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Volumn 28, Issue 3, 2013, Pages 384-387

A case of α-synuclein gene duplication presenting with head-shaking movements

Author keywords

Alpha synuclein gene duplication; Familial Parkinson's disease; Head shaking; Leucine rich repeat kinase 2

Indexed keywords

ALPHA SYNUCLEIN; CARBIDOPA PLUS LEVODOPA; ENTACAPONE; LEUCINE RICH REPEAT KINASE 2; ROPINIROLE; ZONISAMIDE;

EID: 84875520893     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25243     Document Type: Article
Times cited : (16)

References (22)
  • 2
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in the α-synuclein gene identified in families with Parkinson's disease
    • Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the α-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
  • 3
    • 0242300619 scopus 로고    scopus 로고
    • α-Synuclein locus triplication cause Parkinson's disease
    • Singleton AB, Farrer M, Johnson J, et al. α-Synuclein locus triplication cause Parkinson's disease. Science 2003;302:841.
    • (2003) Science , vol.302 , pp. 841
    • Singleton, A.B.1    Farrer, M.2    Johnson, J.3
  • 4
    • 42249115274 scopus 로고    scopus 로고
    • Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia
    • Ikeuchi T, Kakita A, Shiga A, et al. Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia. Arch Neurol 2008;65:514-519.
    • (2008) Arch Neurol , vol.65 , pp. 514-519
    • Ikeuchi, T.1    Kakita, A.2    Shiga, A.3
  • 5
    • 15144345616 scopus 로고    scopus 로고
    • Hereditary form of parkinsonism-dementia
    • Muenter MD, Fomo LS, Homykiewicz O, et al. Hereditary form of parkinsonism-dementia. Ann Neurol 1998;43:768-781.
    • (1998) Ann Neurol , vol.43 , pp. 768-781
    • Muenter, M.D.1    Fomo, L.S.2    Homykiewicz, O.3
  • 6
    • 32044453611 scopus 로고    scopus 로고
    • Clinical heterogeneity of α-synuclein gene duplication in Parkinson's disease
    • Nishioka K, Hayashi D, Farrer MJ, et al. Clinical heterogeneity of α-synuclein gene duplication in Parkinson's disease. Ann Neurol 2006;59:298-309.
    • (2006) Ann Neurol , vol.59 , pp. 298-309
    • Nishioka, K.1    Hayashi, D.2    Farrer, M.J.3
  • 7
    • 20444420103 scopus 로고    scopus 로고
    • An LRRK2 mutation as a cause for the parkinsonism in the original Park8 family
    • Funayama M, Hasegawa K, Ohta E, et al. An LRRK2 mutation as a cause for the parkinsonism in the original Park8 family. Ann Neurol 2005;57:918-921.
    • (2005) Ann Neurol , vol.57 , pp. 918-921
    • Funayama, M.1    Hasegawa, K.2    Ohta, E.3
  • 8
    • 33847751421 scopus 로고    scopus 로고
    • Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families
    • Ishihara L, Gibson RA, Warren L, et al. Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families. Mov Disord 2007;22:55-61.
    • (2007) Mov Disord , vol.22 , pp. 55-61
    • Ishihara, L.1    Gibson, R.A.2    Warren, L.3
  • 9
    • 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
  • 10
    • 33750725402 scopus 로고    scopus 로고
    • Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2
    • Dächsel JC, Mata IF, Ross OA, et al. Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2. Neurosci Lett 2006;410:80-84.
    • (2006) Neurosci Lett , vol.410 , pp. 80-84
    • Dächsel, J.C.1    Mata, I.F.2    Ross, O.A.3
  • 11
    • 33847226901 scopus 로고    scopus 로고
    • Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population
    • Funayama M, Li Y, Tomiyama H, et al. Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population. Neuroreport 2007;18:273-275.
    • (2007) Neuroreport , vol.18 , pp. 273-275
    • Funayama, M.1    Li, Y.2    Tomiyama, H.3
  • 12
    • 80052967403 scopus 로고    scopus 로고
    • Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study
    • Ross OA, Soto-Ortolaza AI, Heckman MG, et al. Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. 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
  • 13
    • 50849128824 scopus 로고    scopus 로고
    • The basal ganglia and cerebellum interact in the expression of dystonic movement
    • Neychev VK, Fan X, Mitev VI, et al. The basal ganglia and cerebellum interact in the expression of dystonic movement. Brain 2008;131:2499-2509.
    • (2008) Brain , vol.131 , pp. 2499-2509
    • Neychev, V.K.1    Fan, X.2    Mitev, V.I.3
  • 14
    • 68549092937 scopus 로고    scopus 로고
    • Cerebellothalamocortical connectivity regulates penetrance in dystonia
    • Argyelan M, Carbon M, Niethammer M, et al. Cerebellothalamocortical connectivity regulates penetrance in dystonia. J Neurosci 2009;29:9740-9747.
    • (2009) J Neurosci , vol.29 , pp. 9740-9747
    • Argyelan, M.1    Carbon, M.2    Niethammer, M.3
  • 15
    • 19544377012 scopus 로고    scopus 로고
    • Voxel-based morphometry to discriminate early Alzheimer's disease from controls
    • Hirata Y, Matsuda H, Nemoto K, et al. Voxel-based morphometry to discriminate early Alzheimer's disease from controls. Neurosci Lett 2005;382:269-274.
    • (2005) Neurosci Lett , vol.382 , pp. 269-274
    • Hirata, Y.1    Matsuda, H.2    Nemoto, K.3
  • 16
    • 4644236043 scopus 로고    scopus 로고
    • Causal relation between besynuclein gene duplication and familial Parkinson's disease
    • Ibáñez P, Bonnet A-M, Débarges B, et al. Causal relation between besynuclein gene duplication and familial Parkinson's disease. Lancet 2004;364:1169-1171.
    • (2004) Lancet , vol.364 , pp. 1169-1171
    • Ibáñez, P.1    Bonnet, A.-M.2    Débarges, B.3
  • 17
    • 4644290985 scopus 로고    scopus 로고
    • α-synuclein locus duplication as a cause of familial Parkinson's disease
    • Chartier-Harlin MC, Kachergus J, Roumier C, et al. α-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 2004;364:1167-1169.
    • (2004) Lancet , vol.364 , pp. 1167-1169
    • Chartier-Harlin, M.C.1    Kachergus, J.2    Roumier, C.3
  • 18
    • 54449084519 scopus 로고    scopus 로고
    • Prominent psychiatric symptoms and glucose hypometabolism in a family with a SNCA duplication
    • Uchiyama T, Ikeuchi T, Ouchi Y, et al. Prominent psychiatric symptoms and glucose hypometabolism in a family with a SNCA duplication. Neurology 2008;71:1289-1290.
    • (2008) Neurology , vol.71 , pp. 1289-1290
    • Uchiyama, T.1    Ikeuchi, T.2    Ouchi, Y.3
  • 19
    • 38149131788 scopus 로고    scopus 로고
    • Clinicopathologic study of a SNCA gene duplication patient with Parkinson's disease and dementia
    • Obi T, Nishioka K, Ross OA, et al. Clinicopathologic study of a SNCA gene duplication patient with Parkinson's disease and dementia. Neurology 2008;70:238-241.
    • (2008) Neurology , vol.70 , pp. 238-241
    • Obi, T.1    Nishioka, K.2    Ross, O.A.3
  • 20
    • 34147109175 scopus 로고    scopus 로고
    • Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication
    • Fuchs J, Nilsson C, Kachergus J, et al. Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. Neurology 2007;68:916-922.
    • (2007) Neurology , vol.68 , pp. 916-922
    • Fuchs, J.1    Nilsson, C.2    Kachergus, J.3
  • 21
    • 77951898652 scopus 로고    scopus 로고
    • Leucine-rich repeat kinase 2 induces alpha-synuclein expression via the extracellular signal-regulated kinase pathway
    • Carballo-Carbajal I, Weber-Endress S, Rovelli G, et al. Leucine-rich repeat kinase 2 induces alpha-synuclein expression via the extracellular signal-regulated kinase pathway. Cell Signal 2010;22:821-827.
    • (2010) Cell Signal , vol.22 , pp. 821-827
    • Carballo-Carbajal, I.1    Weber-Endress, S.2    Rovelli, G.3
  • 22
    • 72149087091 scopus 로고    scopus 로고
    • Leucine-rich repeat kinase 2 regulates the progression of neuropathology induced by Parkinson's-disease-related mutant alpha-synuclein
    • Lin X, Parisiadou L, Gu XL, et al. Leucine-rich repeat kinase 2 regulates the progression of neuropathology induced by Parkinson's-disease-related mutant alpha-synuclein. Neuron 2009;64:807-827.
    • (2009) Neuron , vol.64 , pp. 807-827
    • Lin, X.1    Parisiadou, L.2    Gu, X.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.