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Volumn 18, Issue 9, 2003, Pages 1069-1072

Dopa-responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?

Author keywords

Dopa responsive dystonia; GTP cyclohydrolase 1; Parkin; Parkinsonism; Resting leg tremor

Indexed keywords

CARBIDOPA PLUS LEVODOPA; CLOMIFENE; CLONAZEPAM; DOPA; GABAPENTIN; GENOMIC DNA; GLUTAMIC ACID; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; LORAZEPAM; ORAL CONTRACEPTIVE AGENT; PARKIN; PRIMIDONE; PROFENAMINE; PROPRANOLOL; TRIHEXYPHENIDYL; VALINE;

EID: 0141502259     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (18)
  • 1
    • 0031943362 scopus 로고    scopus 로고
    • Gender-related penetrance and de novo GTP-cyclohydrolase 1 gene mutations in dopa-responsive dystonia
    • Furukawa Y, Lang AE, Trugman JM, et al. Gender-related penetrance and de novo GTP-cyclohydrolase 1 gene mutations in dopa-responsive dystonia. Neurology 1998;50:1015-1020.
    • (1998) Neurology , vol.50 , pp. 1015-1020
    • Furukawa, Y.1    Lang, A.E.2    Trugman, J.M.3
  • 2
    • 0033595566 scopus 로고    scopus 로고
    • Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
    • Furukawa Y, Nygaard TG, Gutlich M, et al. Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia. Neurology 1999;53:1032-1041.
    • (1999) Neurology , vol.53 , pp. 1032-1041
    • Furukawa, Y.1    Nygaard, T.G.2    Gutlich, M.3
  • 3
    • 0036523867 scopus 로고    scopus 로고
    • Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene
    • Pramstaller PP, Kis B, Eskelson C, et al. Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene. Mov Disord 2002;17:424-426.
    • (2002) Mov. Disord. , vol.17 , pp. 424-426
    • Pramstaller, P.P.1    Kis, B.2    Eskelson, C.3
  • 4
    • 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
  • 5
    • 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;44:935-941.
    • (1998) Ann. Neurol. , vol.44 , pp. 935-941
    • Hattori, N.1    Kitada, T.2    Matsumine, H.3
  • 6
    • 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
  • 8
    • 0029148315 scopus 로고
    • Homology cloning of GTP-cyclohydrolase I from various unrelated eukaryotes by reverse-transcription polymerase chain reaction using a general set of degenerate primers
    • Maier J, Witter K, Gutlich M, Ziegler I, Werner T, Ninnemann H. Homology cloning of GTP-cyclohydrolase I from various unrelated eukaryotes by reverse-transcription polymerase chain reaction using a general set of degenerate primers. Biochem Biophys Res Commun 1995;212:705-711.
    • (1995) Biochem. Biophys. Res. Commun. , vol.212 , pp. 705-711
    • Maier, J.1    Witter, K.2    Gutlich, M.3    Ziegler, I.4    Werner, T.5    Ninnemann, H.6
  • 9
    • 0026437419 scopus 로고
    • Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia
    • Nygaard TG, Takahashi H, Heiman GA, Snow BJ, Fahn S, Calne DB. Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. Ann Neurol 1992;32:603-608.
    • (1992) Ann. Neurol. , vol.32 , pp. 603-608
    • Nygaard, T.G.1    Takahashi, H.2    Heiman, G.A.3    Snow, B.J.4    Fahn, S.5    Calne, D.B.6
  • 10
    • 0025124542 scopus 로고
    • Dopa-responsive dystonia: The spectrum of clinical manifestations in a large North American family
    • Nygaard TG, Trugman JM, de Yebenes JG, Fahn S. Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology 1990;40:66-69.
    • (1990) Neurology , vol.40 , pp. 66-69
    • Nygaard, T.G.1    Trugman, J.M.2    de Yebenes, J.G.3    Fahn, S.4
  • 12
    • 0035936605 scopus 로고    scopus 로고
    • SPECT imaging of the dopamine transporter in juvenile-onset dystonia
    • O'Sullivan JD, Costa DC, Gacinovic S, Lees AJ. SPECT imaging of the dopamine transporter in juvenile-onset dystonia. Neurology 2001;56:266-267.
    • (2001) Neurology , vol.56 , pp. 266-267
    • O'Sullivan, J.D.1    Costa, D.C.2    Gacinovic, S.3    Lees, A.J.4
  • 13
    • 0036266154 scopus 로고    scopus 로고
    • Phenocopies in a large GCHI mutation positive family with dopa responsive dystonia: Confusing the picture?
    • Grimes DA, Barclay CL, Duff J, Furukawa Y, Lang AE. Phenocopies in a large GCHI mutation positive family with dopa responsive dystonia: confusing the picture? J Neurol Neurosurg Psychiatry 2002;72:801-804.
    • (2002) J. Neurol. Neurosurg. Psychiatry , vol.72 , pp. 801-804
    • Grimes, D.A.1    Barclay, C.L.2    Duff, J.3    Furukawa, Y.4    Lang, A.E.5
  • 14
    • 0345490853 scopus 로고    scopus 로고
    • A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe
    • French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease
    • Abbas N, Lucking CB, Ricard S, et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. Hum Mol Genet 1999;8:567-574.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 567-574
    • Abbas, N.1    Lucking, C.B.2    Ricard, S.3
  • 15
    • 0035126379 scopus 로고    scopus 로고
    • The parkin gene S/N167 polymorphism in Australian Parkinson's disease patients and controls
    • Mellick GD, Buchanan DD, Hattori N, et al. The parkin gene S/N167 polymorphism in Australian Parkinson's disease patients and controls. Parkinsonism Relat Disord 2001;7:89-91.
    • (2001) Parkinsonism Relat. Disord. , vol.7 , pp. 89-91
    • Mellick, G.D.1    Buchanan, D.D.2    Hattori, N.3
  • 16
    • 0032937416 scopus 로고    scopus 로고
    • Polymorphism in the parkin gene in sporadic Parkinson's disease
    • Wang M, Hattori N, Matsumine H, et al. Polymorphism in the parkin gene in sporadic Parkinson's disease. Ann Neurol 1999;45:655-658.
    • (1999) Ann. Neurol. , vol.45 , pp. 655-658
    • Wang, M.1    Hattori, N.2    Matsumine, H.3
  • 17
    • 0033946025 scopus 로고    scopus 로고
    • Association studies of Parkinson's disease and parkin polymorphisms
    • Klein C, Schumacher K, Jacobs H, et al. Association studies of Parkinson's disease and parkin polymorphisms. Ann Neurol 2000;48:126-127.
    • (2000) Ann. Neurol. , vol.48 , pp. 126-127
    • Klein, C.1    Schumacher, K.2    Jacobs, H.3
  • 18
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.