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Volumn , Issue , 2006, Pages 219-244

Dopa-responsive dystonia

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EID: 85057471053     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter
Times cited : (6)

References (140)
  • 2
    • 0028220629 scopus 로고
    • Dopa-responsive dystonia
    • Calne DB. Dopa-responsive dystonia. Ann Neurol 1994; 35: 381-382.
    • (1994) Ann Neurol , vol.35 , pp. 381-382
    • Calne, D.B.1
  • 3
    • 0000517582 scopus 로고
    • Childhood basal ganglia disease with remarkable response to Levodopa, hereditary basal ganglia disease with marked diurnal fluctuation (Japanese)
    • Segawa M, Ohmi K, Itoh S, et al. Childhood basal ganglia disease with remarkable response to Levodopa, hereditary basal ganglia disease with marked diurnal fluctuation (Japanese). Shinryo (Tokyo) 1971; 24: 667-672.
    • (1971) Shinryo (Tokyo) , vol.24 , pp. 667-672
    • Segawa, M.1    Ohmi, K.2    Itoh, S.3
  • 4
    • 0016913614 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation
    • Segawa M, Hosaka A, Miyagawa F, et al. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976; 14: 215-233.
    • (1976) Adv Neurol , vol.14 , pp. 215-233
    • Segawa, M.1    Hosaka, A.2    Miyagawa, F.3
  • 5
    • 0042372336 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation (HPD) (Japanese)
    • Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation (HPD) (Japanese). Adv Neurol Sci (Tokyo) 1981; 25: 73-81.
    • (1981) Adv Neurol Sci (Tokyo) , vol.25 , pp. 73-81
    • Segawa, M.1
  • 6
    • 0022480610 scopus 로고
    • Dopa-responsive progressive dystonia of childhood with fluctuations of symptoms-Segawa’s syndrome and possible variants
    • Deonna T. Dopa-responsive progressive dystonia of childhood with fluctuations of symptoms-Segawa’s syndrome and possible variants. Neuropediatrics 1986; 17: 81-85.
    • (1986) Neuropediatrics , vol.17 , pp. 81-85
    • Deonna, T.1
  • 7
    • 0041871359 scopus 로고
    • Intrafamilial and interfamilial variations of symptoms of Japanese hereditary progressive dystonia with marked diurnal fluctuation
    • Segawa M, ed, Carnforth: Parthenon
    • Nomura Y, Segawa M. Intrafamilial and interfamilial variations of symptoms of Japanese hereditary progressive dystonia with marked diurnal fluctuation. In: Segawa M, ed. Hereditary Progressive Dystonia with Marked Diurnal Fluctuation. Carnforth: Parthenon, 1993: 73-96.
    • (1993) Hereditary Progressive Dystonia with Marked Diurnal Fluctuation , pp. 73-96
    • Nomura, Y.1    Segawa, M.2
  • 8
    • 0030059804 scopus 로고    scopus 로고
    • Dopa responsive dystonia in British patients: New mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity
    • Bandmann O, Nygaard TG, Surtees R, et al. Dopa responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet 1996; 5: 403-406.
    • (1996) Hum Mol Genet , vol.5 , pp. 403-406
    • Bandmann, O.1    Nygaard, T.G.2    Surtees, R.3
  • 9
    • 0031784841 scopus 로고    scopus 로고
    • Dopa-responsive dystonia: A clinical and molecular genetic study
    • Bandmann O, Valene EM, Holmans P, et al. Dopa-responsive dystonia: a clinical and molecular genetic study. Ann Neurol 1998; 44: 649-656.
    • (1998) Ann Neurol , vol.44 , pp. 649-656
    • Bandmann, O.1    Valene, E.M.2    Holmans, P.3
  • 10
    • 0042868558 scopus 로고    scopus 로고
    • Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease)
    • Segawa M, Nomura Y, Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol 2003; 54: 32-45.
    • (2003) Ann Neurol , vol.54 , pp. 32-45
    • Segawa, M.1    Nomura, Y.2    Nishiyama, N.3
  • 11
    • 0041871361 scopus 로고    scopus 로고
    • A single gene for dystonia involves both or either of the two striatal pathway
    • Bicholson L, Baull R, eds, New York: Kluwer Academic/Plenum Publishers
    • Segawa M, Hoshino K, Hachimori K, et al. A single gene for dystonia involves both or either of the two striatal pathway. In: Bicholson L, Baull R, eds. The Basal Ganglia VI. New York: Kluwer Academic/Plenum Publishers, 2002: 155-163.
    • (2002) The Basal Ganglia VI , pp. 155-163
    • Segawa, M.1    Hoshino, K.2    Hachimori, K.3
  • 12
    • 0031926568 scopus 로고    scopus 로고
    • Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations
    • Furukawa Y, Kish SJ, Bebin EM, et al. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. Ann Neurol 1998; 44: 10-16.
    • (1998) Ann Neurol , vol.44 , pp. 10-16
    • Furukawa, Y.1    Kish, S.J.2    Bebin, E.M.3
  • 13
    • 0037159199 scopus 로고    scopus 로고
    • Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome
    • Leuzzi V, Carducci C, Carducci C, et al. Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. Neurology 2002; 59: 1241-1243.
    • (2002) Neurology , vol.59 , pp. 1241-1243
    • Leuzzi, V.1    Carducci, C.2    Carducci, C.3
  • 14
    • 0008563464 scopus 로고    scopus 로고
    • Diurnally fluctuating hereditary progressive dystonia
    • Vinken PJ, Bruyn GW, eds, Extrapyramidal Disorders. Amsterdam: Elsevier 491986
    • Segawa M, Nomura Y, Kase M. Diurnally fluctuating hereditary progressive dystonia. In: Vinken PJ, Bruyn GW, eds. Handbook of Clinical Neurology. Extrapyramidal Disorders. Vol. 5. Amsterdam: Elsevier, 491986: 529-539.
    • Handbook of Clinical Neurology , vol.5 , pp. 529-539
    • Segawa, M.1    Nomura, Y.2    Kase, M.3
  • 15
    • 0009585527 scopus 로고
    • Long-term effects of Levodopa on hereditary progressive dystonia with marked diurnal fluctuation
    • Berardelli A, Benecke R, Manfredi M, Marsden CD, eds, London, New York: Academic Press
    • Segawa M, Nomura Y, Yamashita S, et al. Long-term effects of Levodopa on hereditary progressive dystonia with marked diurnal fluctuation. In: Berardelli A, Benecke R, Manfredi M, Marsden CD, eds. Motor Disturbance II. London, New York: Academic Press, 1990: 305-318.
    • (1990) Motor Disturbance II , pp. 305-318
    • Segawa, M.1    Nomura, Y.2    Yamashita, S.3
  • 16
    • 0002486605 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation and dopa-responsive dystonia: Pathognomonic clinical features
    • Segawa M, Nomura Y, eds, Basel: Karger
    • Segawa M, Nomura Y. Hereditary progressive dystonia with marked diurnal fluctuation and dopa-responsive dystonia: Pathognomonic clinical features. In: Segawa M, Nomura Y, eds. Age-Related Dopamine-Dependent Disorders. Vol. 14. Basel: Karger, 1995: 10-24.
    • (1995) Age-Related Dopamine-Dependent Disorders , vol.14 , pp. 10-24
    • Segawa, M.1    Nomura, Y.2
  • 17
    • 0142135443 scopus 로고    scopus 로고
    • Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene?
    • Segawa M, Nomura Y, Yukishita S, et al. Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene? Adv Neurol 2004; 94: 217-223.
    • (2004) Adv Neurol , vol.94 , pp. 217-223
    • Segawa, M.1    Nomura, Y.2    Yukishita, S.3
  • 18
    • 7244251644 scopus 로고    scopus 로고
    • Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations
    • Furukawa Y, Filiano JJ, Kish SJ. Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations. Mov Disord 2004; 19: 1256-1258.
    • (2004) Mov Disord , vol.19 , pp. 1256-1258
    • Furukawa, Y.1    Filiano, J.J.2    Kish, S.J.3
  • 19
    • 0342866176 scopus 로고
    • Bromocriptine therapy in a case of hereditary progressive dystonia with marked diurnal fluctuation
    • Nomura K, Negoro T, Takesu E, et al. Bromocriptine therapy in a case of hereditary progressive dystonia with marked diurnal fluctuation. Brain Dev 1987; 9: 199.
    • (1987) Brain Dev , vol.9 , pp. 199
    • Nomura, K.1    Negoro, T.2    Takesu, E.3
  • 20
    • 0343736791 scopus 로고
    • Progressive dystonia with marked diurnal fluctuation and tetrahydrobiopterin therapy (Japanese)
    • Ibi T, Sahashi K, Watanabe K, et al. Progressive dystonia with marked diurnal fluctuation and tetrahydrobiopterin therapy (Japanese). Neurol Ther (Tokyo) 1991; 8: 71-75.
    • (1991) Neurol Ther (Tokyo) , vol.8 , pp. 71-75
    • Ibi, T.1    Sahashi, K.2    Watanabe, K.3
  • 21
    • 79954467535 scopus 로고
    • Involvement of serotonergic neurons in hereditary progressive dystonia; Clinical effects of tetrahydrobiopterin and 5-hydroxytryptophan (Japanese)
    • Ishida A, Takada G, Kobayashi Y, et al. Involvement of serotonergic neurons in hereditary progressive dystonia; Clinical effects of tetrahydrobiopterin and 5-hydroxytryptophan (Japanese). No-To-Hattatsu (Tokyo) 1988; 20: 196-199.
    • (1988) No-To-Hattatsu (Tokyo) , vol.20 , pp. 196-199
    • Ishida, A.1    Takada, G.2    Kobayashi, Y.3
  • 22
    • 60549087300 scopus 로고
    • Pterdine cofactor in dystonia: Pathogenic and therapeutic considerations
    • Le Witt PA, Miller LP, Newman RP, et al. Pterdine cofactor in dystonia: Pathogenic and therapeutic considerations. Neurology 1983; 33(Suppl 2): 161.
    • (1983) Neurology , vol.33 , pp. 161
    • Le Witt, P.A.1    Miller, L.P.2    Newman, R.P.3
  • 23
    • 0020685367 scopus 로고
    • Treatment of dystonia with tetrahydrobiopterin
    • Le Witt PA, Miller LP, Newman RP, et al. Treatment of dystonia with tetrahydrobiopterin. N Engl J Med 1983; 308: 157-158.
    • (1983) N Engl J Med , vol.308 , pp. 157-158
    • Le Witt, P.A.1    Miller, L.P.2    Newman, R.P.3
  • 24
    • 0022527119 scopus 로고
    • Tetrahydrobiopterin in dystonia: Identification of abnormal metabolism and therapeutic trials
    • Le Witt PA, Miller LP, Newman RP, et al. Tetrahydrobiopterin in dystonia: Identification of abnormal metabolism and therapeutic trials. Neurology 1986; 36: 760-764.
    • (1986) Neurology , vol.36 , pp. 760-764
    • Le Witt, P.A.1    Miller, L.P.2    Newman, R.P.3
  • 25
    • 0042873365 scopus 로고    scopus 로고
    • Pallidotomy and thalamotomy on a case with hereditary progressive dystonia with marked diurnal fluctuation
    • Segawa N, Nomura Y, Takita K, et al. Pallidotomy and thalamotomy on a case with hereditary progressive dystonia with marked diurnal fluctuation. Mov Disord 1998; 13(Suppl 2): S165.
    • (1998) Mov Disord , vol.13 , pp. S165
    • Segawa, N.1    Nomura, Y.2    Takita, K.3
  • 26
    • 0021152170 scopus 로고
    • Five cases of dystonia with marked diurnal fluctuation and special reference to homovanilic acid in CSF (Japanese)
    • Kumamoto I, Nomoto M, Yoshidome M, et al. Five cases of dystonia with marked diurnal fluctuation and special reference to homovanilic acid in CSF (Japanese). Clin Neurol (Tokyo) 1984; 24: 697-702.
    • (1984) Clin Neurol (Tokyo) , vol.24 , pp. 697-702
    • Kumamoto, I.1    Nomoto, M.2    Yoshidome, M.3
  • 27
    • 0023812070 scopus 로고
    • A study on catecholamine metabolites in CSF in a patient with progressive dystonia with marked diurnal fluctuation (Japanese)
    • Maekawa N, Hashimoto T, Sasaki M, et al. A study on catecholamine metabolites in CSF in a patient with progressive dystonia with marked diurnal fluctuation (Japanese). Clin Neurol (Tokyo) 1988; 28: 1206-1208.
    • (1988) Clin Neurol (Tokyo) , vol.28 , pp. 1206-1208
    • Maekawa, N.1    Hashimoto, T.2    Sasaki, M.3
  • 28
    • 0018080489 scopus 로고
    • Progressive dystonia with marked diurnal fluctuation
    • Ouvrie RA. Progressive dystonia with marked diurnal fluctuation. Ann Neurol 1978; 4: 412-417.
    • (1978) Ann Neurol , vol.4 , pp. 412-417
    • Ouvrie, R.A.1
  • 29
    • 0023030888 scopus 로고
    • Hereditary progressive dystonia-an observation of the catecholamine metabolism during Levodopa therapy in a nine-yearold girl (Japanese)
    • Shimoyamada Y, Yoshikawa A, Kashii H, et al. Hereditary progressive dystonia-an observation of the catecholamine metabolism during Levodopa therapy in a nine-yearold girl (Japanese). No-To-Hattatsu (Tokyo) 1986; 18: 505-509.
    • (1986) No-To-Hattatsu (Tokyo) , vol.18 , pp. 505-509
    • Shimoyamada, Y.1    Yoshikawa, A.2    Kashii, H.3
  • 30
    • 0023914805 scopus 로고
    • Dystonia with marked diurnal variation associated with bioperin deficiency
    • Fink JK, Barton N, Cohen W, et al. Dystonia with marked diurnal variation associated with bioperin deficiency. Neurology 1988; 38: 707-711.
    • (1988) Neurology , vol.38 , pp. 707-711
    • Fink, J.K.1    Barton, N.2    Cohen, W.3
  • 31
    • 0041370581 scopus 로고
    • Etiology and pteridine metabolism abnormality of hereditary progressive dystonia with marked diurnal fluctuation (HPD: Segawa disease)
    • Fujita S, Shintaku H. Etiology and pteridine metabolism abnormality of hereditary progressive dystonia with marked diurnal fluctuation (HPD: Segawa disease). Med J Kushiro City Hosp 1990; 2: 64-67.
    • (1990) Med J Kushiro City Hosp , vol.2 , pp. 64-67
    • Fujita, S.1    Shintaku, H.2
  • 32
    • 0027354028 scopus 로고
    • CSF biopterin levels and clinical features of patients with juvenile parkinsonism
    • Furukawa Y, Nishi K, Kondo T, et al. CSF biopterin levels and clinical features of patients with juvenile parkinsonism. Adv Neurol 1993; 60: 562-567.
    • (1993) Adv Neurol , vol.60 , pp. 562-567
    • Furukawa, Y.1    Nishi, K.2    Kondo, T.3
  • 33
    • 0343736767 scopus 로고
    • Fluorodopa PET scans of juvenile parkinsonism with prominent dystonia in relation to dopa-responsive dystonia
    • Segawa M, Nomura Y, eds, Basel: Karger
    • Takahashi H, Snow B, Nygaard T, et al. Fluorodopa PET scans of juvenile parkinsonism with prominent dystonia in relation to dopa-responsive dystonia. In: Segawa M, Nomura Y, eds. Age-Related Dopamine-Dependent Disorders. Basel: Karger, 1995: 86-94.
    • (1995) Age-Related Dopamine-Dependent Disorders , pp. 86-94
    • Takahashi, H.1    Snow, B.2    Nygaard, T.3
  • 34
    • 0028151448 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
    • Ichinose H, Ohye T, Takahashi E, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994; 8: 236-242.
    • (1994) Nat Genet , vol.8 , pp. 236-242
    • Ichinose, H.1    Ohye, T.2    Takahashi, E.3
  • 35
    • 0030898773 scopus 로고    scopus 로고
    • Oral phenylalanine loading in dopa responsive dystonia; a possible diagnostic test
    • Hyland K, Fryburg JS, Wilson WG. Oral phenylalanine loading in dopa responsive dystonia; a possible diagnostic test. Neurology 1997; 48: 1290-1297.
    • (1997) Neurology , vol.48 , pp. 1290-1297
    • Hyland, K.1    Fryburg, J.S.2    Wilson, W.G.3
  • 36
    • 0042873375 scopus 로고
    • Positron-emission tomography scanning in dopa-responsive dystonia, parkinsonism-dystonia, and young onset parkinsonism
    • Segawa M, ed, Carnforth: Parthenon
    • Snow BJ, Okada A, Martin WRW, et al. Positron-emission tomography scanning in dopa-responsive dystonia, parkinsonism-dystonia, and young onset parkinsonism. In: Segawa M, ed. Hereditary Progressive Dystonia with Marked Diurnal Fluctuation. Carnforth: Parthenon, 1993: 181-186.
    • (1993) Hereditary Progressive Dystonia with Marked Diurnal Fluctuation , pp. 181-186
    • Snow, B.J.1    Okada, A.2    Martin, W.R.W.3
  • 37
    • 0025892273 scopus 로고
    • Dopa-responsive dystonia: (F-18) Dopa positron emission tomography
    • Sawle GB, Lenders KL, Brooks DJ, et al. Dopa-responsive dystonia: (F-18) Dopa positron emission tomography. Ann Neurol 1991; 30: 24-30.
    • (1991) Ann Neurol , vol.30 , pp. 24-30
    • Sawle, G.B.1    Lenders, K.L.2    Brooks, D.J.3
  • 38
    • 79954548841 scopus 로고
    • Positron emission tomography studies of the dopaminergic and opioid function in dopa-responsive dystonia
    • Segawa M, Nomura YM, eds, Basel: Karger
    • Turjanski N, Weeks R, Sawle GV, et al. Positron emission tomography studies of the dopaminergic and opioid function in dopa-responsive dystonia. In: Segawa M, Nomura YM, eds. Age-Related Dopamine-Dependent Disorders. Basel: Karger, 1995: 77-86.
    • (1995) Age-Related Dopamine-Dependent Disorders , pp. 77-86
    • Turjanski, N.1    Weeks, R.2    Sawle, G.V.3
  • 39
    • 0027342931 scopus 로고
    • PET scan study on the dopaminergic system in a Japanese patient with hereditary progressive dystonia (Segawa’s disease): Case report
    • Okada A, Nakamura K, Snow BJ, et al. PET scan study on the dopaminergic system in a Japanese patient with hereditary progressive dystonia (Segawa’s disease): case report. Adv Neurol 1993; 60: 591-594.
    • (1993) Adv Neurol , vol.60 , pp. 591-594
    • Okada, A.1    Nakamura, K.2    Snow, B.J.3
  • 40
    • 0028300346 scopus 로고
    • Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for doparesponsive dystonia
    • Takahashi H, Levine RA, Galloway MP, et al. Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for doparesponsive dystonia. Ann Neurol 1994; 35: 354-356.
    • (1994) Ann Neurol , vol.35 , pp. 354-356
    • Takahashi, H.1    Levine, R.A.2    Galloway, M.P.3
  • 41
    • 0042372335 scopus 로고
    • Striatal dopamine D2 receptors in doparesponsive dystonia and Parkinson’s disease
    • Segawa M, Nomura Y, eds, Basel: Karger
    • Leenders KL, Antonini A, Meinck, et al. Striatal dopamine D2 receptors in doparesponsive dystonia and Parkinson’s disease. In: Segawa M, Nomura Y, eds. Age-Related Dopamine-Dependent Disorders. Basel: Karger, 1995: 95-100.
    • (1995) Age-Related Dopamine-Dependent Disorders , pp. 95-100
    • Leenders, K.L.1    Antonini, A.2    Meinck3
  • 42
    • 0031899547 scopus 로고    scopus 로고
    • Striatal D2 receptors in symptomatic and asymptomatic carriers of dopa-responsive dystonia measured with (11C) raclopride and positron-emission tomography
    • Kishore A, Nygaard TG, de la Fuente-Fernandez R, et al. Striatal D2 receptors in symptomatic and asymptomatic carriers of dopa-responsive dystonia measured with (11C) raclopride and positron-emission tomography. Neurology 1998; 50: 1028-1032.
    • (1998) Neurology , vol.50 , pp. 1028-1032
    • Kishore, A.1    Nygaard, T.G.2    de la Fuente-Fernandez, R.3
  • 43
    • 0031597417 scopus 로고
    • D2 receptor binding in dopa-responsive dystonia
    • Kunig G, Leenders KL, Antonini A, et al. D2 receptor binding in dopa-responsive dystonia. Ann Neurol 1988; 44: 758-762.
    • (1988) Ann Neurol , vol.44 , pp. 758-762
    • Kunig, G.1    Leenders, K.L.2    Antonini, A.3
  • 44
    • 15144343754 scopus 로고    scopus 로고
    • Dopamine transporter density measured by (123I) b-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia
    • Jeon BS, Jeong JM, Park SS, et al. Dopamine transporter density measured by (123I) b-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia. Ann Neurol 1998; 43: 792-800.
    • (1998) Ann Neurol , vol.43 , pp. 792-800
    • Jeon, B.S.1    Jeong, J.M.2    Park, S.S.3
  • 45
    • 0006799749 scopus 로고    scopus 로고
    • Roles of the basal ganglia and related structures in symptoms of dystonia
    • Carpenter MB, Jayaraman A, eds, New York: Kluwer Academic/Plenum Publishers
    • Segawa M, Nomura Y, Hikosaka O, et al. Roles of the basal ganglia and related structures in symptoms of dystonia. In: Carpenter MB, Jayaraman A, eds. The Basal Ganglia VI. New York: Kluwer Academic/Plenum Publishers, 2002: 489-504.
    • (2002) The Basal Ganglia VI , pp. 489-504
    • Segawa, M.1    Nomura, Y.2    Hikosaka, O.3
  • 46
    • 0023675161 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation: Consideration on its pathophysiology based on the characteristics of clinical and polysomnographical findings
    • Segawa M, Nomura Y, Tanaka S, et al. Hereditary progressive dystonia with marked diurnal fluctuation: Consideration on its pathophysiology based on the characteristics of clinical and polysomnographical findings. Adv Neurol 1988; 50: 367-376.
    • (1988) Adv Neurol , vol.50 , pp. 367-376
    • Segawa, M.1    Nomura, Y.2    Tanaka, S.3
  • 47
    • 0027343160 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation. Pathophysiological importance of the age of onset
    • Segawa M, Nomura Y. Hereditary progressive dystonia with marked diurnal fluctuation. Pathophysiological importance of the age of onset. Adv Neurol 1993; 60: 568-576.
    • (1993) Adv Neurol , vol.60 , pp. 568-576
    • Segawa, M.1    Nomura, Y.2
  • 48
    • 0006798972 scopus 로고
    • Rapid eye movements during stage REM are modulated by nigrostriatal dopamine (NS-DA) neuron?
    • Bernardi G, Carpenter MB, Di Chiara G, et al., eds, New York: Kluwer Academic/Plenum Publishers
    • Segawa M, Nomura Y. Rapid eye movements during stage REM are modulated by nigrostriatal dopamine (NS-DA) neuron? In: Bernardi G, Carpenter MB, Di Chiara G, et al., eds The Basal Ganglia III. New York: Kluwer Academic/Plenum Publishers, 1991: 663-671.
    • (1991) The Basal Ganglia III , pp. 663-671
    • Segawa, M.1    Nomura, Y.2
  • 49
    • 0024605307 scopus 로고
    • Functional properties of monkey caudate neurons. I. Activities related to saccadic eye movements
    • Hikosaka O, Sakamoto M, Usui S. Functional properties of monkey caudate neurons. I. Activities related to saccadic eye movements. J Neurophysiol 1989; 61: 780-798.
    • (1989) J Neurophysiol , vol.61 , pp. 780-798
    • Hikosaka, O.1    Sakamoto, M.2    Usui, S.3
  • 50
    • 0343170710 scopus 로고
    • Deficits in saccadic eye movements in hereditary progressive dystonia with marked diurnal fluctuation
    • Segawa M, ed, Carnforth: Parthenon
    • Hikosaka O, Fukuda H, Kato M, et al. Deficits in saccadic eye movements in hereditary progressive dystonia with marked diurnal fluctuation. In: Segawa M, ed. Hereditary Progressive Dystonia with Marked Diurnal Fluctation. Carnforth: Parthenon, 1993: 159-177.
    • (1993) Hereditary Progressive Dystonia with Marked Diurnal Fluctation , pp. 159-177
    • Hikosaka, O.1    Fukuda, H.2    Kato, M.3
  • 51
    • 0024342999 scopus 로고
    • Motor control in child hood onset dopa-responsive dystonia (Segawa syndrome)
    • Muller K, Homberg V, Lenard HG. Motor control in child hood onset dopa-responsive dystonia (Segawa syndrome). Neuropediatrics 1989; 20: 185-191.
    • (1989) Neuropediatrics , vol.20 , pp. 185-191
    • Muller, K.1    Homberg, V.2    Lenard, H.G.3
  • 52
    • 0028221755 scopus 로고
    • Dopa-responsive dystonia: Pathological and biochemical observations in one case
    • Rajput AH, Gibb WRG, Zhong XH, et al. Dopa-responsive dystonia: pathological and biochemical observations in one case. Ann Neurol 1994; 35: 396-402.
    • (1994) Ann Neurol , vol.35 , pp. 396-402
    • Rajput, A.H.1    Gibb, W.R.G.2    Zhong, X.H.3
  • 53
    • 0003070290 scopus 로고
    • Striatal dopamine in dopa-responsive dystonia: Comparison with idiopathic Parkinson’s disease and other dopamine-dependent disorders
    • Segawa M, Nomura YM, eds, Basel: Karger
    • Hornykiewicz O. Striatal dopamine in dopa-responsive dystonia: Comparison with idiopathic Parkinson’s disease and other dopamine-dependent disorders. In: Segawa M, Nomura YM, eds. Age-Related Dopamine-Dependent Disorders. Basel: Karger, 1995: 101-108.
    • (1995) Age-Related Dopamine-Dependent Disorders , pp. 101-108
    • Hornykiewicz, O.1
  • 54
    • 0029931119 scopus 로고    scopus 로고
    • GTP-cyclohydrolase I gene mutations in hereditary progressive and dopa responsive dystonia
    • Furukawa Y, Shimadzu M, Rajput AH, et al. GTP-cyclohydrolase I gene mutations in hereditary progressive and dopa responsive dystonia. Ann Neurol 1996; 39: 609-617.
    • (1996) Ann Neurol , vol.39 , pp. 609-617
    • Furukawa, Y.1    Shimadzu, M.2    Rajput, A.H.3
  • 55
    • 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
  • 56
    • 0036225503 scopus 로고    scopus 로고
    • Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia
    • Furukawa Y, Kapatos G, Haycock JW, et al. Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia. Ann Neurol 2002; 51: 637-641.
    • (2002) Ann Neurol , vol.51 , pp. 637-641
    • Furukawa, Y.1    Kapatos, G.2    Haycock, J.W.3
  • 57
    • 0027377709 scopus 로고
    • Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q
    • Nygaad TG, Wihelmsen KC, Risch NJ, et al. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nat Genet 1993; 5: 386-391.
    • (1993) Nat Genet , vol.5 , pp. 386-391
    • Nygaad, T.G.1    Wihelmsen, K.C.2    Risch, N.J.3
  • 58
    • 0033844124 scopus 로고    scopus 로고
    • Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia
    • Nishiyama N, Yukishita S, Hagiwara S, et al. Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia. Brain Dev 2000; 22: 102-106.
    • (2000) Brain Dev , vol.22 , pp. 102-106
    • Nishiyama, N.1    Yukishita, S.2    Hagiwara, S.3
  • 59
    • 0029162075 scopus 로고
    • Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia/dopa responsive dystonia
    • Hirano M, Tamura Y, Nagai Y, et al. Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia/dopa responsive dystonia. Biochem Biphys Res Commun 1995; 213: 645-646.
    • (1995) Biochem Biphys Res Commun , vol.213 , pp. 645-646
    • Hirano, M.1    Tamura, Y.2    Nagai, Y.3
  • 60
    • 0029829711 scopus 로고    scopus 로고
    • Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset
    • Hirano M, Tamaru Y, Ito H, et al. Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset. Ann Neurol 1996; 40: 796-798.
    • (1996) Ann Neurol , vol.40 , pp. 796-798
    • Hirano, M.1    Tamaru, Y.2    Ito, H.3
  • 61
    • 0027942145 scopus 로고
    • Dopa-responsive dystonia stimulating cerebral palsy
    • Nygaad TG, Waran SP, Levine RA, et al. Dopa-responsive dystonia stimulating cerebral palsy. Pediatr Neurol 1994; 44: 236-240.
    • (1994) Pediatr Neurol , vol.44 , pp. 236-240
    • Nygaad, T.G.1    Waran, S.P.2    Levine, R.A.3
  • 62
    • 0032731974 scopus 로고    scopus 로고
    • Dopa-responsive dystonia: Recent advances and remaining issues to be addressed
    • Furukawa Y, Kish SJ. Dopa-responsive dystonia: recent advances and remaining issues to be addressed. Mov Disord 1999; 14: 709-715.
    • (1999) Mov Disord , vol.14 , pp. 709-715
    • Furukawa, Y.1    Kish, S.J.2
  • 63
    • 0029093393 scopus 로고
    • GTP chclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation
    • Ichinose H, Ohye T, Segawa M, et al. GTP chclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. Neurosci Lett 1995; 196: 5-8.
    • (1995) Neurosci Lett , vol.196 , pp. 5-8
    • Ichinose, H.1    Ohye, T.2    Segawa, M.3
  • 64
    • 18744432269 scopus 로고    scopus 로고
    • Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene
    • Furukawa Y, Guttman M, Sparagana SP, et al. Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene. Ann Neurol 2000; 47: 517-520.
    • (2000) Ann Neurol , vol.47 , pp. 517-520
    • Furukawa, Y.1    Guttman, M.2    Sparagana, S.P.3
  • 65
    • 0031689897 scopus 로고    scopus 로고
    • Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia
    • Hirano M, Yanagihara T, Ueno S. Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia. Ann Neurol 1998; 44: 365-371.
    • (1998) Ann Neurol , vol.44 , pp. 365-371
    • Hirano, M.1    Yanagihara, T.2    Ueno, S.3
  • 66
    • 0033801786 scopus 로고    scopus 로고
    • Dopa-responsive dystonia is induced by a dominantnegative mechanism
    • Hwu WL, Chiou YW, Lai SY, et al. Dopa-responsive dystonia is induced by a dominantnegative mechanism. Ann Neurol 2000; 48: 609-613.
    • (2000) Ann Neurol , vol.48 , pp. 609-613
    • Hwu, W.L.1    Chiou, Y.W.2    Lai, S.Y.3
  • 67
    • 0032707912 scopus 로고    scopus 로고
    • Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: Relationship to etiology of dopa-responsive dystonia
    • Suzuki T, Ohye T, Inagaki H, et al. Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia. J Neurochem 1999; 73: 2510-2516.
    • (1999) J Neurochem , vol.73 , pp. 2510-2516
    • Suzuki, T.1    Ohye, T.2    Inagaki, H.3
  • 68
    • 0033839889 scopus 로고    scopus 로고
    • Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia
    • Ueno S, Hirano M. Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia. Brain Dev 2000; 22(Suppl 1): S111-S114.
    • (2000) Brain Dev , vol.22 , pp. S111-S114
    • Ueno, S.1    Hirano, M.2
  • 69
    • 0032926746 scopus 로고    scopus 로고
    • GTP cyclohydrolase I gene expression in the brains of male and female hph-1 mice
    • Shimoji M, Hirayama K, Hyland K, et al. GTP cyclohydrolase I gene expression in the brains of male and female hph-1 mice. J Neurochem 1999; 72: 757-764.
    • (1999) J Neurochem , vol.72 , pp. 757-764
    • Shimoji, M.1    Hirayama, K.2    Hyland, K.3
  • 70
    • 0026448115 scopus 로고
    • "7-tetrahydrobiopterin,” a naturally occurring analogue of tetrahydrobiopterin, is a cofactor for and a potential inhibitor of the aromatic amino acid hydroxylases
    • Davis MD, Ribeiro P, Tipper J, et al. "7-tetrahydrobiopterin,” a naturally occurring analogue of tetrahydrobiopterin, is a cofactor for and a potential inhibitor of the aromatic amino acid hydroxylases. Proc Natl Acad Sci U S A 1992; 89: 10109-10113.
    • (1992) Proc Natl Acad Sci U S A , vol.89 , pp. 10109-10113
    • Davis, M.D.1    Ribeiro, P.2    Tipper, J.3
  • 71
    • 0002322077 scopus 로고
    • Some characteristics of brain tyrosine hydroxylase
    • Mandel J, ed, New York, London: Plenum
    • McGeer EG, McGeer PL. Some characteristics of brain tyrosine hydroxylase. In: Mandel J, ed. New Concepts in Neurotransmitter Regulation. New York, London: Plenum, 1973: 53-68.
    • (1973) New Concepts in Neurotransmitter Regulation , pp. 53-68
    • McGeer, E.G.1    McGeer, P.L.2
  • 72
    • 0020698120 scopus 로고
    • Behavioral correlates of dopaminergic unit activity in freely moving cats
    • Steinfels FF, Heym J, Strecker R, et al. Behavioral correlates of dopaminergic unit activity in freely moving cats. Brain Res 1983; 25: 217-228.
    • (1983) Brain Res , vol.25 , pp. 217-228
    • Steinfels, F.F.1    Heym, J.2    Strecker, R.3
  • 73
    • 0034737398 scopus 로고    scopus 로고
    • Normal values and age-dependent changes in GTP cyclohydrolase I activity in stimulated mononuclear blood cells measured by highperformance liquid chromatography
    • Hibiya M, Ichinose H, Ozaki N, et al. Normal values and age-dependent changes in GTP cyclohydrolase I activity in stimulated mononuclear blood cells measured by highperformance liquid chromatography. J Chromatogr B Biomed Sci Appl 2000; 740: 35-42.
    • (2000) J Chromatogr B Biomed Sci Appl , vol.740 , pp. 35-42
    • Hibiya, M.1    Ichinose, H.2    Ozaki, N.3
  • 74
    • 0031784091 scopus 로고    scopus 로고
    • Influence of development and aging on brain biopterin: Implications for dopa-responsive dystonia onset
    • Furukawa Y, Kish SJ. Influence of development and aging on brain biopterin: implications for dopa-responsive dystonia onset. Neurology 1998; 51: 632-634.
    • (1998) Neurology , vol.51 , pp. 632-634
    • Furukawa, Y.1    Kish, S.J.2
  • 75
    • 0028262453 scopus 로고
    • Early diagnosis of 6-pyruvoyltetrahydropterin synthase deficiency
    • Shintaku H. Early diagnosis of 6-pyruvoyltetrahydropterin synthase deficiency. Pteridines 1994; 5: 18-27.
    • (1994) Pteridines , vol.5 , pp. 18-27
    • Shintaku, H.1
  • 76
    • 0011798071 scopus 로고
    • Histochemically distinct compartments in the striatum of human, monkey and cat demonstrated by acetylthiocholinesterase staining
    • Graybiel AM, Ragsdale CW Jr. Histochemically distinct compartments in the striatum of human, monkey and cat demonstrated by acetylthiocholinesterase staining. Proc Natl Acad Sci 1978; 75: 5723-5726.
    • (1978) Proc Natl Acad Sci , vol.75 , pp. 5723-5726
    • Graybiel, A.M.1    Ragsdale, C.W.2
  • 77
    • 0041370580 scopus 로고    scopus 로고
    • Selective pathology, disease pathogenesis and function in the basal ganglia
    • Kimura J, Shibasaki H, eds, Amsterdam: Elsevier
    • Gibb WRG. Selective pathology, disease pathogenesis and function in the basal ganglia. In: Kimura J, Shibasaki H, eds. Recent Advances in Clinical Neurophysiology. Amsterdam: Elsevier, 1996: 1009-1015.
    • (1996) Recent Advances in Clinical Neurophysiology , pp. 1009-1015
    • Gibb, W.R.G.1
  • 78
    • 0033844266 scopus 로고    scopus 로고
    • Development of the nigrostriatal dopamine neuron and the pathways in the basal ganglia
    • Segawa M. Development of the nigrostriatal dopamine neuron and the pathways in the basal ganglia. Brain Dev 2000; 22: 1-4.
    • (2000) Brain Dev , vol.22 , pp. 1-4
    • Segawa, M.1
  • 79
    • 0028788794 scopus 로고
    • Ontogenic development of dopamine D4 receptor in rat brain
    • Nair VD, Mishra RK. Ontogenic development of dopamine D4 receptor in rat brain. Brain Res Dev Brain Res 1995; 90: 180-183.
    • (1995) Brain Res Dev Brain Res , vol.90 , pp. 180-183
    • Nair, V.D.1    Mishra, R.K.2
  • 80
    • 0030003650 scopus 로고    scopus 로고
    • Apomorphine and dopamine D receptor agonists increase the firing rates of subthalamic nucleus neurons
    • Kreiss DS, Anderson LA, Waters JR. Apomorphine and dopamine D receptor agonists increase the firing rates of subthalamic nucleus neurons. Neuroscience 1996; 72: 863-876.
    • (1996) Neuroscience , vol.72 , pp. 863-876
    • Kreiss, D.S.1    Anderson, L.A.2    Waters, J.R.3
  • 81
    • 16944363838 scopus 로고    scopus 로고
    • The response of subthalamic nucleus neurons to dopamine receptor stimulation in a rodent model of Parkinson’s disease
    • Kreiss DS, Mastropietro CW, Rawji SS, et al. The response of subthalamic nucleus neurons to dopamine receptor stimulation in a rodent model of Parkinson’s disease. J Neurosci 1997; 17: 6807-6819.
    • (1997) J Neurosci , vol.17 , pp. 6807-6819
    • Kreiss, D.S.1    Mastropietro, C.W.2    Rawji, S.S.3
  • 82
    • 0033839130 scopus 로고    scopus 로고
    • Two phenotypes and anticipation observed in Japanese cases with early-onset torsion dystonia (DYT 1)
    • Nomura Y, Ikeuchi T, Tsuji S, et al. Two phenotypes and anticipation observed in Japanese cases with early-onset torsion dystonia (DYT 1). Brain Dev 2000; 22: 92-101.
    • (2000) Brain Dev , vol.22 , pp. 92-101
    • Nomura, Y.1    Ikeuchi, T.2    Tsuji, S.3
  • 83
    • 0011209301 scopus 로고
    • The role of the descending pallido-reticular pathway in movement disorders
    • Segawa M, Nomura Y, eds, Basel: Karger
    • Shima F, Sakata S, Sun SJ, et al. The role of the descending pallido-reticular pathway in movement disorders. In: Segawa M, Nomura Y, eds. Age-Related Dopamine-Dependent Disorders. Basel: Karger, 1995: 197-207.
    • (1995) Age-Related Dopamine-Dependent Disorders , pp. 197-207
    • Shima, F.1    Sakata, S.2    Sun, S.J.3
  • 84
    • 0041871337 scopus 로고
    • Single unit analysis of thalamus in patients with dystonia
    • Lenz FA, Seike MS, Jaeger CJ, et al. Single unit analysis of thalamus in patients with dystonia. Mov Disord 1992; 7(Suppl 1): 126.
    • (1992) Mov Disord , vol.7 , pp. 126
    • Lenz, F.A.1    Seike, M.S.2    Jaeger, C.J.3
  • 85
    • 0041370567 scopus 로고    scopus 로고
    • Progress in Segawa’s disease
    • Mizuno Y, Fisher A, Hanin I, eds, New York: Kluwer Academic/Plenum
    • Segawa M. Progress in Segawa’s disease. In: Mizuno Y, Fisher A, Hanin I, eds. Mapping the Progress of Alzheimer’s Disease and Parkinson’s Disease. New York: Kluwer Academic/Plenum, 2002: 353-359.
    • (2002) Mapping the Progress of Alzheimer’s Disease and Parkinson’s Disease , pp. 353-359
    • Segawa, M.1
  • 86
    • 0035192539 scopus 로고    scopus 로고
    • Discussant -pathophysiologies of Rett syndrome
    • Segawa M. Discussant -pathophysiologies of Rett syndrome. Brain Dev 2001; 23(Suppl 1): S218-S223.
    • (2001) Brain Dev , vol.23 , pp. S218-S223
    • Segawa, M.1
  • 87
    • 0032102936 scopus 로고    scopus 로고
    • In vivo LEVODOPA production by genetically modified primary rat fibroblast or 9L gliosarcoma cell grafts via coexpression of GTPcyclohydrolase I with tyrosine hydroxylase
    • Leff SE, Rendahl KG, Spratt SK, et al. In vivo LEVODOPA production by genetically modified primary rat fibroblast or 9L gliosarcoma cell grafts via coexpression of GTPcyclohydrolase I with tyrosine hydroxylase. Exp Neurol 1998; 151: 249-264.
    • (1998) Exp Neurol , vol.151 , pp. 249-264
    • Leff, S.E.1    Rendahl, K.G.2    Spratt, S.K.3
  • 88
    • 0035798563 scopus 로고    scopus 로고
    • Catecholamines and serotonin are differently regulated by tetrahydrobiopteri. A study from 6-pyruvoyltetrahydropterin synthase knockout mice
    • Sumi-Ichinose C, Urano F, Kuroda R, et al. Catecholamines and serotonin are differently regulated by tetrahydrobiopteri. A study from 6-pyruvoyltetrahydropterin synthase knockout mice. J Biol Chem 2001; 276: 41150-41160.
    • (2001) J Biol Chem , vol.276 , pp. 41150-41160
    • Sumi-Ichinose, C.1    Urano, F.2    Kuroda, R.3
  • 89
    • 0031943362 scopus 로고    scopus 로고
    • Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia
    • Furukawa Y, Lang AE, Trugman JM, et al. Gender-related penetrance and de novo GTP-cyclohydrolase I 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
  • 90
    • 0025871949 scopus 로고
    • Sexual differentiation of monoaminergic neuron genetic epigenetic
    • Reisert I, Pilgrim C. Sexual differentiation of monoaminergic neuron genetic epigenetic. Trends Neurosci 1991; 14: 468-473.
    • (1991) Trends Neurosci , vol.14 , pp. 468-473
    • Reisert, I.1    Pilgrim, C.2
  • 91
    • 0031609927 scopus 로고    scopus 로고
    • Dystonias responding to levodopa and failure in biopterin metabolism
    • Nomura Y, Uetake K, Yukishita S, et al. Dystonias responding to levodopa and failure in biopterin metabolism. Adv Neurol 1998; 78: 253-266.
    • (1998) Adv Neurol , vol.78 , pp. 253-266
    • Nomura, Y.1    Uetake, K.2    Yukishita, S.3
  • 92
    • 0033839129 scopus 로고    scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation
    • Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation. Brain Dev 2000; 22(Suppl 1): S65-S80.
    • (2000) Brain Dev , vol.22 , pp. S65-S80
    • Segawa, M.1
  • 93
    • 0029962924 scopus 로고    scopus 로고
    • International database of tetrahydrobiopterin deficiencies
    • Blau N, Barnes I, Dhondt JL. International database of tetrahydrobiopterin deficiencies. J Inherit Metab Dis 1996; 19: 8-14.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 8-14
    • Blau, N.1    Barnes, I.2    Dhondt, J.L.3
  • 94
    • 0021344054 scopus 로고
    • GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia
    • Niederwieser A, Blau N, Wang M, et al. GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia. Eur J Pediatr 1984; 141: 208-214.
    • (1984) Eur J Pediatr , vol.141 , pp. 208-214
    • Niederwieser, A.1    Blau, N.2    Wang, M.3
  • 95
    • 0035044616 scopus 로고    scopus 로고
    • Molecular analysis and long-term followup of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency
    • Dudesek A, Roschinger W, Muntau AC, et al. Molecular analysis and long-term followup of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. Eur J Pediatr 2001; 160: 267-276.
    • (2001) Eur J Pediatr , vol.160 , pp. 267-276
    • Dudesek, A.1    Roschinger, W.2    Muntau, A.C.3
  • 96
    • 0035229974 scopus 로고    scopus 로고
    • Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency
    • Liu TT, Chang YH, Chiang SH, et al. Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. Hum Mutat 2001; 18: 83.
    • (2001) Hum Mutat , vol.18 , pp. 83
    • Liu, T.T.1    Chang, Y.H.2    Chiang, S.H.3
  • 97
    • 33644948642 scopus 로고    scopus 로고
    • Long-term follow-up and adult outcome of 6-pyruvoyl- tetrahydropterin synthase deficiency
    • Roze E, Vidailhet M, Blau N, et al. Long-term follow-up and adult outcome of 6-pyruvoyl- tetrahydropterin synthase deficiency. Mov Disord 2006; 21: 263-266.
    • (2006) Mov Disord , vol.21 , pp. 263-266
    • Roze, E.1    Vidailhet, M.2    Blau, N.3
  • 98
    • 18544406486 scopus 로고    scopus 로고
    • 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study
    • Hanihara T, Inoue K, Kawanishi C, et al. 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study. Mov Disord 1997; 12: 408-411.
    • (1997) Mov Disord , vol.12 , pp. 408-411
    • Hanihara, T.1    Inoue, K.2    Kawanishi, C.3
  • 99
    • 21844451119 scopus 로고    scopus 로고
    • 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia
    • Demos MK, Waters PJ, Vallance HD, et al. 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. Ann Neurol 2005; 58: 164-167.
    • (2005) Ann Neurol , vol.58 , pp. 164-167
    • Demos, M.K.1    Waters, P.J.2    Vallance, H.D.3
  • 100
    • 0024497282 scopus 로고
    • On-off phenomenon in a child with tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin synthase deficiency (BH4 deficiency)
    • Tanaka Y, Matsuo N, Tsuzaki S, et al. On-off phenomenon in a child with tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin synthase deficiency (BH4 deficiency). Eur J Pediatr 1989; 148: 450-452.
    • (1989) Eur J Pediatr , vol.148 , pp. 450-452
    • Tanaka, Y.1    Matsuo, N.2    Tsuzaki, S.3
  • 101
    • 0035719532 scopus 로고    scopus 로고
    • Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations
    • Chien YH, Chiang SC, Huang A, et al. Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations. J Inherit Metab Dis 2001; 24: 815-823.
    • (2001) J Inherit Metab Dis , vol.24 , pp. 815-823
    • Chien, Y.H.1    Chiang, S.C.2    Huang, A.3
  • 102
    • 0030877470 scopus 로고    scopus 로고
    • Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes
    • Thony B, Blau N. Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. Hum Mutat 1997; 10: 11-20.
    • (1997) Hum Mutat , vol.10 , pp. 11-20
    • Thony, B.1    Blau, N.2
  • 103
    • 0030854866 scopus 로고    scopus 로고
    • Identification of mutations causing 6-pyruvoyltetrahydropterin synthase deficiency in four Italian families
    • Oppliger T, Thony B, Kluge C, et al. Identification of mutations causing 6-pyruvoyltetrahydropterin synthase deficiency in four Italian families. Hum Mutat 1997; 10: 25-35.
    • (1997) Hum Mutat , vol.10 , pp. 25-35
    • Oppliger, T.1    Thony, B.2    Kluge, C.3
  • 104
    • 0033020992 scopus 로고    scopus 로고
    • Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia
    • Scherer-Oppliger T, Matasovic A, Laufs S, et al. Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia. Hum Mutat 1999; 13: 286-289.
    • (1999) Hum Mutat , vol.13 , pp. 286-289
    • Scherer-Oppliger, T.1    Matasovic, A.2    Laufs, S.3
  • 105
    • 0034928621 scopus 로고    scopus 로고
    • Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
    • Bonafe L, Thony B, Penzien JM, et al. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet 2001; 69: 269-277.
    • (2001) Am J Hum Genet , vol.69 , pp. 269-277
    • Bonafe, L.1    Thony, B.2    Penzien, J.M.3
  • 106
    • 26044449033 scopus 로고    scopus 로고
    • Sepiapterin reductase deficiency: A congenital dopa-responsive motor and cognitive disorder
    • Neville BG, Parascandalo R, Farrugia R, et al. Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder. Brain 2005; 128: 2291-2296.
    • (2005) Brain , vol.128 , pp. 2291-2296
    • Neville, B.G.1    Parascandalo, R.2    Farrugia, R.3
  • 107
    • 0034788778 scopus 로고    scopus 로고
    • Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: Diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency
    • Blau N, Bonafe L, Thony B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab 2001; 74: 172-185.
    • (2001) Mol Genet Metab , vol.74 , pp. 172-185
    • Blau, N.1    Bonafe, L.2    Thony, B.3
  • 108
    • 0022969750 scopus 로고
    • Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein
    • Cotton RG, Jennings I, Bracco G, et al. Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein. J Inherit Metab Dis 1986; 9: 239-243.
    • (1986) J Inherit Metab Dis , vol.9 , pp. 239-243
    • Cotton, R.G.1    Jennings, I.2    Bracco, G.3
  • 109
    • 0041572794 scopus 로고
    • Progressive extra-pyramidal disorder in 2 young brothers. Remarkable effects of treatment with Levodopa (French)
    • Castaigne P, Rondot P, Ribadeau-Dumas JL, et al. Progressive extra-pyramidal disorder in 2 young brothers. Remarkable effects of treatment with Levodopa (French). Rev Neurol (Paris) 1971; 124: 162-166.
    • (1971) Rev Neurol (Paris) , vol.124 , pp. 162-166
    • Castaigne, P.1    Rondot, P.2    Ribadeau-Dumas, J.L.3
  • 110
    • 0021012293 scopus 로고
    • Dystonia-Levodopa responsive or juvenile parkinsonism?
    • Rondot P, Ziegler M. Dystonia-Levodopa responsive or juvenile parkinsonism? J Neural Transm Suppl 1983; 19: 273-281.
    • (1983) J Neural Transm Suppl , vol.19 , pp. 273-281
    • Rondot, P.1    Ziegler, M.2
  • 111
    • 0029049876 scopus 로고
    • Recessively inherited LEVODOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
    • Knappskog PM, Flatmark T, Mallet J, et al. Recessively inherited LEVODOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet 1995; 4: 1209-1212.
    • (1995) Hum Mol Genet , vol.4 , pp. 1209-1212
    • Knappskog, P.M.1    Flatmark, T.2    Mallet, J.3
  • 112
    • 17144432891 scopus 로고    scopus 로고
    • Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia
    • Hoffmann GF, Assmann B, Brautigam C, et al. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol 2003; 54(Suppl 6): S56-S65.
    • (2003) Ann Neurol , vol.54 , pp. S56-S65
    • Hoffmann, G.F.1    Assmann, B.2    Brautigam, C.3
  • 114
    • 0036523866 scopus 로고    scopus 로고
    • Tyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancy
    • Grattan-Smith PJ, Wevers RA, Steenbergen-Spanjers GC, et al. Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy. Mov Disord 2002; 17: 354-359.
    • (2002) Mov Disord , vol.17 , pp. 354-359
    • Grattan-Smith, P.J.1    Wevers, R.A.2    Steenbergen-Spanjers, G.C.3
  • 115
    • 0032710990 scopus 로고    scopus 로고
    • Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency
    • Brautigam C, Steenbergen-Spanjers GC, Hoffmann GF, et al. Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. Clin Chem 1999; 45: 2073-2078.
    • (1999) Clin Chem , vol.45 , pp. 2073-2078
    • Brautigam, C.1    Steenbergen-Spanjers, G.C.2    Hoffmann, G.F.3
  • 116
    • 0031721663 scopus 로고    scopus 로고
    • Biochemical hallmarks of tyrosine hydroxylase deficiency
    • Brautigam C, Wevers RA, Jansen RJ, et al. Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin Chem 1998; 44: 1897-1904.
    • (1998) Clin Chem , vol.44 , pp. 1897-1904
    • Brautigam, C.1    Wevers, R.A.2    Jansen, R.J.3
  • 117
    • 0344435235 scopus 로고    scopus 로고
    • A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
    • Wevers RA, de Rijk-van Andel JF, Brautigam C, et al. A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). J Inherit Metab Dis 1999; 22: 364-373.
    • (1999) J Inherit Metab Dis , vol.22 , pp. 364-373
    • Wevers, R.A.1    de Rijk-Van Andel, J.F.2    Brautigam, C.3
  • 118
    • 0033914517 scopus 로고    scopus 로고
    • Tyrosine hydroxylase deficiency with severe clinical course: Clinical and biochemical investigations and optimization of therapy
    • Dionisi-Vici C, Hoffmann GF, Leuzzi V, et al. Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy. J Pediatr 2000; 136: 560-562.
    • (2000) J Pediatr , vol.136 , pp. 560-562
    • Dionisi-Vici, C.1    Hoffmann, G.F.2    Leuzzi, V.3
  • 119
    • 0030035985 scopus 로고    scopus 로고
    • Recessively inherited LEVODOPAresponsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene
    • Ludecke B, Knappskog PM, Clayton PT, et al. Recessively inherited LEVODOPAresponsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet 1996; 5: 1023-1028.
    • (1996) Hum Mol Genet , vol.5 , pp. 1023-1028
    • Ludecke, B.1    Knappskog, P.M.2    Clayton, P.T.3
  • 120
    • 0034110552 scopus 로고    scopus 로고
    • Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism
    • Swaans RJ, Rondot P, Renier WO, et al. Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. Ann Hum Genet 2000; 64: 25-31.
    • (2000) Ann Hum Genet , vol.64 , pp. 25-31
    • Swaans, R.J.1    Rondot, P.2    Renier, W.O.3
  • 121
    • 0035936609 scopus 로고    scopus 로고
    • Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase gene mutations
    • Furukawa Y, Graf WD, Wong H, et al. Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase gene mutations. Neurology 2001; 56: 260-263.
    • (2001) Neurology , vol.56 , pp. 260-263
    • Furukawa, Y.1    Graf, W.D.2    Wong, H.3
  • 122
    • 0034533698 scopus 로고    scopus 로고
    • A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder
    • Janssen RJ, Wevers RA, Haussler M, et al. A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder. Ann Hum Genet 2000; 64: 375-382.
    • (2000) Ann Hum Genet , vol.64 , pp. 375-382
    • Janssen, R.J.1    Wevers, R.A.2    Haussler, M.3
  • 123
    • 0018595070 scopus 로고
    • Noradrenaline and behaviour
    • Mason ST. Noradrenaline and behaviour. Trends Neurosci 1979; 2: 82-84.
    • (1979) Trends Neurosci , vol.2 , pp. 82-84
    • Mason, S.T.1
  • 124
    • 27144461526 scopus 로고
    • Learning abilities of the rats with lesion in the dorsal noradrenergic bundele (Japanese)
    • Tanaka S, Miyagawa F, Imai H, et al. Learning abilities of the rats with lesion in the dorsal noradrenergic bundele (Japanese). Juntendo Med J (Tokyo) 1987; 33: 271-272.
    • (1987) Juntendo Med J (Tokyo) , vol.33 , pp. 271-272
    • Tanaka, S.1    Miyagawa, F.2    Imai, H.3
  • 125
    • 0015265246 scopus 로고
    • Biochemical and behavioural changes induced by isolation in rats
    • Valzelli L, Garattini S. Biochemical and behavioural changes induced by isolation in rats. Neuropharmacology 1972; 11: 17-22.
    • (1972) Neuropharmacology , vol.11 , pp. 17-22
    • Valzelli, L.1    Garattini, S.2
  • 126
    • 0021028678 scopus 로고
    • Impaired growth of the cerebral cortex of rats treated neonatally with 6-hydroxydopamine under different environmental conditions
    • Brenner E, Mirmiran M, Uylings HB, et al. Impaired growth of the cerebral cortex of rats treated neonatally with 6-hydroxydopamine under different environmental conditions. Neurosci Lett 1983; 42: 13-17.
    • (1983) Neurosci Lett , vol.42 , pp. 13-17
    • Brenner, E.1    Mirmiran, M.2    Uylings, H.B.3
  • 127
    • 77957924121 scopus 로고    scopus 로고
    • Pathophysiology of Austism: Evaluation of Sleep and locomotion
    • Tuchman R, Rapin I, eds, International Review of Child Neurology Series (ICNA). London: Mac Keith Press
    • Segawa M, Nomura Y. Pathophysiology of Austism: Evaluation of Sleep and locomotion. In: Tuchman R, Rapin I, eds. Autism: a neurological disorder of early brain development. International Review of Child Neurology Series (ICNA). London: Mac Keith Press, 2006: 248-264.
    • (2006) Autism: A neurological disorder of early brain development , pp. 248-264
    • Segawa, M.1    Nomura, Y.2
  • 128
    • 0026622977 scopus 로고
    • Neuronal constituents of postural and locomotor control systems and their interactions in cats
    • Mori S, Matsuyama K, Kohyama J, et al. Neuronal constituents of postural and locomotor control systems and their interactions in cats. Brain Dev 1992; 14(Suppl): S109-S120.
    • (1992) Brain Dev , vol.14 , pp. S109-S120
    • Mori, S.1    Matsuyama, K.2    Kohyama, J.3
  • 129
    • 0037172668 scopus 로고    scopus 로고
    • Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14
    • Grötzsch H, Pizzolato GP, Ghika J, et al. Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14. Neurology 2002; 58(12): 1839-1842.
    • (2002) Neurology , vol.58 , Issue.12 , pp. 1839-1842
    • Grötzsch, H.1    Pizzolato, G.P.2    Ghika, J.3
  • 130
    • 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
  • 132
    • 16944362288 scopus 로고    scopus 로고
    • Localization of a gene for an autosomal recessive from of juvenile parkinsonism to chromosome 6q25.2-27
    • Matsumine M, Saito M, Shimoda-Matsubayashi S, et al. Localization of a gene for an autosomal recessive from of juvenile parkinsonism to chromosome 6q25.2-27. Am J Hum Genet 1997; 60: 588-596.
    • (1997) Am J Hum Genet , vol.60 , pp. 588-596
    • Matsumine, M.1    Saito, M.2    Shimoda-Matsubayashi, S.3
  • 133
    • 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
  • 134
    • 0342431660 scopus 로고
    • Clinicopathological identification of juvenile parkinsonism in reference to dopa-responsive disorders
    • Segawa M, ed, Carnforth: Parthenon
    • Yokochi M. Clinicopathological identification of juvenile parkinsonism in reference to dopa-responsive disorders. In: Segawa M, ed. Hereditary Progressive Dystonia with Marked Diurnal Fluctuation. Carnforth: Parthenon, 1993: 37-47.
    • (1993) Hereditary Progressive Dystonia with Marked Diurnal Fluctuation , pp. 37-47
    • Yokochi, M.1
  • 135
    • 0342431656 scopus 로고    scopus 로고
    • Juvenile parkinsonian-a clinical, neuropathologic and biochemical study
    • Kondo T, Mori H, Sugita Y, et al. Juvenile parkinsonian-a clinical, neuropathologic and biochemical study. Mov Disord 1997; 12 (Suppl 1): 32.
    • (1997) Mov Disord , vol.12 , pp. 32
    • Kondo, T.1    Mori, H.2    Sugita, Y.3
  • 136
    • 0021927269 scopus 로고
    • Idiopathic dystonia: Parkinsonism with marked diurnal fluctuation of symptoms
    • Sunohara N, Mano Y, Ando K, et al. Idiopathic dystonia: parkinsonism with marked diurnal fluctuation of symptoms. Ann Neurol 1985; 17: 39-45.
    • (1985) Ann Neurol , vol.17 , pp. 39-45
    • Sunohara, N.1    Mano, Y.2    Ando, K.3
  • 137
    • 79954464667 scopus 로고
    • Idiopathic dystonia-parkinsonism with diurnal fluctuation: A follow-up study and magnetic resonance imaging findings
    • Segawa M, ed, Carnforth: Parthenon
    • Sunohara N, Ikeda K, Tomi H. Idiopathic dystonia-parkinsonism with diurnal fluctuation: a follow-up study and magnetic resonance imaging findings. In: Segawa M, ed. Hereditary Progressive Dystonia with Marked Diurnal Fluctation. Carnforth: Parthenon, 1993: 61-70.
    • (1993) Hereditary Progressive Dystonia with Marked Diurnal Fluctation , pp. 61-70
    • Sunohara, N.1    Ikeda, K.2    Tomi, H.3
  • 138
    • 0018603923 scopus 로고
    • Juvenile Parkinsons disease-part I. Clinical aspects (Japanese)
    • Yokochi M. Juvenile Parkinsons disease-part I. Clinical aspects (Japanese). Adv Neurol Sci (Tokyo) 1979; 23: 1060-1073.
    • (1979) Adv Neurol Sci (Tokyo) , vol.23 , pp. 1060-1073
    • Yokochi, M.1
  • 139
    • 0342369398 scopus 로고    scopus 로고
    • Levodopa-responsive dystonia: GTP cyclohydrolase I or parkin mutations?
    • Tassin J, Durr A, Bonnet A-M, et al. Levodopa-responsive dystonia: GTP cyclohydrolase I or parkin mutations? Brain 2000; 123: 1112-1121.
    • (2000) Brain , vol.123 , pp. 1112-1121
    • Tassin, J.1    Durr, A.2    Bonnet, A.-M.3
  • 140
    • 0037208668 scopus 로고    scopus 로고
    • Genetics and biochemistry of dopa-responsive dystonia: Significance of striatal tyrosine hydroxylase protein loss
    • Furukawa Y. Genetics and biochemistry of dopa-responsive dystonia: significance of striatal tyrosine hydroxylase protein loss. Adv Neurol 2003; 91: 401-410.
    • (2003) Adv Neurol , vol.91 , pp. 401-410
    • Furukawa, Y.1


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