메뉴 건너뛰기




Volumn 28, Issue 1, 2013, Pages 14-23

The genetics of Parkinson's disease: Progress and therapeutic implications

Author keywords

Genetics; Parkinson s disease; Therapeutics

Indexed keywords

ALPHA SYNUCLEIN; DYNACTIN; GLUCOSYLCERAMIDASE; LEUCINE RICH REPEAT KINASE 2; PARKIN;

EID: 84873453232     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25249     Document Type: Review
Times cited : (303)

References (82)
  • 1
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
    • Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-2047.
    • (1997) Science , vol.276 , pp. 2045-2047
    • Polymeropoulos, M.H.1    Lavedan, C.2    Leroy, E.3
  • 2
    • 84856024666 scopus 로고    scopus 로고
    • A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci
    • Singleton A, Hardy J. A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci. Hum Mol Genet 2011;20:R158-R162.
    • (2011) Hum Mol Genet , vol.20
    • Singleton, A.1    Hardy, J.2
  • 3
    • 58449106639 scopus 로고    scopus 로고
    • Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms
    • Ibanez P, Lesage S, Janin S, et al. Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. Arch Neurol 2009;66:102-108.
    • (2009) Arch Neurol , vol.66 , pp. 102-108
    • Ibanez, P.1    Lesage, S.2    Janin, S.3
  • 4
    • 10744230149 scopus 로고    scopus 로고
    • The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia
    • Zarranz JJ, Alegre J, Gomez-Esteban JC, et al. The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. Ann Neurol 2004;55:164-173.
    • (2004) Ann Neurol , vol.55 , pp. 164-173
    • Zarranz, J.J.1    Alegre, J.2    Gomez-Esteban, J.C.3
  • 5
    • 77951714620 scopus 로고    scopus 로고
    • First appraisal of brain pathology owing to A30P mutant alpha-synuclein
    • Seidel K, Schols L, Nuber S, et al. First appraisal of brain pathology owing to A30P mutant alpha-synuclein. Ann Neurol 2010;67:684-689.
    • (2010) Ann Neurol , vol.67 , pp. 684-689
    • Seidel, K.1    Schols, L.2    Nuber, S.3
  • 6
    • 46749144187 scopus 로고    scopus 로고
    • Genomic investigation of alpha-synuclein multiplication and parkinsonism
    • Ross OA, Braithwaite AT, Skipper LM, et al. Genomic investigation of alpha-synuclein multiplication and parkinsonism. Ann Neurol 2008;63:743-750.
    • (2008) Ann Neurol , vol.63 , pp. 743-750
    • Ross, O.A.1    Braithwaite, A.T.2    Skipper, L.M.3
  • 7
    • 37849012348 scopus 로고    scopus 로고
    • alpha-Synuclein gene duplication is present in sporadic Parkinson disease
    • Ahn TB, Kim SY, Kim JY, et al. alpha-Synuclein gene duplication is present in sporadic Parkinson disease. Neurology 2008;70:43-49.
    • (2008) Neurology , vol.70 , pp. 43-49
    • Ahn, T.B.1    Kim, S.Y.2    Kim, J.Y.3
  • 8
    • 8844266996 scopus 로고    scopus 로고
    • Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
    • Paisan-Ruiz C, Jain S, Evans EW, et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 2004;44:595-600.
    • (2004) Neuron , vol.44 , pp. 595-600
    • Paisan-Ruiz, C.1    Jain, S.2    Evans, E.W.3
  • 9
    • 8844233579 scopus 로고    scopus 로고
    • Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
    • Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 2004;44:601-607.
    • (2004) Neuron , vol.44 , pp. 601-607
    • Zimprich, A.1    Biskup, S.2    Leitner, P.3
  • 10
    • 69149089036 scopus 로고    scopus 로고
    • Molecular pathogenesis of Parkinson disease: insights from genetic studies
    • Gasser T. Molecular pathogenesis of Parkinson disease: insights from genetic studies. Expert Rev Mol Med 2009;11:e22.
    • (2009) Expert Rev Mol Med , vol.11
    • Gasser, T.1
  • 11
    • 77954623892 scopus 로고    scopus 로고
    • Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease
    • Aasly JO, Vilarino-Guell C, Dachsel JC, et al. Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease. Mov Disord 2010;25:2156-2163.
    • (2010) Mov Disord , vol.25 , pp. 2156-2163
    • Aasly, J.O.1    Vilarino-Guell, C.2    Dachsel, J.C.3
  • 12
    • 33645139675 scopus 로고    scopus 로고
    • Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease
    • Di Fonzo A, Tassorelli C, De Mari M, et al. Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. Eur J Hum Genet 2006;14:322-331.
    • (2006) Eur J Hum Genet , vol.14 , pp. 322-331
    • Di Fonzo, A.1    Tassorelli, C.2    De Mari, M.3
  • 13
    • 50049104725 scopus 로고    scopus 로고
    • Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
    • Healy DG, Falchi M, O-Sullivan SS, et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 2008;7:583-590.
    • (2008) Lancet Neurol , vol.7 , pp. 583-590
    • Healy, D.G.1    Falchi, M.2    O-Sullivan, S.S.3
  • 14
    • 34548770783 scopus 로고    scopus 로고
    • LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease
    • Bonifati V. LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease. Neurochem Res 2007;32:1700-1708.
    • (2007) Neurochem Res , vol.32 , pp. 1700-1708
    • Bonifati, V.1
  • 15
    • 42049094200 scopus 로고    scopus 로고
    • Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease
    • Haugarvoll K, Rademakers R, Kachergus JM, et al. Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease. Neurology 2008;70:1456-1460.
    • (2008) Neurology , vol.70 , pp. 1456-1460
    • Haugarvoll, K.1    Rademakers, R.2    Kachergus, J.M.3
  • 16
    • 33845204840 scopus 로고    scopus 로고
    • Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques
    • Simon-Sanchez J, Marti-Masso JF, Sanchez-Mut JV, et al. Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques. Mov Disord 2006;21:1954-1959.
    • (2006) Mov Disord , vol.21 , pp. 1954-1959
    • Simon-Sanchez, J.1    Marti-Masso, J.F.2    Sanchez-Mut, J.V.3
  • 17
    • 34147125812 scopus 로고    scopus 로고
    • Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease
    • Goldwurm S, Zini M, Mariani L, et al. Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease. Neurology 2007;68:1141-1143.
    • (2007) Neurology , vol.68 , pp. 1141-1143
    • Goldwurm, S.1    Zini, M.2    Mariani, L.3
  • 18
    • 57649188649 scopus 로고    scopus 로고
    • The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study
    • Latourelle JC, Sun M, Lew MF, et al. The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Med 2008;6:32.
    • (2008) BMC Med , vol.6 , pp. 32
    • Latourelle, J.C.1    Sun, M.2    Lew, M.F.3
  • 19
    • 22044432781 scopus 로고    scopus 로고
    • Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes
    • Bonifati V, Rohe CF, Breedveld GJ, et al. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology 2005;65:87-95.
    • (2005) Neurology , vol.65 , pp. 87-95
    • Bonifati, V.1    Rohe, C.F.2    Breedveld, G.J.3
  • 20
    • 4444331146 scopus 로고    scopus 로고
    • Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients
    • Djarmati A, Hedrich K, Svetel M, et al. Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients. Hum Mutat 2004;23:525.
    • (2004) Hum Mutat , vol.23 , pp. 525
    • Djarmati, A.1    Hedrich, K.2    Svetel, M.3
  • 21
    • 0342368772 scopus 로고    scopus 로고
    • Association between early-onset Parkinson's disease and mutations in the parkin gene
    • Lucking CB, Durr A, Bonifati V, et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. N Engl J Med 2000;342:1560-1567.
    • (2000) N Engl J Med , vol.342 , pp. 1560-1567
    • Lucking, C.B.1    Durr, A.2    Bonifati, V.3
  • 22
    • 59649088353 scopus 로고    scopus 로고
    • FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
    • Di Fonzo A, Dekker MC, Montagna P, et al. FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. Neurology 2009;72:240-245.
    • (2009) Neurology , vol.72 , pp. 240-245
    • Di Fonzo, A.1    Dekker, M.C.2    Montagna, P.3
  • 23
    • 60849121924 scopus 로고    scopus 로고
    • Characterization of PLA2G6 as a locus for dystonia-parkinsonism
    • Paisan-Ruiz C, Bhatia KP, Li A, et al. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 2009;65:19-23.
    • (2009) Ann Neurol , vol.65 , pp. 19-23
    • Paisan-Ruiz, C.1    Bhatia, K.P.2    Li, A.3
  • 24
    • 33749133430 scopus 로고    scopus 로고
    • Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
    • 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.
    • (2006) Nat Genet , vol.38 , pp. 1184-1191
    • Ramirez, A.1    Heimbach, A.2    Grundemann, J.3
  • 25
    • 45149111328 scopus 로고    scopus 로고
    • Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease
    • Kumazawa R, Tomiyama H, Li Y, et al. Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease. Arch Neurol 2008;65:802-808.
    • (2008) Arch Neurol , vol.65 , pp. 802-808
    • Kumazawa, R.1    Tomiyama, H.2    Li, Y.3
  • 27
    • 0033772662 scopus 로고    scopus 로고
    • Autosomal recessive juvenile parkinsonism: a key to understanding nigral degeneration in sporadic Parkinson's disease
    • Hattori N, Shimura H, Kubo S, et al. Autosomal recessive juvenile parkinsonism: a key to understanding nigral degeneration in sporadic Parkinson's disease. Neuropathology 2000;20(Suppl):S85-S90.
    • (2000) Neuropathology , vol.20 , Issue.SUPPL
    • Hattori, N.1    Shimura, H.2    Kubo, S.3
  • 28
    • 77950855127 scopus 로고    scopus 로고
    • PINK1-linked parkinsonism is associated with Lewy body pathology
    • Samaranch L, Lorenzo-Betancor O, Arbelo JM, et al. PINK1-linked parkinsonism is associated with Lewy body pathology. Brain 2010;133:1128-1142.
    • (2010) Brain , vol.133 , pp. 1128-1142
    • Samaranch, L.1    Lorenzo-Betancor, O.2    Arbelo, J.M.3
  • 29
    • 0042415580 scopus 로고    scopus 로고
    • How much phenotypic variation can be attributed to parkin genotype?
    • Lohmann E, Periquet M, Bonifati V, et al. How much phenotypic variation can be attributed to parkin genotype? Ann Neurol 2003;54:176-185.
    • (2003) Ann Neurol , vol.54 , pp. 176-185
    • Lohmann, E.1    Periquet, M.2    Bonifati, V.3
  • 30
    • 80051534540 scopus 로고    scopus 로고
    • A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease
    • Zimprich A, Benet-Pages A, Struhal W, et al. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet 2011;89:168-175.
    • (2011) Am J Hum Genet , vol.89 , pp. 168-175
    • Zimprich, A.1    Benet-Pages, A.2    Struhal, W.3
  • 33
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    • Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011;72:257-268.
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1    Majounie, E.2    Waite, A.3
  • 34
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011;72:245-256.
    • (2011) Neuron , vol.72 , pp. 245-256
    • DeJesus-Hernandez, M.1    Mackenzie, I.R.2    Boeve, B.F.3
  • 35
    • 80052780004 scopus 로고    scopus 로고
    • Translation initiator EIF4G1 mutations in familial Parkinson disease
    • Chartier-Harlin MC, Dachsel JC, Vilarino-Guell C, et al. Translation initiator EIF4G1 mutations in familial Parkinson disease. Am J Hum Genet 2011;89:398-406.
    • (2011) Am J Hum Genet , vol.89 , pp. 398-406
    • Chartier-Harlin, M.C.1    Dachsel, J.C.2    Vilarino-Guell, C.3
  • 36
    • 33746080412 scopus 로고    scopus 로고
    • Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused by inactivation of Drosophila Pink1 is rescued by Parkin
    • Yang Y, Gehrke S, Imai Y, et al. Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused by inactivation of Drosophila Pink1 is rescued by Parkin. Proc Natl Acad Sci U S A 2006;103:10793-10798.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 10793-10798
    • Yang, Y.1    Gehrke, S.2    Imai, Y.3
  • 37
    • 75749156257 scopus 로고    scopus 로고
    • PINK1 is selectively stabilized on impaired mitochondria to activate Parkin
    • Narendra DP, Jin SM, Tanaka A, et al. PINK1 is selectively stabilized on impaired mitochondria to activate Parkin. PLoS Biol 2010;8:e1000298.
    • (2010) PLoS Biol , vol.8
    • Narendra, D.P.1    Jin, S.M.2    Tanaka, A.3
  • 38
    • 58149314211 scopus 로고    scopus 로고
    • Parkin is recruited selectively to impaired mitochondria and promotes their autophagy
    • Narendra D, Tanaka A, Suen DF, Youle RJ. Parkin is recruited selectively to impaired mitochondria and promotes their autophagy. J Cell Biol 2008;183:795-803.
    • (2008) J Cell Biol , vol.183 , pp. 795-803
    • Narendra, D.1    Tanaka, A.2    Suen, D.F.3    Youle, R.J.4
  • 39
    • 75949130828 scopus 로고    scopus 로고
    • PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1
    • Geisler S, Holmstrom KM, Skujat D, et al. PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1. Nat Cell Biol 2010;12:119-131.
    • (2010) Nat Cell Biol , vol.12 , pp. 119-131
    • Geisler, S.1    Holmstrom, K.M.2    Skujat, D.3
  • 40
    • 77951181836 scopus 로고    scopus 로고
    • PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy
    • Matsuda N, Sato S, Shiba K, et al. PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. J Cell Biol 2010;189:211-221.
    • (2010) J Cell Biol , vol.189 , pp. 211-221
    • Matsuda, N.1    Sato, S.2    Shiba, K.3
  • 41
    • 75949098487 scopus 로고    scopus 로고
    • PINK1-dependent recruitment of Parkin to mitochondria in mitophagy
    • Vives-Bauza C, Zhou C, Huang Y, et al. PINK1-dependent recruitment of Parkin to mitochondria in mitophagy. Proc Natl Acad Sci U S A 2010;107:378-383.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 378-383
    • Vives-Bauza, C.1    Zhou, C.2    Huang, Y.3
  • 42
    • 84861204926 scopus 로고    scopus 로고
    • PINK1- and Parkin-mediated mitophagy at a glance
    • Jin SM, Youle RJ. PINK1- and Parkin-mediated mitophagy at a glance. J Cell Sci 2012;125:795-799.
    • (2012) J Cell Sci , vol.125 , pp. 795-799
    • Jin, S.M.1    Youle, R.J.2
  • 43
    • 79952693640 scopus 로고    scopus 로고
    • Mitophagy and Parkinson's disease: the PINK1-parkin link
    • Deas E, Wood NW, Plun-Favreau H. Mitophagy and Parkinson's disease: the PINK1-parkin link. Biochim Biophys Acta 2011;1813:623-633.
    • (2011) Biochim Biophys Acta , vol.1813 , pp. 623-633
    • Deas, E.1    Wood, N.W.2    Plun-Favreau, H.3
  • 44
    • 33646375711 scopus 로고    scopus 로고
    • High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease
    • Bender A, Krishnan KJ, Morris CM, et al. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet 2006;38:515-517.
    • (2006) Nat Genet , vol.38 , pp. 515-517
    • Bender, A.1    Krishnan, K.J.2    Morris, C.M.3
  • 46
    • 0342950666 scopus 로고    scopus 로고
    • Increased susceptibility to sporadic Parkinson's disease by a certain combined alpha-synuclein/apolipoprotein E genotype
    • Kruger R, Vieira-Saecker AM, Kuhn W, et al. Increased susceptibility to sporadic Parkinson's disease by a certain combined alpha-synuclein/apolipoprotein E genotype. Ann Neurol 1999;45:611-617.
    • (1999) Ann Neurol , vol.45 , pp. 611-617
    • Kruger, R.1    Vieira-Saecker, A.M.2    Kuhn, W.3
  • 47
    • 33746869343 scopus 로고    scopus 로고
    • Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease
    • Maraganore DM, de Andrade M, Elbaz A, et al. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA 2006;296:661-670.
    • (2006) JAMA , vol.296 , pp. 661-670
    • Maraganore, D.M.1    de Andrade, M.2    Elbaz, A.3
  • 48
    • 0029773625 scopus 로고    scopus 로고
    • Occurrence of Parkinson's syndrome in type I Gaucher disease
    • Neudorfer O, Giladi N, Elstein D, et al. Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM 1996;89:691-694.
    • (1996) QJM , vol.89 , pp. 691-694
    • Neudorfer, O.1    Giladi, N.2    Elstein, D.3
  • 49
    • 7444237665 scopus 로고    scopus 로고
    • Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
    • Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2004;351:1972-1977.
    • (2004) N Engl J Med , vol.351 , pp. 1972-1977
    • Aharon-Peretz, J.1    Rosenbaum, H.2    Gershoni-Baruch, R.3
  • 50
    • 70350319531 scopus 로고    scopus 로고
    • Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
    • Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 2009;361:1651-1661.
    • (2009) N Engl J Med , vol.361 , pp. 1651-1661
    • Sidransky, E.1    Nalls, M.A.2    Aasly, J.O.3
  • 51
    • 28344457936 scopus 로고    scopus 로고
    • Lrrk2 pathogenic substitutions in Parkinson's disease
    • Mata IF, Kachergus JM, Taylor JP, et al. Lrrk2 pathogenic substitutions in Parkinson's disease. Neurogenetics 2005;6:171-177.
    • (2005) Neurogenetics , vol.6 , pp. 171-177
    • Mata, I.F.1    Kachergus, J.M.2    Taylor, J.P.3
  • 52
    • 35348820061 scopus 로고    scopus 로고
    • The role of common genetic risk variants in Parkinson disease
    • Tan EK. The role of common genetic risk variants in Parkinson disease. Clin Genet 2007;72:387-393.
    • (2007) Clin Genet , vol.72 , pp. 387-393
    • Tan, E.K.1
  • 53
    • 48949092066 scopus 로고    scopus 로고
    • Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease
    • Ross OA, Wu YR, Lee MC, et al. Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease. Ann Neurol 2008;64:88-92.
    • (2008) Ann Neurol , vol.64 , pp. 88-92
    • Ross, O.A.1    Wu, Y.R.2    Lee, M.C.3
  • 54
    • 80052967403 scopus 로고    scopus 로고
    • Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study
    • Ross OA, Soto-Ortolaza AI, Heckman MG, et al. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol 2011;10:898-908.
    • (2011) Lancet Neurol , vol.10 , pp. 898-908
    • Ross, O.A.1    Soto-Ortolaza, A.I.2    Heckman, M.G.3
  • 55
    • 27244451809 scopus 로고    scopus 로고
    • High-resolution whole-genome association study of Parkinson disease
    • Maraganore DM, de Andrade M, Lesnick TG, et al. High-resolution whole-genome association study of Parkinson disease. Am J Hum Genet 2005;77:685-693.
    • (2005) Am J Hum Genet , vol.77 , pp. 685-693
    • Maraganore, D.M.1    de Andrade, M.2    Lesnick, T.G.3
  • 56
    • 79960981876 scopus 로고    scopus 로고
    • Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population
    • Liu X, Cheng R, Verbitsky M, et al. Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. BMC Med Genet 2011;12:104.
    • (2011) BMC Med Genet , vol.12 , pp. 104
    • Liu, X.1    Cheng, R.2    Verbitsky, M.3
  • 57
    • 79959841853 scopus 로고    scopus 로고
    • Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease
    • Do CB, Tung JY, Dorfman E, et al. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genet 2011;7:e1002141.
    • (2011) PLoS Genet , vol.7
    • Do, C.B.1    Tung, J.Y.2    Dorfman, E.3
  • 58
    • 79951811351 scopus 로고    scopus 로고
    • Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies
    • International Parkinson Disease Genomics C
    • International Parkinson Disease Genomics C, Nalls MA, Plagnol V, et al. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet 2011;377:641-649.
    • (2011) Lancet , vol.377 , pp. 641-649
    • Nalls, M.A.1    Plagnol, V.2
  • 59
    • 79956321752 scopus 로고    scopus 로고
    • Genome-wide association study confirms extant PD risk loci among the Dutch
    • Simon-Sanchez J, van Hilten JJ, van de Warrenburg B, et al. Genome-wide association study confirms extant PD risk loci among the Dutch. Eur J Hum Genet 2011;19:655-661.
    • (2011) Eur J Hum Genet , vol.19 , pp. 655-661
    • Simon-Sanchez, J.1    van Hilten, J.J.2    van de Warrenburg, B.3
  • 60
    • 78651110778 scopus 로고    scopus 로고
    • Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population
    • Saad M, Lesage S, Saint-Pierre A, et al. Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population. Hum Mol Genet 2011;20:615-627.
    • (2011) Hum Mol Genet , vol.20 , pp. 615-627
    • Saad, M.1    Lesage, S.2    Saint-Pierre, A.3
  • 61
    • 77951185469 scopus 로고    scopus 로고
    • Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease
    • Edwards TL, Scott WK, Almonte C, et al. Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Ann Hum Genet 2010;74:97-109.
    • (2010) Ann Hum Genet , vol.74 , pp. 97-109
    • Edwards, T.L.1    Scott, W.K.2    Almonte, C.3
  • 62
    • 70549084415 scopus 로고    scopus 로고
    • Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease
    • Satake W, Nakabayashi Y, Mizuta I, et al. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet 2009;41:1303-1307.
    • (2009) Nat Genet , vol.41 , pp. 1303-1307
    • Satake, W.1    Nakabayashi, Y.2    Mizuta, I.3
  • 63
    • 70549088602 scopus 로고    scopus 로고
    • Genome-wide association study reveals genetic risk underlying Parkinson's disease
    • Simon-Sanchez J, Schulte C, Bras JM, et al. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 2009;41:1308-1312.
    • (2009) Nat Genet , vol.41 , pp. 1308-1312
    • Simon-Sanchez, J.1    Schulte, C.2    Bras, J.M.3
  • 64
    • 33749667345 scopus 로고    scopus 로고
    • Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data
    • Fung HC, Scholz S, Matarin M, et al. Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol 2006;5:911-916.
    • (2006) Lancet Neurol , vol.5 , pp. 911-916
    • Fung, H.C.1    Scholz, S.2    Matarin, M.3
  • 65
    • 70349771038 scopus 로고    scopus 로고
    • Genomewide association study for onset age in Parkinson disease
    • Latourelle JC, Pankratz N, Dumitriu A, et al. Genomewide association study for onset age in Parkinson disease. BMC Med Genet 2009;10:98.
    • (2009) BMC Med Genet , vol.10 , pp. 98
    • Latourelle, J.C.1    Pankratz, N.2    Dumitriu, A.3
  • 66
    • 58149100151 scopus 로고    scopus 로고
    • Genomewide association study for susceptibility genes contributing to familial Parkinson disease
    • Pankratz N, Wilk JB, Latourelle JC, et al. Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet 2009;124:593-605.
    • (2009) Hum Genet , vol.124 , pp. 593-605
    • Pankratz, N.1    Wilk, J.B.2    Latourelle, J.C.3
  • 67
    • 79959851714 scopus 로고    scopus 로고
    • A two-stage meta-analysis identifies several new loci for Parkinson's disease
    • International Parkinson's Disease Genomics Consortium, Wellcome Trust Case Control Consortium.
    • International Parkinson's Disease Genomics Consortium, Wellcome Trust Case Control Consortium. A two-stage meta-analysis identifies several new loci for Parkinson's disease. PLoS Genet 2011;7:e1002142.
    • (2011) PLoS Genet , vol.7
  • 68
    • 78650550275 scopus 로고    scopus 로고
    • Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21
    • UK Parkinson's Disease Consortium, Wellcome Trust Case Control Consortium
    • UK Parkinson's Disease Consortium, Wellcome Trust Case Control Consortium, Spencer CC, et al. Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21. Hum Mol Genet 2011;20:345-353.
    • (2011) Hum Mol Genet , vol.20 , pp. 345-353
    • Spencer, C.C.1
  • 69
    • 80655141577 scopus 로고    scopus 로고
    • Evidence for more than one Parkinson's disease-associated variant within the HLA region
    • Hill-Burns EM, Factor SA, Zabetian CP, Thomson G, Payami H. Evidence for more than one Parkinson's disease-associated variant within the HLA region. PLoS One 2011;6:e27109.
    • (2011) PLoS One , vol.6
    • Hill-Burns, E.M.1    Factor, S.A.2    Zabetian, C.P.3    Thomson, G.4    Payami, H.5
  • 70
    • 65949104586 scopus 로고    scopus 로고
    • Genomewide association studies and human disease
    • Hardy J, Singleton A. Genomewide association studies and human disease. N Engl J Med 2009;360:1759-1768.
    • (2009) N Engl J Med , vol.360 , pp. 1759-1768
    • Hardy, J.1    Singleton, A.2
  • 71
    • 4644372063 scopus 로고    scopus 로고
    • The tau H2 haplotype is almost exclusively Caucasian in origin
    • Evans W, Fung HC, Steele J, et al. The tau H2 haplotype is almost exclusively Caucasian in origin. Neurosci Lett 2004;369:183-185.
    • (2004) Neurosci Lett , vol.369 , pp. 183-185
    • Evans, W.1    Fung, H.C.2    Steele, J.3
  • 72
    • 67249117049 scopus 로고    scopus 로고
    • Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
    • Hindorff LA, Sethupathy P, Junkins HA, et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A 2009;106:9362-9367.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 9362-9367
    • Hindorff, L.A.1    Sethupathy, P.2    Junkins, H.A.3
  • 73
    • 79951811351 scopus 로고    scopus 로고
    • Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies
    • International Parkinson Disease Genomics Consortium
    • International Parkinson Disease Genomics Consortium, Nalls MA, Plagnol V, et al. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet 2011;377:641-649.
    • (2011) Lancet , vol.377 , pp. 641-649
    • Nalls, M.A.1    Plagnol, V.2
  • 74
    • 0242300619 scopus 로고    scopus 로고
    • alpha-Synuclein locus triplication causes Parkinson's disease
    • Singleton AB, Farrer M, Johnson J, et al. alpha-Synuclein locus triplication causes Parkinson's disease. Science 2003;302:841.
    • (2003) Science , vol.302 , pp. 841
    • Singleton, A.B.1    Farrer, M.2    Johnson, J.3
  • 75
    • 33751118534 scopus 로고    scopus 로고
    • Age-associated increases of alpha-synuclein in monkeys and humans are associated with nigrostriatal dopamine depletion: is this the target for Parkinson's disease?
    • Chu Y, Kordower JH. Age-associated increases of alpha-synuclein in monkeys and humans are associated with nigrostriatal dopamine depletion: is this the target for Parkinson's disease? Neurobiol Dis 2007;25:134-149.
    • (2007) Neurobiol Dis , vol.25 , pp. 134-149
    • Chu, Y.1    Kordower, J.H.2
  • 76
    • 80055074707 scopus 로고    scopus 로고
    • Gene therapy for Parkinson's and Alzheimer's diseases: from the bench to clinical trials
    • Nobre RJ, Almeida LP. Gene therapy for Parkinson's and Alzheimer's diseases: from the bench to clinical trials. Curr Pharm Des 2011;17:3434-3445.
    • (2011) Curr Pharm Des , vol.17 , pp. 3434-3445
    • Nobre, R.J.1    Almeida, L.P.2
  • 77
    • 84865554325 scopus 로고    scopus 로고
    • Gene therapy for Huntington's disease
    • Ramaswamy S, Kordower JH. Gene therapy for Huntington's disease. Neurobiol Dis 2012;48:243-254.
    • (2012) Neurobiol Dis , vol.48 , pp. 243-254
    • Ramaswamy, S.1    Kordower, J.H.2
  • 78
    • 77953223693 scopus 로고    scopus 로고
    • Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain
    • Gibbs JR, van der Brug MP, Hernandez DG, et al. Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. PLoS Genet 2010;6:e1000952.
    • (2010) PLoS Genet , vol.6
    • Gibbs, J.R.1    van der Brug, M.P.2    Hernandez, D.G.3
  • 79
    • 77956646167 scopus 로고    scopus 로고
    • Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease
    • Hamza TH, Zabetian CP, Tenesa A, et al. Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. Nat Genet 2010;42:781-785.
    • (2010) Nat Genet , vol.42 , pp. 781-785
    • Hamza, T.H.1    Zabetian, C.P.2    Tenesa, A.3
  • 80
    • 2442642599 scopus 로고    scopus 로고
    • Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease
    • van der Walt JM, Noureddine MA, Kittappa R, et al. Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease. Am J Hum Genet 2004;74:1121-1127.
    • (2004) Am J Hum Genet , vol.74 , pp. 1121-1127
    • van der Walt, J.M.1    Noureddine, M.A.2    Kittappa, R.3
  • 81
    • 28744453588 scopus 로고    scopus 로고
    • Comprehensive evaluation of common genetic variation within LRRK2 reveals evidence for association with sporadic Parkinson's disease
    • Skipper L, Li Y, Bonnard C, et al. Comprehensive evaluation of common genetic variation within LRRK2 reveals evidence for association with sporadic Parkinson's disease. Hum Mol Genet 2005;14:3549-3556.
    • (2005) Hum Mol Genet , vol.14 , pp. 3549-3556
    • Skipper, L.1    Li, Y.2    Bonnard, C.3
  • 82
    • 0033951680 scopus 로고    scopus 로고
    • Significant association between the tau gene A0/A0 genotype and Parkinson's disease
    • Pastor P, Ezquerra M, Munoz E, et al. Significant association between the tau gene A0/A0 genotype and Parkinson's disease. Ann Neurol 2000;47:242-245.
    • (2000) Ann Neurol , vol.47 , pp. 242-245
    • Pastor, P.1    Ezquerra, M.2    Munoz, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.