메뉴 건너뛰기




Volumn 58, Issue 3, 2005, Pages 411-422

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; DOPAMINE RECEPTOR STIMULATING AGENT; LEVODOPA; PARKIN;

EID: 24644462201     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20587     Document Type: Article
Times cited : (217)

References (48)
  • 1
    • 7244261867 scopus 로고    scopus 로고
    • Distribution, type, and origin of Parkin mutations: Review and case studies
    • Hedrich K, Eskelson C, Wilmot B, et al. Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord 2004;19:1146-1157.
    • (2004) Mov Disord , vol.19 , pp. 1146-1157
    • Hedrich, K.1    Eskelson, C.2    Wilmot, B.3
  • 2
    • 0342368772 scopus 로고    scopus 로고
    • Association between early-onset Parkinson's disease and mutations in the parkin gene
    • French Parkinson's Disease Genetics Study Group
    • Lucking CB, Durr A, Bonifati V, et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. French Parkinson's Disease Genetics Study Group. 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
  • 3
    • 0036229267 scopus 로고    scopus 로고
    • Role of parkin mutations in 111 community-based patients with early-onset parkinsonism
    • Kann M, Jacobs H, Mohrmann K, et al. Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol 2002;51:621-625.
    • (2002) Ann Neurol , vol.51 , pp. 621-625
    • Kann, M.1    Jacobs, H.2    Mohrmann, K.3
  • 4
    • 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;4:176-185.
    • (2003) Ann Neurol , vol.4 , pp. 176-185
    • Lohmann, E.1    Periquet, M.2    Bonifati, V.3
  • 5
    • 0035421416 scopus 로고    scopus 로고
    • The importance of gene dosage studies: Mutational analysis of the parkin gene in early-onset parkinsonism
    • Hedrich K, Kann M, Lanthaler AJ, et al. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 2001;10:1649-1656.
    • (2001) Hum Mol Genet , vol.10 , pp. 1649-1656
    • Hedrich, K.1    Kann, M.2    Lanthaler, A.J.3
  • 6
    • 0033933192 scopus 로고    scopus 로고
    • Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: Expanding the phenotype
    • Klein C, Pramstaller PP, Kis B, et al. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 2000;48:65-71.
    • (2000) Ann Neurol , vol.48 , pp. 65-71
    • Klein, C.1    Pramstaller, P.P.2    Kis, B.3
  • 7
    • 0034848395 scopus 로고    scopus 로고
    • Lewy bodies and parkinsonism in families with parkin mutations
    • Farrer M, Chan P, Chen R, et al. Lewy bodies and parkinsonism in families with parkin mutations. Ann Neurol 2001;50: 293-300.
    • (2001) Ann Neurol , vol.50 , pp. 293-300
    • Farrer, M.1    Chan, P.2    Chen, R.3
  • 8
    • 4143125488 scopus 로고    scopus 로고
    • Parkin-positive autosomal recessive juvenile parkinsonism with alpha-synuclein-positive inclusions
    • Sasaki S, Shirata A, Yamane K, et al. Parkin-positive autosomal recessive juvenile parkinsonism with alpha-synuclein-positive inclusions. Neurology 2004;63:678-682.
    • (2004) Neurology , vol.63 , pp. 678-682
    • Sasaki, S.1    Shirata, A.2    Yamane, K.3
  • 9
    • 0037161261 scopus 로고    scopus 로고
    • Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations
    • Hedrich K, Marder K, Harris J, et al. Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology 2002;58:1239-1246.
    • (2002) Neurology , vol.58 , pp. 1239-1246
    • Hedrich, K.1    Marder, K.2    Harris, J.3
  • 10
    • 0037134095 scopus 로고    scopus 로고
    • The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: Evidence for enzymatic parkin function in humans
    • Hilker R, Klein C, Hedrich K, et al. The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans. Neurosci Lett 2002;323: 50-54.
    • (2002) Neurosci Lett , vol.323 , pp. 50-54
    • Hilker, R.1    Klein, C.2    Hedrich, K.3
  • 11
    • 18444398035 scopus 로고    scopus 로고
    • Complex relationship between Parkin mutations and Parkinson disease
    • West A, Periquet M, Lincoln S, et al. Complex relationship between Parkin mutations and Parkinson disease. Am J Med Genet 2002;114:584-591.
    • (2002) Am J Med Genet , vol.114 , pp. 584-591
    • West, A.1    Periquet, M.2    Lincoln, S.3
  • 12
    • 12244262766 scopus 로고    scopus 로고
    • Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease
    • Foroud T, Uniacke SK, Liu L, et al. Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. Neurology 2003;60:796-801.
    • (2003) Neurology , vol.60 , pp. 796-801
    • Foroud, T.1    Uniacke, S.K.2    Liu, L.3
  • 13
    • 0035096967 scopus 로고    scopus 로고
    • Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene
    • Hilker R, Klein C, Ghaemi M, et al. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann Neurol 2001;49:367-376.
    • (2001) Ann Neurol , vol.49 , pp. 367-376
    • Hilker, R.1    Klein, C.2    Ghaemi, M.3
  • 14
    • 4644278845 scopus 로고    scopus 로고
    • Brain parenchyma sonography detects preclinical parkinsonism
    • Walter U, Klein C, Hilker R, et al. Brain parenchyma sonography detects preclinical parkinsonism. Mov Disord 2004;19: 1445-1449.
    • (2004) Mov Disord , vol.19 , pp. 1445-1449
    • Walter, U.1    Klein, C.2    Hilker, R.3
  • 15
    • 0023784368 scopus 로고
    • A comparison of clinical and pathological features of young- and old-onset Parkinson's disease
    • Gibb WR, Lees AJ. A comparison of clinical and pathological features of young- and old-onset Parkinson's disease. Neurology 1988;38:1402-1406.
    • (1988) Neurology , vol.38 , pp. 1402-1406
    • Gibb, W.R.1    Lees, A.J.2
  • 16
    • 0035515087 scopus 로고    scopus 로고
    • Parkinsonism: Onset, progression, and mortality. 1967
    • Hoehn MM, Yahr MD. Parkinsonism: onset, progression, and mortality. 1967. Neurology 2001;57:S11-S26.
    • (2001) Neurology , vol.57
    • Hoehn, M.M.1    Yahr, M.D.2
  • 17
    • 0000224448 scopus 로고
    • Recent developments in Parkinson's disease
    • Fahn S, Goldstein M, Calne DB, et al, eds. Florham Park, NJ: MacMillan Healthcare Information
    • Fahn S, Elton RL, and Members of the UPDRS Development Committee. Recent developments in Parkinson's disease. In: Fahn S, Goldstein M, Calne DB, et al, eds. Recent developments in Parkinson's disease. Vol 2. Florham Park, NJ: MacMillan Healthcare Information, 1987:205-211.
    • (1987) Recent Developments in Parkinson's Disease , vol.2 , pp. 205-211
    • Fahn, S.1    Elton, R.L.2
  • 18
    • 0036095285 scopus 로고    scopus 로고
    • Parkin localizes to the Lewy bodies of Parkinson disease and dementia with Lewy bodies
    • Schlossmacher MG, Frosch MP, Gai WP, et al. Parkin localizes to the Lewy bodies of Parkinson disease and dementia with Lewy bodies. Am J Pathol 2002;160:1655-1667.
    • (2002) Am J Pathol , vol.160 , pp. 1655-1667
    • Schlossmacher, M.G.1    Frosch, M.P.2    Gai, W.P.3
  • 19
    • 24644462543 scopus 로고    scopus 로고
    • Parkinson's disease-assays for the ubiquitin ligase activity of neural parkin
    • Patterson C, Cyr DM, eds. Totawa, NJ: Humana Press
    • Schlossmacher MG, Shimura H. Parkinson's disease-assays for the ubiquitin ligase activity of neural parkin. In: Patterson C, Cyr DM, eds. Methods in molecular biology: ubiquitin-proteasome protocols. Totawa, NJ: Humana Press, 2005:315-369.
    • (2005) Methods in Molecular Biology: Ubiquitin-proteasome Protocols , pp. 315-369
    • Schlossmacher, M.G.1    Shimura, H.2
  • 20
    • 10744224951 scopus 로고    scopus 로고
    • Novel monoclonal antibodies demonstrate biochemical variation of brain parkin with age
    • Pawlyk AC, Giasson BI, Sampathu DM, et al. Novel monoclonal antibodies demonstrate biochemical variation of brain parkin with age. J Biol Chem 2003;278:48120-48128.
    • (2003) J Biol Chem , vol.278 , pp. 48120-48128
    • Pawlyk, A.C.1    Giasson, B.I.2    Sampathu, D.M.3
  • 21
    • 33845382806 scopus 로고
    • Nonparametric estimation from incomplete observations
    • Kaplan EL, Meier P. Nonparametric estimation from incomplete observations. J Am Stat Assoc 1958;53:457-481.
    • (1958) J Am Stat Assoc , vol.53 , pp. 457-481
    • Kaplan, E.L.1    Meier, P.2
  • 23
    • 0032499264 scopus 로고    scopus 로고
    • Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
    • Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998;392:605-608.
    • (1998) Nature , vol.392 , pp. 605-608
    • Kitada, T.1    Asakawa, S.2    Hattori, N.3
  • 24
    • 24644448584 scopus 로고    scopus 로고
    • Synphilin-1 and parkin show overlapping expression patterns in human brain and form aggresomes in response to proteasomal inhibition
    • May 12 epub
    • Bandopadhyay R, Kingsbury AE, Muqit MM, et al. Synphilin-1 and parkin show overlapping expression patterns in human brain and form aggresomes in response to proteasomal inhibition. Neurobiol Dis 2005; May 12 epub.
    • (2005) Neurobiol Dis
    • Bandopadhyay, R.1    Kingsbury, A.E.2    Muqit, M.M.3
  • 25
    • 0026511969 scopus 로고
    • The natural history of Parkinson's disease in the pre-levodopa and post-levodopa eras
    • Hoehn MM. The natural history of Parkinson's disease in the pre-levodopa and post-levodopa eras. Neurol Clin 1992;10: 331-339.
    • (1992) Neurol Clin , vol.10 , pp. 331-339
    • Hoehn, M.M.1
  • 26
    • 0015590978 scopus 로고
    • Paralysis agitans of early onset with marked diurnal fluctuation of symptoms
    • Yamamura Y, Sobue I, Ando K, et al. Paralysis agitans of early onset with marked diurnal fluctuation of symptoms. Neurology 1973;23:239-244.
    • (1973) Neurology , vol.23 , pp. 239-244
    • Yamamura, Y.1    Sobue, I.2    Ando, K.3
  • 28
    • 0032231463 scopus 로고    scopus 로고
    • Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: Detailed genetic mapping of the linked region
    • Jones AC, Yamamura Y, Almasy L, et al. Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: detailed genetic mapping of the linked region. Am J Hum Genet 1998;63:80-87.
    • (1998) Am J Hum Genet , vol.63 , pp. 80-87
    • Jones, A.C.1    Yamamura, Y.2    Almasy, L.3
  • 29
    • 0031721141 scopus 로고    scopus 로고
    • Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q
    • Mon H, Kondo T, Yokochi M, et al. Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology 1998;51:890-892.
    • (1998) Neurology , vol.51 , pp. 890-892
    • Mon, H.1    Kondo, T.2    Yokochi, M.3
  • 30
    • 0033814671 scopus 로고    scopus 로고
    • An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene
    • Hayashi S, Wakabayashi K, Ishikawa A, et al. An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene. Mov Disord 2000;15:884-888.
    • (2000) Mov Disord , vol.15 , pp. 884-888
    • Hayashi, S.1    Wakabayashi, K.2    Ishikawa, A.3
  • 31
    • 0035957112 scopus 로고    scopus 로고
    • Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations
    • van de Warrenburg BP, Lammens M, Lucking CB, et al. Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations. Neurology 2001;56:555-557.
    • (2001) Neurology , vol.56 , pp. 555-557
    • Van De Warrenburg, B.P.1    Lammens, M.2    Lucking, C.B.3
  • 32
    • 0036868476 scopus 로고    scopus 로고
    • Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein
    • Morales B, Martinez A, Gonzalo I, et al. Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein. Mov Disord 2002;17:1374-1380.
    • (2002) Mov Disord , vol.17 , pp. 1374-1380
    • Morales, B.1    Martinez, A.2    Gonzalo, I.3
  • 33
    • 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
  • 34
    • 0034776095 scopus 로고    scopus 로고
    • Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: Implications for Lewy-body formation in Parkinson disease
    • Chung KK, Zhang Y, Lim KL, et al. Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease. Nat Med 2001; 7:1144-1150.
    • (2001) Nat Med , vol.7 , pp. 1144-1150
    • Chung, K.K.1    Zhang, Y.2    Lim, K.L.3
  • 35
    • 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, et al. 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;97:13354-13359.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 13354-13359
    • Zhang, Y.1    Gao, J.2    Chung, K.K.3
  • 36
    • 3142762939 scopus 로고    scopus 로고
    • Genomic portraits of the nervous system in health and disease
    • D'Agata V, Cavallaro S. Genomic portraits of the nervous system in health and disease. Neurochem Res 2004;29:1201-1212.
    • (2004) Neurochem Res , vol.29 , pp. 1201-1212
    • D'Agata, V.1    Cavallaro, S.2
  • 37
    • 10644281090 scopus 로고    scopus 로고
    • Lentiviral vector delivery of parkin prevents dopaminergic degeneration in an alpha-synuclein rat model of Parkinson's disease
    • Lo Bianco C, Schneider BL, Bauer M, et al. Lentiviral vector delivery of parkin prevents dopaminergic degeneration in an alpha-synuclein rat model of Parkinson's disease. Proc Natl Acad Sci U S A 2004;101:17510-17515.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 17510-17515
    • Lo Bianco, C.1    Schneider, B.L.2    Bauer, M.3
  • 38
    • 0344011981 scopus 로고    scopus 로고
    • RING finger 1 mutations in Parkin produce altered localization of the protein
    • Cookson MR, Lockhart PJ, McLendon C, et al. RING finger 1 mutations in Parkin produce altered localization of the protein. Hum Mol Genet 2003;12:2957-2965.
    • (2003) Hum Mol Genet , vol.12 , pp. 2957-2965
    • Cookson, M.R.1    Lockhart, P.J.2    McLendon, C.3
  • 39
    • 0141891953 scopus 로고    scopus 로고
    • Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons
    • Goldberg MS, Fleming SM, Palacino JJ, et al. Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons. J Biol Chem 2003;278:43628-43635.
    • (2003) J Biol Chem , vol.278 , pp. 43628-43635
    • Goldberg, M.S.1    Fleming, S.M.2    Palacino, J.J.3
  • 40
    • 2442481789 scopus 로고    scopus 로고
    • Mitochondrial dysfunction and oxidative damage in parkin-deficient mice
    • Palacino JJ, Sagi D, Goldberg MS, et al. Mitochondrial dysfunction and oxidative damage in parkin-deficient mice. J Biol Chem 2004;279:18614-18622.
    • (2004) J Biol Chem , vol.279 , pp. 18614-18622
    • Palacino, J.J.1    Sagi, D.2    Goldberg, M.S.3
  • 41
    • 17844406856 scopus 로고    scopus 로고
    • Alpha-synuclein phosphorylation controls neurotoxicity and inclusion formation in a Drosophila model of Parkinson disease
    • Chen L, Feany MB. alpha-Synuclein phosphorylation controls neurotoxicity and inclusion formation in a Drosophila model of Parkinson disease. Nat Neurosci 2005;8:657-663.
    • (2005) Nat Neurosci , vol.8 , pp. 657-663
    • Chen, L.1    Feany, M.B.2
  • 42
    • 0038662544 scopus 로고    scopus 로고
    • Parkin disease: A phenotypic study of a large case series
    • Khan NL, Graham E, Critchley P, et al. Parkin disease: a phenotypic study of a large case series. Brain 2003;126: 1279-1292.
    • (2003) Brain , vol.126 , pp. 1279-1292
    • Khan, N.L.1    Graham, E.2    Critchley, P.3
  • 43
    • 0038754178 scopus 로고    scopus 로고
    • Parkin mutations and susceptibility alleles in late-onset Parkinson's disease
    • Oliveira SA, Scott WK, Martin ER, et al. Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. Ann Neurol 2003;53:624-629.
    • (2003) Ann Neurol , vol.53 , pp. 624-629
    • Oliveira, S.A.1    Scott, W.K.2    Martin, E.R.3
  • 44
    • 0031013848 scopus 로고    scopus 로고
    • Prevalence of parkinsonism and Parkinson's disease in Europe: The EUROPARKINSON Collaborative Study. European Community Concerted Action on the Epidemiology of Parkinson's disease
    • de Rijk MC, Tzourio C, Breteler MM, et al. Prevalence of parkinsonism and Parkinson's disease in Europe: the EUROPARKINSON Collaborative Study. European Community Concerted Action on the Epidemiology of Parkinson's disease. J Neurol Neurosurg Psychiatry 1997;62:10-15.
    • (1997) J Neurol Neurosurg Psychiatry , vol.62 , pp. 10-15
    • De Rijk, M.C.1    Tzourio, C.2    Breteler, M.M.3
  • 45
    • 1342347411 scopus 로고    scopus 로고
    • Parkin variants in North American Parkinson's disease: Cases and controls
    • Lincoln SJ, Maraganore DM, Lesnick TG, et al. Parkin variants in North American Parkinson's disease: cases and controls. Mov Disord 2003;18:1306-1311.
    • (2003) Mov Disord , vol.18 , pp. 1306-1311
    • Lincoln, S.J.1    Maraganore, D.M.2    Lesnick, T.G.3
  • 46
    • 10744223494 scopus 로고    scopus 로고
    • Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families
    • Pankratz N, Nichols WC, Uniacke SK, et al. Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families. Hum Mol Genet 2003;12:2599-2608.
    • (2003) Hum Mol Genet , vol.12 , pp. 2599-2608
    • Pankratz, N.1    Nichols, W.C.2    Uniacke, S.K.3
  • 47
    • 0034718422 scopus 로고    scopus 로고
    • [18 F]-dopa PET study in patients with juvenile-onset PD and parkin gene mutations
    • Broussolle E, Lucking CB, Ginovart N, et al. [18 F]-dopa PET study in patients with juvenile-onset PD and parkin gene mutations. Neurology 2000;55:877-879.
    • (2000) Neurology , vol.55 , pp. 877-879
    • Broussolle, E.1    Lucking, C.B.2    Ginovart, N.3
  • 48
    • 0036787533 scopus 로고    scopus 로고
    • Progression of nigrostriatal dysfunction in a parkin kindred: An [18F]dopa PET and clinical study
    • Khan NL, Brooks DJ, Pavese N, et al. Progression of nigrostriatal dysfunction in a parkin kindred: an [18F]dopa PET and clinical study. Brain 2002;125:2248-2256.
    • (2002) Brain , vol.125 , pp. 2248-2256
    • Khan, N.L.1    Brooks, D.J.2    Pavese, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.