Montagna P, et al. FBXO7 mutations cause autosomal recessive, early-onset parkinsonianpyramidal syndrome. Neurology 2009;72:240-245.
6. Shojaee S, Sina F, Banihosseini SS, et al. Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays. Am J Hum Genet 2008;82: 1375-1384.
7. Morgan NV, Westaway SK, Morton JEV, et al. PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron. Nat Genet 2006;38: 752-754. (Pubitemid 43980594)
8. Khateeb S, Flusser H, Ofir R, et al. PLA2G6 mutation underlies infantile neuroaxonal dystrophy. Am J Hum Genet 2006;79:942-948. (Pubitemid 44763408)
9. Paisan-Ruiz C, Bhatia KP, Li A, et al. Characterization of PLA2G6 as a Locus for Dystonia-Parkinsonism. Ann Neurol 2009;65:19-23.
10. Sina F, Shojaee S, Elahi E, Paisan-Ruiz C. R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family. Eur J Neurol 2009;16: 101-104.
11. Schneider SA, Bhatia KP, Hardy J. Complicated Recessive Dystonia Parkinsonism Syndromes. Mov Disord 2009;24: 490-499.
12. Guo JF, Zhang XW, Nie LL, et al. Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism. J Neurol 2010;257: 1170-1175.
13. Luo LZ, Xu Q, Guo JF, et al. FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients. Neurosci Lett 2010;482:86-89.
14. Guo JF, Xiao B, Liao B, et al. Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset parkinsonism. Mov Disord 2008;23:2074-2079.
15. Wang L, Guo JF, Nie LL, et al. A new variant of the ATP13A2 gene in Chinese patients with early-onset parkinsonism. Chin Med J 2009;122:3082-3085.
16. Guo JF, Wang L, He D, et al. Clinical features and [(11)C]-CFT PET analysis of PARK2, PARK6, PARK7-linked autosomal recessive early onset Parkinsonism. Neurol Sci 2010;32:35-40.
17. Tang J, Kriz RW, Wolfman N, et al. A novel cytosolic calcium-independent phospholipase A2 contains eight ankyrin motifs. J Biol Chem 1997;272:8567-8575. (Pubitemid 27147822)
18. Smani T, Zakharov SI, Csutora P, et al. A novel mechanism for the store-operat XH, et al. Calciumindependent phospholipase A(2) localizes in and protects mitochondria during apoptotic induction by staurosporine. J Biol Chem 2006;281:22275-22288.
19. Jenkins CM, Mancuso DJ, Yan W, et al. Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A(2) family members possessing triacylglycerol lipase and acylglycerol transacylase activities. J Biol Chem 2004;279:48968-48975. (Pubitemid 39625778)
20. Kurian MA, Morgan NV, MacPherson L, et al. Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology 2008;70: 1623-1629. (Pubitemid 351620319)
21. Gregory A, Westaway SK, Holm IE, et al. Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology 2008;71:1402-1409.
22. Hering R, Strauss KA, Tao X, et al. Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). Hum Mutat 2004;24:321-329. (Pubitemid 39336638)
23. Wu-Chou YH, Lu CS, Chang HC, et al. PLA2G6 mutations in a Taiwanese cohort of early onset parkinsonism. Parkinsonism Relat Disord 2009;15 (suppl):S187. Abstract.
24. Klein C, Lohmann-Hedrich K, Rogaeva E, et al. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol 2007;6:652-662. (Pubitemid 46921058)
25. Ouchi Y, Yoshikawa E, Sekine Y, et al. Microglial activation and dopamine terminal loss in early Parkinson's disease. Ann Neurol 2005;57:168-175. (Pubitemid 40179853)
26. Broussolle E, Lucking CB, Ginovart N, et al. [F-18]-dopa PET study in patients with juvenile-onset PD and parkin gene mutations. Neurology 2000;55:877-879.
27. van Nuenen BFL, Weiss MM, Bloem BR, et al. Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype. Neurology 2009;72: 1041-1047.
28. Ross BM, Moszczynska A, Erlich J, et al. Low activity of key phospholipid catabolic and anabolic enzymes in human substantia nigra: possible implications for Parkinson's disease. Neuroscience 1998;83:791-798. (Pubitemid 28068899)
29. Lee LY, Ong WY, Farooqui AA, Burgunder JM. Role of calcium-independent phospholipase A(2) in cortex striatum thalamus cortex circuitry-enzyme inhibition causes vacuous chewing movements in rats. Psychopharmacology 2007;195:387-395. (Pubitemid 350160274)
30. Paisan-Ruiz C, Li A, Schneider S, et al. Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiol Aging Epub 2010 Jul 20.