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.

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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.

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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.

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

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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.

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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.

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GeneReviews: Lesch-Nyhan syndrome

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.

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

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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.

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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.

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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.

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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.

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

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

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

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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

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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.

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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.

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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.

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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.

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

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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.

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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.

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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.

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

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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.

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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.

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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.

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

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

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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

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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.

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

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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.

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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.

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

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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.

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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.

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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.

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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.

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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.

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59.  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.

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

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

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

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