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Volumn 26, Issue 4, 2011, Pages 746-749

Levodopa is not a useful treatment for Lesch-Nyhan disease

Author keywords

Dyskinesias; Dystonia; Lesch Nyhan disease; Levodopa; Self injurious behavior; Treatment

Indexed keywords

CARBIDOPA PLUS LEVODOPA;

EID: 79955003719     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23478     Document Type: Article
Times cited : (26)

References (30)
  • 1
    • 0001168164 scopus 로고
    • A familial disorder or uric acid metabolism and central nervous system function
    • Lesch M, Nyhan WL. A familial disorder or uric acid metabolism and central nervous system function. Am J Med 1964; 36: 561-570.
    • (1964) Am J Med , vol.36 , pp. 561-570
    • Lesch, M.1    Nyhan, W.L.2
  • 2
    • 0000544518 scopus 로고    scopus 로고
    • Lesch-Nyhan disease and its variants
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
    • Jinnah HA, Friedmann T. Lesch-Nyhan disease and its variants. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. p 2537-2570.
    • (2001) The metabolic and molecular bases of inherited disease , pp. 2537-2570
    • Jinnah, H.A.1    Friedmann, T.2
  • 3
    • 33646227430 scopus 로고    scopus 로고
    • Delineation of the motor disorder of Lesch-Nyhan disease
    • Jinnah HA, Visser JE, Harris JC, et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain 2006; 129: 1201-1217.
    • (2006) Brain , vol.129 , pp. 1201-1217
    • Jinnah, H.A.1    Visser, J.E.2    Harris, J.C.3
  • 4
    • 0035664018 scopus 로고    scopus 로고
    • Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency
    • Schretlen DJ, Harris JC, Park KS, Jinnah HA, del Pozo NO. Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency. J Int Neuropsychol Soc 2001; 7: 805-812.
    • (2001) J Int Neuropsychol Soc , vol.7 , pp. 805-812
    • Schretlen, D.J.1    Harris, J.C.2    Park, K.S.3    Jinnah, H.A.4    del Pozo, N.O.5
  • 6
    • 0019828355 scopus 로고
    • Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome
    • Lloyd KG, Hornykiewicz O, Davidson L, et al. Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. N Engl J Med 1981; 305: 1106-1111.
    • (1981) N Engl J Med , vol.305 , pp. 1106-1111
    • Lloyd, K.G.1    Hornykiewicz, O.2    Davidson, L.3
  • 8
    • 9344268249 scopus 로고    scopus 로고
    • Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo
    • Wong DF, Harris JC, Naidu S, et al. Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. Proc Natl Acad Sci USA 1996; 93: 5539-5543.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 5539-5543
    • Wong, D.F.1    Harris, J.C.2    Naidu, S.3
  • 9
    • 0029889462 scopus 로고    scopus 로고
    • Presynaptic dopaminergic deficits in Lesch-Nyhan disease
    • Ernst M, Zametkin AJ, Matochik JA, et al. Presynaptic dopaminergic deficits in Lesch-Nyhan disease. N Engl J Med 1996; 334: 1568-1572.
    • (1996) N Engl J Med , vol.334 , pp. 1568-1572
    • Ernst, M.1    Zametkin, A.J.2    Matochik, J.A.3
  • 11
    • 0023679928 scopus 로고
    • Behavioral and neurochemical evaluation of a transgenic mouse model of Lesch-Nyhan syndrome
    • Finger S, Heavens RP, Sirinathsinghji DJ, Kuehn MR, Dunnett SB. Behavioral and neurochemical evaluation of a transgenic mouse model of Lesch-Nyhan syndrome. J Neurol Sci 1988; 86: 203-213.
    • (1988) J Neurol Sci , vol.86 , pp. 203-213
    • Finger, S.1    Heavens, R.P.2    Sirinathsinghji, D.J.3    Kuehn, M.R.4    Dunnett, S.B.5
  • 12
    • 0028218268 scopus 로고
    • Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease
    • Jinnah HA, Wojcik BE, Hunt M, et al. Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease. J Neurosci 1994; 14: 1164-1175.
    • (1994) J Neurosci , vol.14 , pp. 1164-1175
    • Jinnah, H.A.1    Wojcik, B.E.2    Hunt, M.3
  • 13
    • 34147100640 scopus 로고    scopus 로고
    • Basal ganglia dopamine loss due to defect in purine recycling
    • Egami K, Yitta S, Kasim S, et al. Basal ganglia dopamine loss due to defect in purine recycling. Neurobiol Dis 2007; 26: 396-407.
    • (2007) Neurobiol Dis , vol.26 , pp. 396-407
    • Egami, K.1    Yitta, S.2    Kasim, S.3
  • 14
    • 0022438654 scopus 로고
    • Hypoxanthine and tetrahydrobiopterin treatment of a patient with features of the Lesch-Nyhan syndrome
    • Manzke H, Gustmann H, Koke HG, Nyhan WL. Hypoxanthine and tetrahydrobiopterin treatment of a patient with features of the Lesch-Nyhan syndrome. Adv Exp Med Biol 1986; 195(Pt A): 197-203.
    • (1986) Adv Exp Med Biol , vol.195 , Issue.PART A , pp. 197-203
    • Manzke, H.1    Gustmann, H.2    Koke, H.G.3    Nyhan, W.L.4
  • 15
    • 52649083272 scopus 로고    scopus 로고
    • Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks
    • Serrano M, Perez-Duenas B, Ormazabal A, et al. Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks. Mov Disord 2008; 23: 1297-1300.
    • (2008) Mov Disord , vol.23 , pp. 1297-1300
    • Serrano, M.1    Perez-Duenas, B.2    Ormazabal, A.3
  • 16
    • 0016398069 scopus 로고
    • Letter: self mutilation in Lesch-Nyhan syndrome
    • Mizuno TI, Yugari Y. Letter: self mutilation in Lesch-Nyhan syndrome. Lancet 1974; 1: 761.
    • (1974) Lancet , vol.1 , pp. 761
    • Mizuno, T.I.1    Yugari, Y.2
  • 17
    • 0023888809 scopus 로고
    • Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters
    • Jankovic J, Caskey TC, Stout JT, Butler IJ. Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters. Ann Neurol 1988; 23: 466-469.
    • (1988) Ann Neurol , vol.23 , pp. 466-469
    • Jankovic, J.1    Caskey, T.C.2    Stout, J.T.3    Butler, I.J.4
  • 18
    • 0020364784 scopus 로고
    • Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the Neurological manifestations
    • Watts RW, Spellacy E, Gibbs DA, Allsop J, McKeran RO, Slavin GE. Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the Neurological manifestations. Q J Med 1982; 51: 43-78.
    • (1982) Q J Med , vol.51 , pp. 43-78
    • Watts, R.W.1    Spellacy, E.2    Gibbs, D.A.3    Allsop, J.4    McKeran, R.O.5    Slavin, G.E.6
  • 19
    • 0029821973 scopus 로고    scopus 로고
    • Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures
    • Hunter TC, Melancon SB, Dallaire L, et al. Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures. Somat Cell Mol Genet 1996; 22: 145-150.
    • (1996) Somat Cell Mol Genet , vol.22 , pp. 145-150
    • Hunter, T.C.1    Melancon, S.B.2    Dallaire, L.3
  • 22
    • 67749110057 scopus 로고    scopus 로고
    • The monogenic primary dystonias
    • Muller U. The monogenic primary dystonias. Brain 2009; 132: 2005-2025.
    • (2009) Brain , vol.132 , pp. 2005-2025
    • Muller, U.1
  • 23
    • 0030906741 scopus 로고    scopus 로고
    • Differential effects of bilateral dopamine depletion in neonatal and adult rats
    • Moy SS, Criswell HE, Breese GR. Differential effects of bilateral dopamine depletion in neonatal and adult rats. Neurosci Biobehav Rev 1997; 21: 425-435.
    • (1997) Neurosci Biobehav Rev , vol.21 , pp. 425-435
    • Moy, S.S.1    Criswell, H.E.2    Breese, G.R.3
  • 24
    • 0021723527 scopus 로고
    • Behavioral differences between neonatal and adult 6-hydroxydopamine-treated rats to dopamine agonists: relevance to neurological symptoms in clinical syndromes with reduced brain dopamine
    • Breese GR, Baumeister AA, McCown TJ, et al. Behavioral differences between neonatal and adult 6-hydroxydopamine-treated rats to dopamine agonists: relevance to neurological symptoms in clinical syndromes with reduced brain dopamine. J Pharmacol Exp Ther 1984; 231: 343-354.
    • (1984) J Pharmacol Exp Ther , vol.231 , pp. 343-354
    • Breese, G.R.1    Baumeister, A.A.2    McCown, T.J.3
  • 25
    • 72149094883 scopus 로고    scopus 로고
    • Chronic dopaminergic stimulation in Parkinson's disease: from dyskinesias to impulse control disorders
    • Voon V, Fernagut PO, Wickens J, et al. Chronic dopaminergic stimulation in Parkinson's disease: from dyskinesias to impulse control disorders. Lancet Neurol 2009; 8: 1140-1149.
    • (2009) Lancet Neurol , vol.8 , pp. 1140-1149
    • Voon, V.1    Fernagut, P.O.2    Wickens, J.3
  • 27
    • 0037304801 scopus 로고    scopus 로고
    • Disappearance of self-mutilating behavior in a patient with lesch-nyhan syndrome after bilateral chronic stimulation of the globus pallidus internus. Case report
    • Taira T, Kobayashi T, Hori T. Disappearance of self-mutilating behavior in a patient with lesch-nyhan syndrome after bilateral chronic stimulation of the globus pallidus internus. Case report. J Neurosurg 2003; 98: 414-416.
    • (2003) J Neurosurg , vol.98 , pp. 414-416
    • Taira, T.1    Kobayashi, T.2    Hori, T.3
  • 29
    • 37549000135 scopus 로고    scopus 로고
    • Antero-ventral internal pallidum stimulation improves behavioral disorders in Lesch-Nyhan disease
    • Cif L, Biolsi B, Gavarini S, et al. Antero-ventral internal pallidum stimulation improves behavioral disorders in Lesch-Nyhan disease. Mov Disord 2007; 22: 2126-2129.
    • (2007) Mov Disord , vol.22 , pp. 2126-2129
    • Cif, L.1    Biolsi, B.2    Gavarini, S.3
  • 30
    • 33644818639 scopus 로고    scopus 로고
    • Electrophysiological characteristics of limbic and motor globus pallidus internus (GPI) neurons in two cases of Lesch-Nyhan syndrome
    • Pralong E, Pollo C, Coubes P, et al. Electrophysiological characteristics of limbic and motor globus pallidus internus (GPI) neurons in two cases of Lesch-Nyhan syndrome. Neurophysiol Clin 2005; 35: 168-173.
    • (2005) Neurophysiol Clin , vol.35 , pp. 168-173
    • Pralong, E.1    Pollo, C.2    Coubes, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.