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Volumn 258, Issue 12, 2011, Pages 2260-2267

Phenotype analysis in patients with early onset Parkinson's disease with and without parkin mutations

Author keywords

Genetics; Movement disorders; Neurogenetics; Parkinson's disease

Indexed keywords

LEVODOPA; PARKIN;

EID: 83255187845     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6110-1     Document Type: Article
Times cited : (26)

References (43)
  • 1
    • 33644971837 scopus 로고    scopus 로고
    • Epidemiological, clinical, and genetic characteristics of early-onset parkinsonism
    • Schrag A, Schott JM (2006) Epidemiological, clinical, and genetic characteristics of early-onset parkinsonism. Lancet Neurol 5:355-363
    • (2006) Lancet Neurol , vol.5 , pp. 355-363
    • Schrag, A.1    Schott, J.M.2
  • 6
    • 33645160640 scopus 로고    scopus 로고
    • The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor
    • Goldwurm S, Di Fonzo A, Simons EJ, Rohé CF, Zini M, Canesi M et al (2005) The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor. J Med Genet 42:e65
    • (2005) J Med Genet , vol.42
    • Goldwurm, S.1    Di Fonzo, A.2    Simons, E.J.3    Rohé, C.F.4    Zini, M.5    Canesi, M.6
  • 10
    • 61649104022 scopus 로고    scopus 로고
    • Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease
    • Macedo MG, Verbaan D, Fang Y, van Rooden SM, Visser M, Anar B et al (2009) Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease. Mov Disord 24:196-203
    • (2009) Mov Disord , vol.24 , pp. 196-203
    • MacEdo, M.G.1    Verbaan, D.2    Fang, Y.3    Van Rooden, S.M.4    Visser, M.5    Anar, B.6
  • 12
    • 0033849550 scopus 로고    scopus 로고
    • Autosomal recessive early-onset parkinsonism with diurnal fluctuation: Clinicopathologic characteristics and molecular genetic identification
    • PII S0387760400001303
    • Yamamura Y, Hattori N, Matsumine H, Kuzuhara S, Mizuno Y (2000) Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification. Brain Dev 22(suppl 1):S87-S91 (Pubitemid 30662466)
    • (2000) Brain and Development , vol.22 , Issue.SUPPL. 1
    • Yamamura, Y.1    Hattori, N.2    Matsumine, H.3    Kuzuhara, S.4    Mizuno, Y.5
  • 15
    • 60549116319 scopus 로고    scopus 로고
    • A multidisciplinary study of patients with early-onset PD with and without parkin mutations
    • Lohmann E, Thobois S, Lesage S, Broussolle E, du Montcel ST, Ribeiro MJ et al (2009) A multidisciplinary study of patients with early-onset PD with and without parkin mutations. Neurology 72:110-116
    • (2009) Neurology , vol.72 , pp. 110-116
    • Lohmann, E.1    Thobois, S.2    Lesage, S.3    Broussolle, E.4    Du Montcel, S.T.5    Ribeiro, M.J.6
  • 17
    • 33747187203 scopus 로고    scopus 로고
    • Clinical features and gene analysis in Korean patients with early-onset Parkinson disease
    • DOI 10.1001/archneur.63.8.1170
    • Chung EJ, Ki CS, Lee WY, Kim IS, Kim JY (2006) Clinical features and gene analysis in Korean patients with early-onset Parkinson disease. Arch Neurol 63:1170-1174 (Pubitemid 44232327)
    • (2006) Archives of Neurology , vol.63 , Issue.8 , pp. 1170-1174
    • Chung, E.J.1    Ki, C.-S.2    Lee, W.Y.3    Kim, I.-S.4    Kim, J.-Y.5
  • 18
    • 52649172690 scopus 로고    scopus 로고
    • Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease
    • Choi JM, Woo MS, Ma HI, Kang SY, Sung YH, Yong SW et al (2008) Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. Neurogenetics 9:263-269
    • (2008) Neurogenetics , vol.9 , pp. 263-269
    • Choi, J.M.1    Woo, M.S.2    Ma, H.I.3    Kang, S.Y.4    Sung, Y.H.5    Yong, S.W.6
  • 19
    • 77953633735 scopus 로고    scopus 로고
    • Predictors of parkin mutations in earlyonset Parkinson disease: The consortium on risk for early-onset Parkinson disease study
    • Marder KS, Tang MX, Mejia-Santana H, Rosado L, Louis ED, Comella CL et al (2010) Predictors of parkin mutations in earlyonset Parkinson disease: the consortium on risk for early-onset Parkinson disease study. Arch Neurol 67:731-738
    • (2010) Arch Neurol , vol.67 , pp. 731-738
    • Marder, K.S.1    Tang, M.X.2    Mejia-Santana, H.3    Rosado, L.4    Louis, E.D.5    Comella, C.L.6
  • 20
    • 0026514953 scopus 로고
    • Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinicopathological study of 100 cases
    • Hughes AJ, Daniel SE, Kilford L, Lees AJ (1992) Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinicopathological study of 100 cases. J Neurol Neurosurg Psychiatry 55:181-184
    • (1992) J Neurol Neurosurg Psychiatry , vol.55 , pp. 181-184
    • Hughes, A.J.1    Daniel, S.E.2    Kilford, L.3    Lees, A.J.4
  • 21
    • 0014082977 scopus 로고
    • Parkinsonism: Onset, progression and mortality
    • Hoehn MM, Yahr MD (1967) Parkinsonism: onset, progression and mortality. Neurology 17:427-442
    • (1967) Neurology , vol.17 , pp. 427-442
    • Hoehn, M.M.1    Yahr, M.D.2
  • 22
    • 67349168729 scopus 로고    scopus 로고
    • Chronic subthalamic deep brain stimulation improves pain in Parkinson disease
    • Kim HJ, Paek SH, Kim JY, Lee JY, Lim YH, Kim MR et al (2008) Chronic subthalamic deep brain stimulation improves pain in Parkinson disease. J Neurol 255:1889-1894
    • (2008) J Neurol , vol.255 , pp. 1889-1894
    • Kim, H.J.1    Paek, S.H.2    Kim, J.Y.3    Lee, J.Y.4    Lim, Y.H.5    Kim, M.R.6
  • 26
    • 76849099237 scopus 로고    scopus 로고
    • Association between the dose of dopaminergic medication and the behavioral disturbances in Parkinson disease
    • Lee JY, Kim JM, Kim JW, Cho J, Lee WY, Kim HJ et al (2010) Association between the dose of dopaminergic medication and the behavioral disturbances in Parkinson disease. Parkinsonism Relat Disord 16:202-207
    • (2010) Parkinsonism Relat Disord , vol.16 , pp. 202-207
    • Lee, J.Y.1    Kim, J.M.2    Kim, J.W.3    Cho, J.4    Lee, W.Y.5    Kim, H.J.6
  • 27
    • 83255180034 scopus 로고    scopus 로고
    • Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease
    • (Epub ahead of print) doi:10.1111/j.1399-0004.2011.01693.x
    • Kim SY, Seong MW, Jeon BS, Kim SY, Ko HS, Kim JY, et al (2011) Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease. Clin Genet (Epub ahead of print) doi:10.1111/j.1399-0004.2011.01693.x
    • (2011) Clin Genet
    • Kim, S.Y.1    Seong, M.W.2    Jeon, B.S.3    Kim, S.Y.4    Ko, H.S.5    Kim, J.Y.6
  • 28
    • 37849012348 scopus 로고    scopus 로고
    • A-Synuclein gene duplication is present in sporadic Parkinson disease
    • Ahn TB, Kim SY, Kim JY, Park SS, Lee DS, Min HJ et al (2008) a-Synuclein gene duplication is present in sporadic Parkinson disease. Neurology 70:43-49
    • (2008) Neurology , vol.70 , pp. 43-49
    • Ahn, T.B.1    Kim, S.Y.2    Kim, J.Y.3    Park, S.S.4    Lee, D.S.5    Min, H.J.6
  • 29
    • 73449090031 scopus 로고    scopus 로고
    • The G2019S LRRK2 mutation is rare in Korean patients with Parkinson's disease and multiple system atrophy
    • Cho JW, Kim SY, Park SS, Jeon BS (2009) The G2019S LRRK2 mutation is rare in Korean patients with Parkinson's disease and multiple system atrophy. J Clin Neurol 5:29-32
    • (2009) J Clin Neurol , vol.5 , pp. 29-32
    • Cho, J.W.1    Kim, S.Y.2    Park, S.S.3    Jeon, B.S.4
  • 31
    • 67449136057 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism
    • Kim JY, Kim SY, Kim JM, Kim YK, Yoon KY, Kim JY et al (2009) Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism. Neurology 72:1385-1389
    • (2009) Neurology , vol.72 , pp. 1385-1389
    • Kim, J.Y.1    Kim, S.Y.2    Kim, J.M.3    Kim, Y.K.4    Yoon, K.Y.5    Kim, J.Y.6
  • 34
    • 0037648357 scopus 로고    scopus 로고
    • French Parkinson's disease genetics study group; European Consortium on Genetic Susceptibility in Parkinson's disease Parkin mutations are frequent in patients with isolated early-onset parkinsonism
    • Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S et al (2003) French Parkinson's disease genetics study group; European Consortium on Genetic Susceptibility in Parkinson's disease Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 126:1271-1278
    • (2003) Brain , vol.126 , pp. 1271-1278
    • Periquet, M.1    Latouche, M.2    Lohmann, E.3    Rawal, N.4    De Michele, G.5    Ricard, S.6
  • 35
    • 0015590978 scopus 로고
    • Paralysis agitans of early onset with marked diurnal fluctuation of symptoms
    • Yamamura Y, Sobue I, Ando K, Iida M, Yanagi T (1973) Paralysis agitans of early onset with marked diurnal fluctuation of symptoms. Neurology 23:239-244
    • (1973) Neurology , vol.23 , pp. 239-244
    • Yamamura, Y.1    Sobue, I.2    Ando, K.3    Iida, M.4    Yanagi, T.5
  • 37
    • 1842475898 scopus 로고    scopus 로고
    • Olfaction differentiates parkin disease from early-onset parkinsonism and Parkinson disease
    • Khan NL, Katzenschlager R, Watt H, Bhatia KP, Wood NW, Quinn N et al (2004) Olfaction differentiates parkin disease from early-onset parkinsonism and Parkinson disease. Neurology 62:1224-1226 (Pubitemid 38456528)
    • (2004) Neurology , vol.62 , Issue.7 , pp. 1224-1226
    • Khan, N.L.1    Katzenschlager, R.2    Watt, H.3    Bhatia, K.P.4    Wood, N.W.5    Quinn, N.6    Lees, A.J.7
  • 38
    • 63849215406 scopus 로고    scopus 로고
    • Is olfactory impairment in Parkinson disease related to phenotypic or genotypic characteristics?
    • Verbaan D, Boesveldt S, van Rooden SM, Visser M, Marinus J, Macedo MG et al (2008) Is olfactory impairment in Parkinson disease related to phenotypic or genotypic characteristics? Neurology 71:1877-1882
    • (2008) Neurology , vol.71 , pp. 1877-1882
    • Verbaan, D.1    Boesveldt, S.2    Van Rooden, S.M.3    Visser, M.4    Marinus, J.5    MacEdo, M.G.6
  • 42
    • 69949153066 scopus 로고    scopus 로고
    • PRIAMO study group The PRIAMO study: a multicenter assessment of nonmotor symptoms and their impact on quality of life in Parkinson's disease
    • Barone P, Antonini A, Colosimo C, Marconi R, Morgante L, Avarello TP et al (2009) PRIAMO study group The PRIAMO study: a multicenter assessment of nonmotor symptoms and their impact on quality of life in Parkinson's disease. Mov Disord 24:1641-1649
    • (2009) Mov Disord , vol.24 , pp. 1641-1649
    • Barone, P.1    Antonini, A.2    Colosimo, C.3    Marconi, R.4    Morgante, L.5    Avarello, T.P.6
  • 43
    • 77952157407 scopus 로고    scopus 로고
    • Impulse control disorders in Parkinson disease: A cross-sectional study of 3,090 patients
    • Weintraub D, Koester J, Potenza MN, Siderowf AD, Stacy M, Voon V et al (2010) Impulse control disorders in Parkinson disease: a cross-sectional study of 3,090 patients. Arch Neurol 67:589-595
    • (2010) Arch Neurol , vol.67 , pp. 589-595
    • Weintraub, D.1    Koester, J.2    Potenza, M.N.3    Siderowf, A.D.4    Stacy, M.5    Voon, V.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.