메뉴 건너뛰기




Volumn 70, Issue 11, 2013, Pages 1359-1366

Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: Identification of a novel genetic form of Parkinson disease and its clinical implications

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; AUTOPSY; BRAIN TISSUE; CANADA; CELL LOSS; CHROMOSOME DELETION 22Q11; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE ASSOCIATION; DISEASE COURSE; DOPAMINERGIC NERVE CELL; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; LEWY BODY; MIDDLE AGED; MORBIDITY; NEURITE; NEUROPATHOLOGY; OBSERVATIONAL STUDY; ONSET AGE; PARKINSON DISEASE; PREVALENCE; PRIORITY JOURNAL; RISK FACTOR; TREATMENT RESPONSE; YOUNG ADULT;

EID: 84887258206     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.3646     Document Type: Article
Times cited : (129)

References (44)
  • 1
    • 0344520467 scopus 로고    scopus 로고
    • The prevalence of Parkinson's disease in British Columbia, Canada, estimated by using drug tracer methodology
    • Lai BC, Schulzer M, Marion S, Teschke K, Tsui JK. The prevalence of Parkinson's disease in British Columbia, Canada, estimated by using drug tracer methodology. Parkinsonism Relat Disord. 2003;9(4):233-238.
    • (2003) Parkinsonism Relat Disord , vol.9 , Issue.4 , pp. 233-238
    • Lai, B.C.1    Schulzer, M.2    Marion, S.3    Teschke, K.4    Tsui, J.K.5
  • 2
    • 79959728747 scopus 로고    scopus 로고
    • Epidemiology and etiology of Parkinson's disease: A review of the evidence
    • Wirdefeldt K, Adami HO, Cole P, Trichopoulos D, Mandel J. Epidemiology and etiology of Parkinson's disease: a review of the evidence. Eur J Epidemiol. 2011;26(suppl 1):S1-S58.
    • (2011) Eur J Epidemiol , vol.26 , Issue.SUPPL. 1
    • Wirdefeldt, K.1    Adami, H.O.2    Cole, P.3    Trichopoulos, D.4    Mandel, J.5
  • 3
    • 84865864065 scopus 로고    scopus 로고
    • The genetics and neuropathology of Parkinson's disease
    • Houlden H, Singleton AB. The genetics and neuropathology of Parkinson's disease. Acta Neuropathol. 2012;124(3):325-338.
    • (2012) Acta Neuropathol , vol.124 , Issue.3 , pp. 325-338
    • Houlden, H.1    Singleton, A.B.2
  • 4
    • 61649104022 scopus 로고    scopus 로고
    • Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease
    • Macedo MG, Verbaan D, Fang Y, et al. Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease. Mov Disord. 2009;24(2):196-203.
    • (2009) Mov Disord , vol.24 , Issue.2 , pp. 196-203
    • Macedo, M.G.1    Verbaan, D.2    Fang, Y.3
  • 5
    • 77957043835 scopus 로고    scopus 로고
    • Frequency of known mutations in early-onset Parkinson disease: Implication for genetic counseling: The consortium on risk for early onset Parkinson disease study
    • Alcalay RN, Caccappolo E, Mejia-Santana H, et al. Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study. Arch Neurol. 2010;67(9):1116-1122.
    • (2010) Arch Neurol , vol.67 , Issue.9 , pp. 1116-1122
    • Alcalay, R.N.1    Caccappolo, E.2    Mejia-Santana, H.3
  • 6
    • 0031671235 scopus 로고    scopus 로고
    • Childhood-onset schizophrenia associated with parkinsonism in a patient with amicrodeletion of chromosome 22
    • Krahn LE, Maraganore DM, Michels VV. Childhood-onset schizophrenia associated with parkinsonism in a patient with amicrodeletion of chromosome 22. Mayo Clin Proc. 1998;73(10):956-959.
    • (1998) Mayo Clin Proc , vol.73 , Issue.10 , pp. 956-959
    • Krahn, L.E.1    Maraganore, D.M.2    Michels, V.V.3
  • 7
  • 8
    • 78049295283 scopus 로고    scopus 로고
    • Co-occurrence of early-onset Parkinson disease and 22q11.2 deletion syndrome: Potential role for dopamine transporter imaging
    • Booij J, van Amelsvoort T, Boot E. Co-occurrence of early-onset Parkinson disease and 22q11.2 deletion syndrome: potential role for dopamine transporter imaging. Am J Med Genet A. 2010;152A(11):2937-2938.
    • (2010) Am J Med Genet A , vol.152 A , Issue.11 , pp. 2937-2938
    • Booij, J.1    Van Amelsvoort, T.2    Boot, E.3
  • 9
    • 0031671548 scopus 로고    scopus 로고
    • A population study of chromosome 22q11 deletions in infancy
    • Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child. 1998;79(4):348-351.
    • (1998) Arch Dis Child , vol.79 , Issue.4 , pp. 348-351
    • Goodship, J.1    Cross, I.2    LiLing, J.3    Wren, C.4
  • 10
    • 79960444931 scopus 로고    scopus 로고
    • Practical guidelines for managing patients with 22q11.2 deletion syndrome
    • International 22q11.2 Deletion Syndrome Consortium
    • Bassett AS, McDonald-McGinn DM, Devriendt K, et al; International 22q11.2 Deletion Syndrome Consortium. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332-339; e1.
    • (2011) J Pediatr , vol.159 , Issue.2
    • Bassett, A.S.1    McDonald-McGinn, D.M.2    Devriendt, K.3
  • 11
    • 57049132697 scopus 로고    scopus 로고
    • Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
    • Bassett AS, Marshall CR, Lionel AC, Chow EW, Scherer SW. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Hum Mol Genet. 2008;17(24):4045-4053.
    • (2008) Hum Mol Genet , vol.17 , Issue.24 , pp. 4045-4053
    • Bassett, A.S.1    Marshall, C.R.2    Lionel, A.C.3    Chow, E.W.4    Scherer, S.W.5
  • 12
    • 27444447025 scopus 로고    scopus 로고
    • Clinical features of 78 adults with 22q11 deletion syndrome
    • Bassett AS, Chow EW, Husted J, et al. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A. 2005;138(4):307-313.
    • (2005) Am J Med Genet A , vol.138 , Issue.4 , pp. 307-313
    • Bassett, A.S.1    Chow, E.W.2    Husted, J.3
  • 13
    • 56349136292 scopus 로고    scopus 로고
    • Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease
    • Fung WL, Chow EW, Webb GD, Gatzoulis MA, Bassett AS. Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease. Int J Cardiol. 2008;131(1):51-58.
    • (2008) Int J Cardiol , vol.131 , Issue.1 , pp. 51-58
    • Fung, W.L.1    Chow, E.W.2    Webb, G.D.3    Gatzoulis, M.A.4    Bassett, A.S.5
  • 15
    • 84871273435 scopus 로고    scopus 로고
    • Lewy pathology is not the first sign of degeneration in vulnerable neurons in Parkinson disease
    • Milber JM, Noorigian JV, Morley JF, et al. Lewy pathology is not the first sign of degeneration in vulnerable neurons in Parkinson disease. Neurology. 2012;79(24):2307-2314.
    • (2012) Neurology , vol.79 , Issue.24 , pp. 2307-2314
    • Milber, J.M.1    Noorigian, J.V.2    Morley, J.F.3
  • 16
    • 77956328282 scopus 로고    scopus 로고
    • Clinically detectable copy number variations in a Canadian catchment population of schizophrenia
    • Bassett AS, Costain G, Fung WLA, et al. Clinically detectable copy number variations in a Canadian catchment population of schizophrenia. J Psychiatr Res. 2010;44(15):1005-1009.
    • (2010) J Psychiatr Res , vol.44 , Issue.15 , pp. 1005-1009
    • Bassett, A.S.1    Costain, G.2    Fung, W.L.A.3
  • 17
    • 66249135663 scopus 로고    scopus 로고
    • Premature death in adults with 22q11.2 deletion syndrome
    • Bassett AS, Chow EW, Husted J, et al. Premature death in adults with 22q11.2 deletion syndrome. J Med Genet. 2009;46(5):324-330.
    • (2009) J Med Genet , vol.46 , Issue.5 , pp. 324-330
    • Bassett, A.S.1    Chow, E.W.2    Husted, J.3
  • 18
    • 0026514953 scopus 로고
    • Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinico-pathological study of 100 cases
    • Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry. 1992;55(3):181-184.
    • (1992) J Neurol Neurosurg Psychiatry , vol.55 , Issue.3 , pp. 181-184
    • Hughes, A.J.1    Daniel, S.E.2    Kilford, L.3    Lees, A.J.4
  • 20
    • 0037428241 scopus 로고    scopus 로고
    • Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
    • 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(5604):256-259.
    • (2003) Science , vol.299 , Issue.5604 , pp. 256-259
    • Bonifati, V.1    Rizzu, P.2    Van Baren, M.J.3
  • 21
    • 18244412384 scopus 로고    scopus 로고
    • Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: Evidence for variable homozygous deletions in the Parkin gene in affected individuals
    • Hattori N, Kitada T, Matsumine H, et al. Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals. Ann Neurol. 1998;44(6):935-941.
    • (1998) Ann Neurol , vol.44 , Issue.6 , pp. 935-941
    • Hattori, N.1    Kitada, T.2    Matsumine, H.3
  • 22
    • 10044275502 scopus 로고    scopus 로고
    • Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease
    • Rogaeva E, Johnson J, Lang AE, et al. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol. 2004;61(12):1898- 1904.
    • (2004) Arch Neurol , vol.61 , Issue.12 , pp. 1898-1904
    • Rogaeva, E.1    Johnson, J.2    Lang, A.E.3
  • 23
    • 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(5646):841.
    • (2003) Science , vol.302 , Issue.5646 , pp. 841
    • Singleton, A.B.1    Farrer, M.2    Johnson, J.3
  • 24
    • 24644431901 scopus 로고    scopus 로고
    • LRRK2 gene in Parkinson disease: Mutation analysis and case control association study
    • Paisán-Ruíz C, Lang AE, Kawarai T, et al. LRRK2 gene in Parkinson disease: mutation analysis and case control association study. Neurology. 2005;65(5):696-700.
    • (2005) Neurology , vol.65 , Issue.5 , pp. 696-700
    • Paisán-Ruíz, C.1    Lang, A.E.2    Kawarai, T.3
  • 25
    • 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(4):601-607.
    • (2004) Neuron , vol.44 , Issue.4 , pp. 601-607
    • Zimprich, A.1    Biskup, S.2    Leitner, P.3
  • 26
    • 24644462201 scopus 로고    scopus 로고
    • Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers
    • Pramstaller PP, Schlossmacher MG, Jacques TS, et al. Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. Ann Neurol. 2005;58(3):411-422.
    • (2005) Ann Neurol , vol.58 , Issue.3 , pp. 411-422
    • Pramstaller, P.P.1    Schlossmacher, M.G.2    Jacques, T.S.3
  • 27
    • 79959805164 scopus 로고    scopus 로고
    • miRWalk-database: Prediction of possible miRNA binding sites by "walking" the genes of three genomes
    • Dweep H, Sticht C, Pandey P, Gretz N. miRWalk-database: prediction of possible miRNA binding sites by "walking" the genes of three genomes. J Biomed Inform. 2011;44(5):839-847.
    • (2011) J Biomed Inform , vol.44 , Issue.5 , pp. 839-847
    • Dweep, H.1    Sticht, C.2    Pandey, P.3    Gretz, N.4
  • 28
    • 43949124669 scopus 로고    scopus 로고
    • Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model
    • Stark KL, Xu B, Bagchi A, et al. Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model. Nat Genet. 2008;40(6):751-760.
    • (2008) Nat Genet , vol.40 , Issue.6 , pp. 751-760
    • Stark, K.L.1    Xu, B.2    Bagchi, A.3
  • 29
    • 84876088727 scopus 로고    scopus 로고
    • miRNA-mediated risk for schizophrenia in 22q11.2 deletion syndrome
    • Brzustowicz LM, Bassett AS. miRNA-mediated risk for schizophrenia in 22q11.2 deletion syndrome. Front Genet. 2012;3:291.
    • (2012) Front Genet , vol.3 , pp. 291
    • Brzustowicz, L.M.1    Bassett, A.S.2
  • 30
    • 0034700158 scopus 로고    scopus 로고
    • Parkin functions as an E2-dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1
    • Zhang Y, Gao J, Chung KK, Huang H, Dawson VL, Dawson TM. Parkin functions as an E2-dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1. Proc Natl Acad Sci U S A. 2000;97(24):13354-13359.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , Issue.24 , pp. 13354-13359
    • Zhang, Y.1    Gao, J.2    Chung, K.K.3    Huang, H.4    Dawson, V.L.5    Dawson, T.M.6
  • 31
    • 53649100669 scopus 로고    scopus 로고
    • Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes
    • Maynard TM, Meechan DW, Dudevoir ML, et al. Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes. Mol Cell Neurosci. 2008;39(3):439-451.
    • (2008) Mol Cell Neurosci , vol.39 , Issue.3 , pp. 439-451
    • Maynard, T.M.1    Meechan, D.W.2    Dudevoir, M.L.3
  • 33
    • 70349492911 scopus 로고    scopus 로고
    • Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome
    • Meechan DW, Tucker ES, Maynard TM, LaMantia AS. Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. Proc Natl Acad Sci U S A. 2009;106(38):16434- 16445.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , Issue.38 , pp. 16434-16445
    • Meechan, D.W.1    Tucker, E.S.2    Maynard, T.M.3    LaMantia, A.S.4
  • 34
    • 84867272432 scopus 로고    scopus 로고
    • Age-dependent microRNA control of synaptic plasticity in 22q11 deletion syndrome and schizophrenia
    • Earls LR, Fricke RG, Yu J, Berry RB, Baldwin LT, Zakharenko SS. Age-dependent microRNA control of synaptic plasticity in 22q11 deletion syndrome and schizophrenia. J Neurosci. 2012;32(41):14132-14144.
    • (2012) J Neurosci , vol.32 , Issue.41 , pp. 14132-14144
    • Earls, L.R.1    Fricke, R.G.2    Yu, J.3    Berry, R.B.4    Baldwin, L.T.5    Zakharenko, S.S.6
  • 35
    • 84867552676 scopus 로고    scopus 로고
    • Past exposure to neuroleptic drugs and risk of Parkinson disease in an elderly cohort
    • Foubert-Samier A, Helmer C, Perez F, et al. Past exposure to neuroleptic drugs and risk of Parkinson disease in an elderly cohort. Neurology. 2012;79(15):1615-1621.
    • (2012) Neurology , vol.79 , Issue.15 , pp. 1615-1621
    • Foubert-Samier, A.1    Helmer, C.2    Perez, F.3
  • 36
    • 0032719083 scopus 로고    scopus 로고
    • The neuropathological effects of antipsychotic drugs
    • Harrison PJ. The neuropathological effects of antipsychotic drugs. Schizophr Res. 1999;40(2):87-99.
    • (1999) Schizophr Res , vol.40 , Issue.2 , pp. 87-99
    • Harrison, P.J.1
  • 37
    • 0032924127 scopus 로고    scopus 로고
    • The neuropathology of schizophrenia: A critical review of the data and their interpretation
    • Harrison PJ. The neuropathology of schizophrenia: a critical review of the data and their interpretation. Brain. 1999;122(pt 4):593-624.
    • (1999) Brain , vol.122 , Issue.PART 4 , pp. 593-624
    • Harrison, P.J.1
  • 38
    • 84871835435 scopus 로고    scopus 로고
    • Striatal presynaptic dopamine in schizophrenia, part I: Meta-analysis of dopamine active transporter (DAT) density
    • Fusar-Poli P, Meyer-Lindenberg A. Striatal presynaptic dopamine in schizophrenia, part I: meta-analysis of dopamine active transporter (DAT) density. Schizophr Bull. 2013;39(1):22-32.
    • (2013) Schizophr Bull , vol.39 , Issue.1 , pp. 22-32
    • Fusar-Poli, P.1    Meyer-Lindenberg, A.2
  • 39
    • 49549110961 scopus 로고    scopus 로고
    • Comparative genome hybridization array analysis for sporadic Parkinson's disease
    • Kim JS, Yoo JY, Lee KS, et al. Comparative genome hybridization array analysis for sporadic Parkinson's disease. Int J Neurosci. 2008;118(9):1331- 1345.
    • (2008) Int J Neurosci , vol.118 , Issue.9 , pp. 1331-1345
    • Kim, J.S.1    Yoo, J.Y.2    Lee, K.S.3
  • 40
    • 38949093023 scopus 로고    scopus 로고
    • Genomewide SNP assay reveals mutations underlying Parkinson disease
    • Simon-Sanchez J, Scholz S, Matarin Mdel M, et al. Genomewide SNP assay reveals mutations underlying Parkinson disease. Hum Mutat. 2008;29(2):315-322.
    • (2008) Hum Mutat , vol.29 , Issue.2 , pp. 315-322
    • Simon-Sanchez, J.1    Scholz, S.2    Matarin Mdel, M.3
  • 41
    • 79952115184 scopus 로고    scopus 로고
    • A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease
    • Bademci G, Edwards TL, Torres AL, et al. A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease. Hum Mutat. 2010;31(10):1767- 1771.
    • (2010) Hum Mutat , vol.31 , Issue.10 , pp. 1767-1771
    • Bademci, G.1    Edwards, T.L.2    Torres, A.L.3
  • 42
    • 79960989179 scopus 로고    scopus 로고
    • Copy number variation in familial Parkinson disease
    • PSG-PROGENI and GenePD Investigators, Coordinators, and Molecular Genetic Laboratories
    • Pankratz N, Dumitriu A, Hetrick KN, et al; PSG-PROGENI and GenePD Investigators, Coordinators, and Molecular Genetic Laboratories. Copy number variation in familial Parkinson disease. PLoS One. 2011;6(8):e20988.
    • (2011) PLoS One , vol.6 , Issue.8
    • Pankratz, N.1    Dumitriu, A.2    Hetrick, K.N.3
  • 43
    • 81055125527 scopus 로고    scopus 로고
    • The role of dopaminergic imaging in patients with symptoms of dopaminergic system neurodegeneration
    • Cummings JL, Henchcliffe C, Schaier S, Simuni T, Waxman A, Kemp P. The role of dopaminergic imaging in patients with symptoms of dopaminergic system neurodegeneration. Brain. 2011;134(pt 11):3146-3166.
    • (2011) Brain , vol.134 , Issue.PART 11 , pp. 3146-3166
    • Cummings, J.L.1    Henchcliffe, C.2    Schaier, S.3    Simuni, T.4    Waxman, A.5    Kemp, P.6
  • 44
    • 80051482090 scopus 로고    scopus 로고
    • An update expert opinion on management and research strategies in Parkinson's disease psychosis
    • Goldman JG, Vaughan CL, Goetz CG. An update expert opinion on management and research strategies in Parkinson's disease psychosis. Expert Opin Pharmacother. 2011;12(13):2009-2024.
    • (2011) Expert Opin Pharmacother , vol.12 , Issue.13 , pp. 2009-2024
    • Goldman, J.G.1    Vaughan, C.L.2    Goetz, C.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.