Lesch-Nyhan 病

Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med. 1964;36:561-570. 摘要

Visser JE, Bar PR, Jinnah HA. Lesch-Nyhan disease and the basal ganglia. Brain Res Brain Res Rev. 2000 Apr;32(2-3):449-75. 摘要

Jinnah HA, Ceballos-Picot I, Torres RJ, et al; Lesch-Nyhan Disease International Study Group. Attenuated variants of Lesch-Nyhan disease. Brain. 2010 Mar;133(Pt 3):671-89.全文  摘要

Torres RJ, Puig JG. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis. 2007 Dec 8;2:48.全文  摘要

Jinnah HA, De Gregorio L, Harris JC, et al. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res. 2000 Oct;463(3):309-26. 摘要

Fu R, Ceballos-Picot I, Torres RJ, et al; Lesch-Nyhan Disease International Study Group. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain. 2014 May;137(Pt 5):1282-303.全文  摘要

Jinnah HA, Visser JE, Harris JC, et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain. 2006 May;129(Pt 5):1201-17.全文  摘要

1. Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med. 1964;36:561-570. 摘要

2. Seegmiller JE, Rosenbloom FM, Kelley WN. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science. 1967;155:1682-1684. 摘要

3. Jinnah HA, Friedmann T. Lesch-Nyhan disease and its variants. In: Scriver CR, Beaudet AL, Sly WS, et al., eds. The metabolic and molecular bases of inherited disease. New York, NY: McGraw-Hill; 2001:2537-2570.

4. Visser JE, Bar PR, Jinnah HA. Lesch-Nyhan disease and the basal ganglia. Brain Res Brain Res Rev. 2000 Apr;32(2-3):449-75. 摘要

5. Jinnah HA, Ceballos-Picot I, Torres RJ, et al; Lesch-Nyhan Disease International Study Group. Attenuated variants of Lesch-Nyhan disease. Brain. 2010 Mar;133(Pt 3):671-89.全文  摘要

6. Sege-Peterson K, Chambers J, Page T, et al. Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. Hum Mol Genet. 1992 Sep;1(6):427-32. 摘要

7. Kelley WN, Greene ML, Rosenbloom FM, et al. Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout. Ann Intern Med. 1969 Jan;70(1):155-206. 摘要

8. Torres RJ, Puig JG. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis. 2007 Dec 8;2:48.全文  摘要

9. Crawhall JC, Henderson JF, Kelley WN. Diagnosis and treatment of the Lesch-Nyhan syndrome. Pediatr Res. 1972 May;6(5):504-13. 摘要

10. Shows TB, Brown JA. Localization of genes coding for PGK, HPRT, and G6PD on the long arm of the X chromosome in somatic cell hybrids. Cytogenet Cell Genet. 1975;14(3-6):426-9. 摘要

11. Jinnah HA, De Gregorio L, Harris JC, et al. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res. 2000 Oct;463(3):309-26. 摘要

12. Fu R, Ceballos-Picot I, Torres RJ, et al; Lesch-Nyhan Disease International Study Group. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain. 2014 May;137(Pt 5):1282-303.全文  摘要

13. Becker MA. Hyperuricemia and gout. In: Scriver CR, Beaudet AL, Sly WS, et al., eds. The metabolic and molecular bases of inherited disease. New York, NY: McGraw-Hill; 2001:2513-2535.

14. 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 Nov 5;305(19):1106-11. 摘要

15. Saito Y, Ito M, Hanaoka S, et al. Dopamine receptor upregulation in Lesch-Nyhan syndrome: a postmortem study. Neuropediatrics. 1999 Apr;30(2):66-71. 摘要

16. Schretlen DJ, Varvaris M, Ho TE, et al. Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study. Lancet Neurol. 2013 Dec;12(12):1151-8.全文  摘要

17. Schretlen DJ, Varvaris M, Vannorsdall TD, et al. Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants. Neurology. 2015 Jan 13;84(2):190-6. 摘要

18. Göttle M, Prudente CN, Fu R, et al. Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease. Ann Neurol. 2014 Jul;76(1):95-107. 摘要

19. Kang TH, Guibinga GH, Jinnah HA, et al. HPRT deficiency coordinately dysregulates canonical Wnt and presenilin-1 signaling: a neuro-developmental regulatory role for a housekeeping gene? PLoS One. 2011 Jan 28;6(1):e16572.全文  摘要

20. Ceballos-Picot I, Mockel L, Potier MC, et al. Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis. Hum Mol Genet. 2009 Jul 1;18(13):2317-27.全文  摘要

21. Visser JE, Schretlen DJ, Bloem BR, Jinnah HA. Levodopa is not a useful treatment for Lesch-Nyhan disease. Mov Disord. 2011 Mar;26(4):746-9. 摘要

22. Jinnah HA, Visser JE, Harris JC, et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain. 2006 May;129(Pt 5):1201-17.全文  摘要

23. Watts RW, Harkness RA, Spellacy E, et al. Lesch-Nyhan syndrome: growth delay, testicular atrophy and a partial failure of the 11 beta-hydroxylation of steroids. J Inherit Metab Dis. 1987;10(3):210-23. 摘要

24. Mizuno T. Long-term follow-up of ten patients with Lesch-Nyhan syndrome. Neuropediatrics. 1986 Aug;17(3):158-61. 摘要

25. Christie R, Bay C, Kaufman IA, et al. Lesch-Nyhan disease: clinical experience with nineteen patients. Dev Med Child Neurol. 1982 Jun;24(3):293-306. 摘要

26. Watts RW, Spellacy E, Gibbs DA, et al. Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the neurological manifestations. Q J Med. 1982;51(201):43-78. 摘要

27. Hersh JH, Page T, Hand ME, et al. Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency. Pediatr Neurol. 1986 Sep-Oct;2(5):302-4. 摘要

28. Page T, Bakay B, Nissinen E. Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity. J Inherit Metab Dis. 1981;4(4):203-6. 摘要

29. Page T, Nyhan WL. The spectrum of HPRT deficiency: an update. Adv Exp Med Biol. 1989;253A:129-33. 摘要

30. Ernst M, Zametkin AJ, Matochik JA, et al. Presynaptic dopaminergic deficits in Lesch-Nyhan disease. N Engl J Med. 1996 Jun 13;334(24):1568-72.全文  摘要

31. Harris JC, Lee RR, Jinnah HA, et al. Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome. Arch Neurol. 1998 Apr;55(4):547-53.全文  摘要

32. Fenichel GM. Developmental delay and regression in infants. In: Bradley WG, Daroff RB, Fenichel GM, et al., eds. Neurology in clinical practice. Boston, MA: Butterworth-Heinemann; 2000:81-7.

33. Jinnah HA, Hess EJ. Experimental therapeutics for dystonia. Neurotherapeutics. 2008 Apr;5(2):198-209.全文  摘要

34. Huisman S, Mulder P, Kuijk J, et al. Self-injurious behavior. Neurosci Biobehav Rev. 2018 Jan;84:483-91.全文  摘要

35. Alford RL, Redman JB, O'Brien WE, et al. Lesch-Nyhan syndrome: carrier and prenatal diagnosis. Prenat Diagn. 1995 Apr;15(4):329-38. 摘要

36. Torres RJ, Prior C, Puig JG. Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency. Metabolism. 2007 Sep;56(9):1179-86. 摘要

37. Sweetman L, Nyhan WL. Excretion of hypoxanthine and xanthine in a genetic disease of purine metabolism. Nature. 1967 Aug 19;215(5103):859-60. 摘要

38. Kranen S, Keough D, Gordon RB, et al. Xanthine-containing calculi during allopurinol therapy. J Urol. 1985 Apr;133(4):658-9. 摘要

39. Morton WJ. Lesch-Nyhan syndrome. Urology. 1982 Nov;20(5):506-9. 摘要

40. Morino M, Shiigai N, Kusuyama H, et al. Extracorporeal shock wave lithotripsy and xanthine calculi in Lesch-Nyhan syndrome. Pediatr Radiol. 1992;22(4):304. 摘要

41. Jankovic J, Caskey TC, Stout JT, et al. Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters. Ann Neurol. 1988 May;23(5):466-9. 摘要

42. 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 Jul 15;23(9):1297-300. 摘要

43. Goldstein M, Anderson LT, Reuben R, et al. Self-mutilation in Lesch-Nyhan disease is caused by dopaminergic denervation. Lancet. 1985 Feb 9;1(8424):338-9. 摘要

44. Watts RW, McKeran RO, Brown E, et al. Clinical and biochemical studies on treatment of Lesch-Nyhan syndrome. Arch Dis Child. 1974 Sep;49(9):693-702.全文  摘要

45. Anderson LT, Herrmann L, Dancis J. The effect of L-5-hydroxytryptophan on self-mutilation in Lesch-Nyhan disease: a negative report. Neuropadiatrie. 1976 Nov;7(4):439-42. 摘要

46. Dolcetta D, Parmigiani P, Salmaso L, et al. Quantitative evaluation of the clinical effects of S-adenosylmethionine on mood and behavior in Lesch-Nyhan patients. Nucleosides Nucleotides Nucleic Acids. 2013;32(4):174-88. 摘要

47. Anderson L, Dancis J, Alpert M, et al. Punishment learning and self-mutilation in Lesch-Nyhan disease. Nature. 1977 Feb 3;265(5593):461-3. 摘要

48. Bull M, LaVecchio F. Behavior therapy for a child with Lesch-Nyhan syndrome. Dev Med Child Neurol. 1978 Jun;20(3):368-75. 摘要

49. Ball TS, Datta PC, Rios M, et al. Flexible arm splints in the control of a Lesch-Nyhan victim's finger biting and a profoundly retarded client's finger sucking. J Autism Dev Disord. 1985 Jun;15(2):177-84. 摘要

50. Nyhan WL. Behavior in the Lesch-Nyhan syndrome. J Autism Child Schizophr. 1976 Sep;6(3):235-52. 摘要

51. Cusumano FJ, Penna KJ, Panossian G. Prevention of self-mutilation in patients with Lesch-Nyhan syndrome: review of literature. ASDC J Dent Child. 2001 May-Jun;68(3):175-8. 摘要

52. Letts RM, Hobson DA. Special devices as aids in the management of child self-mutilation in the Lesch-Nyhan syndrome. Pediatrics. 1975 Jun;55(6):852-5. 摘要

53. van der Zee SP, Schretlen ED, Monnens LA. Megaloblastic anaemia in the Lesch-Nyhan syndrome. Lancet. 1968 Jun 29;1(7557):1427. 摘要

54. 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 Feb;98(2):414-6. 摘要

55. 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 Nov-Dec;35(5-6):168-73. 摘要

56. Cif L, Biolsi B, Gavarini S, et al. Antero-ventral internal pallidum stimulation improves behavioral disorders in Lesch-Nyhan disease. Mov Disord. 2007 Oct 31;22(14):2126-9. 摘要

57. Piedimonte F, Andreani JC, Piedimonte L, et al. Remarkable clinical improvement with bilateral globus pallidus internus deep brain stimulation in a case of Lesch-Nyhan disease: five-year follow-up. Neuromodulation. 2015 Feb;18(2):118-22. 摘要

58. Deon LL, Kalichman MA, Booth CL, et al. Pallidal deep-brain stimulation associated with complete remission of self-injurious behaviors in a patient with Lesch-Nyhan syndrome: a case report. J Child Neurol. 2012 Jan;27(1):117-20. 摘要

59. Air EL, Ostrem JL, Sanger TD, et al. Deep brain stimulation in children: experience and technical pearls. J Neurosurg Pediatr. 2011 Dec;8(6):566-74. 摘要

60. Tambirajoo K, Furlanetti L, Hasegawa H, et al. Deep Brain Stimulation of the Internal Pallidum in Lesch-Nyhan Syndrome: Clinical Outcomes and Connectivity Analysis. Neuromodulation. 2021 Feb;24(2):380-91. 摘要

61. Abel TJ, Dalm BD, Grossbach AJ, et al. Lateralized effect of pallidal stimulation on self-mutilation in Lesch-Nyhan disease. J Neurosurg Pediatr. 2014 Dec;14(6):594-7. 摘要

62. Visser JE, Cotton AC, Schretlen DJ, et al. Deep brain stimulation in Lesch-Nyhan disease: outcomes from the patient's perspective. Dev Med Child Neurol. 2021 Aug;63(8):963-68.全文  摘要

63. Khasnavis T, Torres RJ, Sommerfeld B, et al. A double-blind, placebo-controlled, crossover trial of the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease. Mol Genet Metab. 2016 Jul;118(3):160-6. 摘要

64. Neychev VK, Jinnah HA. Sudden death in Lesch-Nyhan disease. Dev Med Child Neurol. 2006 Nov;48(11):923-6.全文  摘要

65. Sponseller PD, Ahn NU, Choi JC, et al. Orthopedic problems in Lesch-Nyhan syndrome. J Pediatr Orthop. 1999 Sep-Oct;19(5):596-602. 摘要

66. Shewell PC, Thompson AG. Atlantoaxial instability in Lesch-Nyhan syndrome. Spine. 1996 Mar 15;21(6):757-62. 摘要