메뉴 건너뛰기




Volumn 24, Issue 1, 2009, Pages 104-108

Genotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonism

Author keywords

DJ 1; Early onset parkinsonism; PARKIN; Parkinson's disease; PINK1; Taiwanese

Indexed keywords

DJ 1 PROTEIN; LEVODOPA; PARKIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE INDUCED PROTEIN KINASE 1; PROTEIN KINASE; UNCLASSIFIED DRUG;

EID: 61449115021     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22093     Document Type: Article
Times cited : (30)

References (31)
  • 1
    • 33645116252 scopus 로고    scopus 로고
    • Genetics of Parkinson disease: Paradigm shifts and future prospects
    • Farrer MJ. Genetics of Parkinson disease: paradigm shifts and future prospects. Nat Rev Genet 2006;7:306-318.
    • (2006) Nat Rev Genet , vol.7 , pp. 306-318
    • Farrer, M.J.1
  • 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
    • 10744226640 scopus 로고    scopus 로고
    • DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease
    • Hedrich K, Djarmati A, Schafer N, et al. DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology 2004;62:389-394.
    • (2004) Neurology , vol.62 , pp. 389-394
    • Hedrich, K.1    Djarmati, A.2    Schafer, N.3
  • 4
    • 4444274910 scopus 로고    scopus 로고
    • PINK1 mutations are associated with sporadic early-onset parkinsonism
    • Valente EM, Salvi S, Ialongo T, et al. PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol 2004;56:336-341.
    • (2004) Ann Neurol , vol.56 , pp. 336-341
    • Valente, E.M.1    Salvi, S.2    Ialongo, T.3
  • 5
    • 2442668926 scopus 로고    scopus 로고
    • Hereditary early-onset Parkinson's disease caused by mutations in PINK1
    • 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.
    • (2004) Science , vol.304 , pp. 1158-1160
    • Valente, E.M.1    Abou-Sleiman, P.M.2    Caputo, V.3
  • 6
    • 0032937059 scopus 로고    scopus 로고
    • Diagnostic criteria for Parkinson disease
    • Gelb DJ, Oliver E, Gilman S. Diagnostic criteria for Parkinson disease. Arch Neurol 1999;56:33-39.
    • (1999) Arch Neurol , vol.56 , pp. 33-39
    • Gelb, D.J.1    Oliver, E.2    Gilman, S.3
  • 7
    • 4344684602 scopus 로고    scopus 로고
    • Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism
    • Lockhart PJ, Bounds R, Hulihan M, Kachergus J, et al. Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism. Mov Disord 2004;19:1065-1069.
    • (2004) Mov Disord , vol.19 , pp. 1065-1069
    • Lockhart, P.J.1    Bounds, R.2    Hulihan, M.3    Kachergus, J.4
  • 8
    • 18744377764 scopus 로고    scopus 로고
    • Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations
    • Wu RM, Shan DE, Sun CM, et al. Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations. Mov Disord 2002;17: 670-675.
    • (2002) Mov Disord , vol.17 , pp. 670-675
    • Wu, R.M.1    Shan, D.E.2    Sun, C.M.3
  • 9
    • 12144254582 scopus 로고    scopus 로고
    • Parkin mutations and early-onset Parkinsonism in a Taiwanese Cohort
    • Wu RM, Bounds R, Lincoln S, et al. Parkin mutations and early-onset Parkinsonism in a Taiwanese Cohort. Arch Neurol 2005; 62:82-87.
    • (2005) Arch Neurol , vol.62 , pp. 82-87
    • Wu, R.M.1    Bounds, R.2    Lincoln, S.3
  • 10
    • 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
  • 11
  • 12
    • 27244432742 scopus 로고    scopus 로고
    • PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism
    • Klein C, Djarmati A, Hedrich K, et al. PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. Eur J Hum Genet 2005;13:1086-1093.
    • (2005) Eur J Hum Genet , vol.13 , pp. 1086-1093
    • Klein, C.1    Djarmati, A.2    Hedrich, K.3
  • 13
    • 0033787310 scopus 로고    scopus 로고
    • Preliminary studies on parkin gene deletion at exons 1 to 6 in Chinese patients with praecox Parkinson's disease
    • Bia H, Shao M, Dong X, et al. Preliminary studies on parkin gene deletion at exons 1 to 6 in Chinese patients with praecox Parkinson's disease. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2000;17:323-325.
    • (2000) Zhonghua Yi Xue Yi Chuan Xue Za Zhi , vol.17 , pp. 323-325
    • Bia, H.1    Shao, M.2    Dong, X.3
  • 14
    • 33750362215 scopus 로고    scopus 로고
    • Genetic and DAT imaging studies of familial parkinsonism in a Taiwanese cohort
    • Lu CS, Chou YH, Weng YH, Chen RS. Genetic and DAT imaging studies of familial parkinsonism in a Taiwanese cohort. J Neural Transm Suppl 2006;90:235-240.
    • (2006) J Neural Transm Suppl , vol.90 , pp. 235-240
    • Lu, C.S.1    Chou, Y.H.2    Weng, Y.H.3    Chen, R.S.4
  • 15
    • 0037279773 scopus 로고    scopus 로고
    • Mutation screening and association analysis of the parkin gene in Parkinson's disease patients from South-West China
    • Peng R, Gou Y, Yuan Q, et al. Mutation screening and association analysis of the parkin gene in Parkinson's disease patients from South-West China. Eur Neurol 2003;49:85-89.
    • (2003) Eur Neurol , vol.49 , pp. 85-89
    • Peng, R.1    Gou, Y.2    Yuan, Q.3
  • 16
    • 33744976591 scopus 로고    scopus 로고
    • Analysis of the parkin gene deletion mutations in Chinese patients with Parkinson's disease
    • Tang B, Liu S, Yan X, et al. Analysis of the parkin gene deletion mutations in Chinese patients with Parkinson's disease. Zhonghua Nei Ke Za Zhi 2001;40:799-801.
    • (2001) Zhonghua Nei Ke Za Zhi , vol.40 , pp. 799-801
    • Tang, B.1    Liu, S.2    Yan, X.3
  • 18
    • 1842597742 scopus 로고    scopus 로고
    • Point mutation in the parkin gene on patients with Parkinson's disease
    • Wang T, Liang Z, Sun S, et al. Point mutation in the parkin gene on patients with Parkinson's disease. J Huazhong Univ Sci Technol Med Sci 2003;23:145-147.
    • (2003) J Huazhong Univ Sci Technol Med Sci , vol.23 , pp. 145-147
    • Wang, T.1    Liang, Z.2    Sun, S.3
  • 19
    • 0037388330 scopus 로고    scopus 로고
    • A novel point mutation in parkin gene was identified in an early-onset case of Parkinson's disease
    • Wang T, Liang Z, Sun S, et al. A novel point mutation in parkin gene was identified in an early-onset case of Parkinson's disease. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2003;20:111-113.
    • (2003) Zhonghua Yi Xue Yi Chuan Xue Za Zhi , vol.20 , pp. 111-113
    • Wang, T.1    Liang, Z.2    Sun, S.3
  • 20
    • 5644254800 scopus 로고    scopus 로고
    • PINK1 (PARK6) associated Parkinson disease in Ireland
    • Healy DG, bou-Sleiman PM, Gibson JM, et al. PINK1 (PARK6) associated Parkinson disease in Ireland. Neurology 2004;63: 1486-1488.
    • (2004) Neurology , vol.63 , pp. 1486-1488
    • Healy, D.G.1    bou-Sleiman, P.M.2    Gibson, J.M.3
  • 21
    • 4444269012 scopus 로고    scopus 로고
    • Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism
    • Rohe CF, Montagna P, Breedveld G, et al. Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. Ann Neurol 2004;56:427-431.
    • (2004) Ann Neurol , vol.56 , pp. 427-431
    • Rohe, C.F.1    Montagna, P.2    Breedveld, G.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;61:1898-1904.
    • (2004) Arch Neurol , vol.61 , pp. 1898-1904
    • Rogaeva, E.1    Johnson, J.2    Lang, A.E.3
  • 23
    • 33745845523 scopus 로고    scopus 로고
    • PINK1 mutations in sporadic early-onset Parkinson's disease
    • Tan EK, Yew K, Chua E, et al. PINK1 mutations in sporadic early-onset Parkinson's disease. Mov Disord 2006;21:789-793.
    • (2006) Mov Disord , vol.21 , pp. 789-793
    • Tan, E.K.1    Yew, K.2    Chua, E.3
  • 24
    • 30144445796 scopus 로고    scopus 로고
    • Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan 1
    • Fung HC, Chen CM, Hardy J, et al. Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan 1. Neurosci Lett 2006;394:33-36.
    • (2006) Neurosci Lett , vol.394 , pp. 33-36
    • Fung, H.C.1    Chen, C.M.2    Hardy, J.3
  • 25
    • 36148950600 scopus 로고    scopus 로고
    • PINK1 mutation in Taiwanese early-onset parkinsonism: Clinical, genetic, and dopamine transporter studies
    • Weng YH, Chou YH, Wu WS, et al. PINK1 mutation in Taiwanese early-onset parkinsonism: clinical, genetic, and dopamine transporter studies. J Neurol 2007;254:1347-1355.
    • (2007) J Neurol , vol.254 , pp. 1347-1355
    • Weng, Y.H.1    Chou, Y.H.2    Wu, W.S.3
  • 26
    • 33744760852 scopus 로고    scopus 로고
    • Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease
    • Tang B, Xiong H, Sun P, et al. Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease. Hum Mol Genet 2006;15:1816-1825.
    • (2006) Hum Mol Genet , vol.15 , pp. 1816-1825
    • Tang, B.1    Xiong, H.2    Sun, P.3
  • 27
    • 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
  • 28
    • 3342996696 scopus 로고    scopus 로고
    • parkin mutation analysis in clinic patients with early-onset Parkinson [corrected] disease
    • Poorkaj P, Nutt JG, James D, et al. parkin mutation analysis in clinic patients with early-onset Parkinson [corrected] disease. Am J Med Genet A 2004;129:44-50.
    • (2004) Am J Med Genet A , vol.129 , pp. 44-50
    • Poorkaj, P.1    Nutt, J.G.2    James, D.3
  • 29
    • 33845933480 scopus 로고    scopus 로고
    • Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism
    • Lesage S, Magali P, Lohmann E, et al. Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism. Hum Mutat 2007;28:27-32.
    • (2007) Hum Mutat , vol.28 , pp. 27-32
    • Lesage, S.1    Magali, P.2    Lohmann, E.3
  • 30
    • 33645728053 scopus 로고    scopus 로고
    • Case-control study of the parkin gene in early-onset Parkinson disease
    • Clark LN, Afridi S, Karlins E, et al. Case-control study of the parkin gene in early-onset Parkinson disease. Arch Neurol 2006;63:548-452.
    • (2006) Arch Neurol , vol.63 , pp. 548-452
    • Clark, L.N.1    Afridi, S.2    Karlins, E.3
  • 31
    • 33745099053 scopus 로고    scopus 로고
    • Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: Role of a single hit?
    • Hedrich K, Hagenah J, Djarmati A, et al. Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit? Arch Neurol 2006;63:833-838.
    • (2006) Arch Neurol , vol.63 , pp. 833-838
    • Hedrich, K.1    Hagenah, J.2    Djarmati, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.