The biochemical basis of the behavioral disorder in the Lesch-Nyhan syndrome

[1]  A. Baumeister,et al.  An analysis of variables related to self-injurious behaviour among institutionalised retarded persons. , 2008, Journal of mental deficiency research.

[2]  Suzanne N. Haber,et al.  Gilles de la Tourette's syndrome A postmortem neuropathological and immunohistochemical study , 1986, Journal of the Neurological Sciences.

[3]  K. Kotrla,et al.  Evaluation of the role of antinociception in self-injurious behavior following intranigral injection of muscimol , 1986, Neuropharmacology.

[4]  G. Breese,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. , 1984, The Journal of pharmacology and experimental therapeutics.

[5]  G. Breese,et al.  Neonatal-6-hydroxydopamine treatment: Model of susceptibility for self-mutilation in the lesch-nyhan syndrome , 1984, Pharmacology Biochemistry and Behavior.

[6]  G. Frye,et al.  Self-injurious behavior in rats produced by intranigral microinjection of GABA agonists , 1984, Pharmacology Biochemistry and Behavior.

[7]  S. Kulkarni,et al.  P-1 purinoceptor antagonism by clonidine in the rat caecum. , 1984, Life sciences.

[8]  I. Ushijima,et al.  The clonidine-induced self-injurious behavior of mice involves purinergic mechanisms , 1984, Pharmacology Biochemistry and Behavior.

[9]  R. Mcinnes,et al.  Differential diagnosis of cerebral palsy: Lesch-Nyhan syndrome without self-mutilation. , 1984, Canadian Medical Association journal.

[10]  A. M. Snyder,et al.  Apparent sprouting of striatal serotonergic terminals after dopamine-depleting brain lesions in neonatal rats , 1984, Brain Research.

[11]  W. Nyhan,et al.  Clonidine potentiates drug induced self-injurious behavior in rats , 1983, Pharmacology Biochemistry and Behavior.

[12]  DeLong Mr,et al.  The neurophysiologic basis of abnormal movements in basal ganglia disorders. , 1983 .

[13]  J. Davies,et al.  The involvement of 5‐hydroxytryptamine in the release of dendritic dopamine from slices of rat substantia nigra , 1983, The Journal of pharmacy and pharmacology.

[14]  N. Neff,et al.  Location of adenosine release and adenosine A2 receptors to rat striatal neurons. , 1983, Life sciences.

[15]  C. Barnes.  The basal ganglia in extrapyramidal dysfunction , 1983, Brain Research Bulletin.

[16]  J. Wilson,et al.  Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome. , 1983, The Journal of clinical investigation.

[17]  I. Kilpatrick,et al.  Interactions between dopamine and γ-aminobutyrate in the substantia nigra: Implications for the striatonigral output hypothesis , 1983, Neuroscience.

[18]  P. Groves.  A theory of the functional organization of the neostriatum and the neostriatal control of voluntary movement , 1983, Brain Research Reviews.

[19]  R. D. Green,et al.  Modulation of striatal dopaminergic function by local injection of 5'-N-ethylcarboxamide adenosine. , 1982, Science.

[20]  W. Nyhan,et al.  Lesch‐Nyhan Disease: Clinical Experience with Nineteen Patients , 1982 .

[21]  Kazuyoshi Watanabe,et al.  A female case of the Lesch-Nyhan syndrome. , 1982 .

[22]  M. Browner,et al.  Comparison of the antinociceptive effect of gamma-aminobutyric acid (GABA) agonists: evidence for a cholinergic involvement. , 1982, The Journal of pharmacology and experimental therapeutics.

[23]  K. Shannak,et al.  Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. , 1981, The New England journal of medicine.

[24]  T. Stone,et al.  Chronic methylxanthine treatment in rats: A comparison of Wistar and Fischer 344 strains , 1981, Pharmacology Biochemistry and Behavior.

[25]  W. Sweet.  Animal models of chronic pain: Their possible validation from human experience with posterior rhizotomy and congenital analgesia (Part I of the Second John J. Bonica Lecture) , 1981, PAIN.

[26]  S H Snyder,et al.  Adenosine receptors in the central nervous system: relationship to the central actions of methylxanthines. , 1981, Life sciences.

[27]  T. Stone.  Physiological roles for adenosine and adenosine 5′-triphosphate in the nervous system , 1981, Neuroscience.

[28]  S. Paul,et al.  Purines as endogenous ligands of the benzodiazepine receptor. , 1980, Federation proceedings.

[29]  P. Seeman.  Brain dopamine receptors. , 1980, Pharmacological reviews.

[30]  J. Phillis,et al.  Benzodiazepines inhibit adenosine uptake into rat brain synaptosomes , 1980, Brain Research.

[31]  W. Buckett.  Irreversible inhibitors of GABA transaminase induce antinociceptive effects and potentiate morphine , 1980, Neuropharmacology.

[32]  R. Watts,et al.  Activities of amidophosphoribosyltransferase (EC 2.4.2.14) and the purine phosphoribosyltransferases (EC 2.4.2.7 and 2.4.2.8), and the phosphoribosylpyrophosphate content of rat central nervous system at different stages of development Their possible relationship to the neurological dysfunction in t , 1980, Journal of the Neurological Sciences.

[33]  J. Liebman,et al.  Antinociceptive effects of baclofen and muscimol upon intraventricular administration. , 1980, European journal of pharmacology.

[34]  R. Watts,et al.  Problems in the Behavioural Treatment of Self‐injury in the Lesch‐Nyhan Syndrome , 1979, Developmental medicine and child neurology.

[35]  U. Francke,et al.  Utilization of Purines by an HPRT Variant in an Intelligent, Nonmutilative Patient with Features of the Lesch-Nyhan Syndrome , 1979, Pediatric Research.

[36]  M. Kupersmith,et al.  Dementia in Parkinson disease , 1979, Annals of neurology.

[37]  J. Phillis.  Diazepam potentiation of purinergic depression of central neurons. , 1979, Canadian journal of physiology and pharmacology.

[38]  W. Nyhan,et al.  Effects of L-5-hydroxytryptophan on monoamine and amino acids turnover in the Lesch-Nyhan syndrome , 1979, Journal of autism and developmental disorders.

[39]  F K Goodwin,et al.  Purinergic inhibition of diazepam binding to rat brain (in vitro). , 1979, Life sciences.

[40]  H. Goedde,et al.  Monoamine oxidase and catechol‐o‐m ethyl transferase activity in cultured fibroblasts from patients with maple syrup urine disease, Lesch‐Nyhan syndrome and healthy controls , 1979, Clinical genetics.

[41]  S. Schroeder,et al.  Prevalence of self-injurious behaviors in a large state facility for the retarded: A three-year follow-up study , 1978, Journal of autism and childhood schizophrenia.

[42]  M. Bull,et al.  Behavior Therapy for a Child with Lesch‐Nyhan Syndrome , 1978, Developmental medicine and child neurology.

[43]  H. Cann,et al.  Further Observations on the Use of 5-Hydroxytryptophan in a Child with Lesch-Nyhan Syndrome , 1978, Neuropadiatrie.

[44]  D. deCatanzaro.  Self-injurious behavior a biological analysis , 1978 .

[45]  P. Greengard.  Phosphorylated proteins as physiological effectors. , 1978, Science.

[46]  M. Ziegler,et al.  Lesch-Nyhan syndrome: low dopamine-beta-hydroxylase activity and diminished sympathetic response to stress and posture. , 1977, Science.

[47]  S. Snyder,et al.  Ontogenesis of dopamine receptor binding in the corpus striatum of the rat , 1977, Brain Research.

[48]  R. A. Harkness,et al.  Developmental changes in purine phosphoribosyltransferases in human and rat tissues. , 1976, The Biochemical journal.

[49]  S. Skaper,et al.  Hypoxanthine-guanine phosphoribosyltransferase mutant glioma cells: diminished monamine oxidase activity. , 1976, Science.

[50]  J. Dancis,et al.  The Effect of L-5-Hydroxytryptophan on Self-Mutilation in Lesch-Nyhan Disease: A Negative Report , 1976, Neuropadiatrie.

[51]  H. G. Johnson,et al.  A Behavioral Phenotype in the de Lange Syndrome , 1976, Pediatric Research.

[52]  W. Nyhan,et al.  Behavior in the Lesch-Nyhan syndrome , 1976, Journal of autism and childhood schizophrenia.

[53]  X. Breakefield,et al.  Monoamine oxidase activity decreased in cells lacking hypoxanthine phosphoribosyltransferase activity. , 1976, Science.

[54]  R. Watts,et al.  Use of phytohaemagglutinin stimulated lymphocytes to study effects of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency on polynucleotide and protein synthesis in the Lesch-Nyhan syndrome. , 1976, Journal of medical genetics.

[55]  A. Greenberg,et al.  Depressed 5-hydroxyindole levels associated with hyperactive and aggressive behavior. Relationship to drug response. , 1976, Archives of general psychiatry.

[56]  G. Rivard,et al.  Functional and Metabolic Studies of Platelets from Patients with Lesch‐Nyhan Syndrome , 1975, British journal of haematology.

[57]  E. Ritz,et al.  Letter: Life on haemodialysis. , 1975, Lancet.

[58]  S. Ueki,et al.  Automutilation induced by clonidine in mice. , 1975, European journal of pharmacology.

[59]  Y. Yugari,et al.  Prophylactic Effect of L-5-Hydroxytryptophan on Self-Mutilation in the Lesch-Nyhan Syndrome , 1975 .

[60]  R. Stone,et al.  Lesch-Nyhan Syndrome: Evidence for Abnormal Adrenergic Function , 1974, Science.

[61]  R. Watts,et al.  Clinical and biochemical studies on treatment of Lesch-Nyhan syndrome , 1974, Archives of disease in childhood.

[62]  Y. Yugari,et al.  SELF-MUTILATION IN LESCH-NYHAN SYNDROME , 1974 .

[63]  J. Minna,et al.  Purine metabolism in normal and thioguanine-resistant neuroblastoma. , 1973, Proceedings of the National Academy of Sciences of the United States of America.

[64]  R. Laessig,et al.  Adenine and Folic Acid in the Lesch-Nyhan Syndrome , 1973, Pediatric Research.

[65]  E. Kempf,et al.  Lésions du raphéet réaction d'agression interspécifique rat-souris. Effets comportementaux et biochimiques , 1973 .

[66]  R. Rahwan,et al.  Muricidal block induced by 5-hydroxytryptophan in the rat. , 1973, Archives internationales de pharmacodynamie et de therapie.

[67]  O. Hornykiewicz.  Parkinson's disease: from brain homogenate to treatment. , 1973, Federation proceedings.

[68]  G. Guroff,et al.  HYPOXANTHINE‐GUANINE‐PHOSPHORIBOSYL‐TRANSFERASE FROM RAT BRAIN (PURIFICATION, KINETIC PROPERTIES, DEVELOPMENT AND DISTRIBUTION) , 1972, Journal of neurochemistry.

[69]  W. Nyhan.  Clinical features of the Lesch-Nyhan syndrome. , 1972, Archives of internal medicine.

[70]  L. Loizou.  The postnatal ontogeny of monoamine-containing neurones in the central nervous system of the albino rat. , 1972, Brain research.

[71]  J. Crawhall,et al.  Diagnosis and Treatment of the Lesch-Nyhan Syndrome , 1972, Pediatric Research.

[72]  R. A. Harkness,et al.  The development of hypoxanthine-guanine phosphoribosyltransferase activity in man. , 1971, The Biochemical journal.

[73]  G. Vogels,et al.  CONCENTRATION OF PURINE NUCLEOTIDES IN ERYTHROCYTES OF PATIENTS WITH THE LESCH‐NYHAN SYNDROME BEFORE AND DURING ORAL ADMINISTRATION OF ADENINE , 1971, Acta paediatrica Scandinavica.

[74]  W. Nyhan,et al.  Self-mutilative behavior in the Cornelia de Lange syndrome. , 1971, American journal of mental deficiency.

[75]  G. Chiara,et al.  Evidence for Inhibition by Brain Serotonin of Mouse Killing Behaviour in Rats , 1971, Nature.

[76]  W. N. Kelley,et al.  Phosphoribosylpyrophosphate in man: biochemical and clinical significance. , 1971, Annals of internal medicine.

[77]  G. Paulson,et al.  The rigid form of Huntington's chorea , 1971, Neurology.

[78]  W. Fujimoto,et al.  Adenine Therapy for Lesch-Nyhan Syndrome , 1971, Pediatric Research.

[79]  J. Dobbing.  Undernutrition and the developing brain. The relevance of animal models to the human problem. , 1970, Bibliotheca nutritio et dieta.

[80]  L. H. Dizmang,et al.  The Lesch-Nyhan syndrome. , 1970, The American journal of psychiatry.

[81]  W. Nyhan,et al.  Detailed comparison of the urinary excretion of purines in a patient with the Lesch-Nyhan syndrome and a control subject. , 1970, Biochemical medicine.

[82]  K. Raivio,et al.  Lesch-Nyhan Syndrome: Preventive Control by Prenatal Diagnosis , 1970, Science.

[83]  P. Salt,et al.  Regional changes in monoamines of the rat brain during postnatal development. , 1970, Brain research.

[84]  J. Trijbels,et al.  THE INFLUENCE OF ADENINE ON THE CLINICAL FEATURES AND PURINE METABOLISM IN THE LESCH‐NYHAN SYNDROME , 1970, Acta paediatrica Scandinavica.

[85]  L. Sorensen.  Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency. , 1970, The Journal of clinical investigation.

[86]  K Fuxe,et al.  Evidence for a central noradrenaline receptor stimulation by clonidine. , 1970, Life sciences.

[87]  S. Appel,et al.  Synthesis de novo of purines in slices of rat brain and liver 1 , 1970, Journal of neurochemistry.

[88]  A. Scherzer,et al.  Normal intelligence in the Lesch-Nyhan syndrome. , 1969, Pediatrics.

[89]  T. Krenitsky.  Tissue distribution of purine ribosyl- and phosphoribosyltransferases in the Rhesus monkey. , 1969, Biochimica et biophysica acta.

[90]  I. Held,et al.  OBSERVATIONS ON PURINE METABOLISM IN RAT BRAIN , 1969, Journal of neurochemistry.

[91]  J. F. Henderson,et al.  An enzymatic basis for the inability of erythrocytes to synthesize purine ribonucleotides de novo. , 1969, Biochimica et biophysica acta.

[92]  R. Demars,et al.  Purine requirement of cells cultured from humans affected with Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase deficiency). , 1969, Proceedings of the National Academy of Sciences of the United States of America.

[93]  H. Reiter,et al.  Self-mutilative behavior in verbal and nonverbal schizophrenic children. , 1968, Archives of general psychiatry.

[94]  M. Winick.  Changes in Nucleic Acid and Protein Content of the Human Brain During Growth , 1968, Pediatric Research.

[95]  W. Fujimoto,et al.  Biochemical diagnosis of an X-linked disease in utero. , 1968, Lancet.

[96]  J. Baum,et al.  Lesch-Nyhan syndrome treated from the early neonatal period. , 1968, Pediatrics.

[97]  Rosenbloom Fm.  Possible mechanism for increased purine biosynthesis de novo in Lesch-Nyhan syndrome. , 1968 .

[98]  L. Sweetman.  Urinary and cerebrospinal fluid oxypurine levels and allopurinol metabolism in the Lesch-Nyhan syndrome. , 1968, Federation proceedings.

[99]  L. Monnens,et al.  Megaloblastic anaemia in the Lesch-Nyhan syndrome. , 1968, Lancet.

[100]  H. Holmsen,et al.  Adenine nucleotide metabolism of blood platelets. 3. Adenine phosphoribosyl transferase and nucleotide formation from exogenous adenine. , 1968, Biochimica et biophysica acta.

[101]  J. Seegmiller,et al.  Biochemical bases of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine-guanine phosphoribosyltransferase. , 1968, The Journal of biological chemistry.

[102]  J. Seegmiller,et al.  Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects. , 1967, JAMA.

[103]  D. Ford,et al.  H3 ACCUMULATION IN SPINAL CORD NEURONS FOLLOWING INTRAVENOUS INJECTION OF ADENINE‐H3 AS DETERMINED BY LIQUID SCINTILLATION COUNTING PROCEDURES ON DISSECTED NEURONS 1 , 1967, Acta neurologica Scandinavica.

[104]  J M Peters,et al.  Caffeine-induced hemorrhagic automutilation. , 1967, Archives internationales de pharmacodynamie et de therapie.

[105]  A. Green.  Self-mutilation in schizophrenic children. , 1967, Archives of general psychiatry.

[106]  J. Seegmiller,et al.  Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis , 1967, Science.

[107]  F. Dreifuss,et al.  Treatment of x-linked primary hyperuricemia with allopurinol. , 1966, JAMA.

[108]  H. Itabashi,et al.  Juvenile gout with brain involvement. , 1965, Archives of neurology.

[109]  U. Al-Khalidi,et al.  The species distribution of xanthine oxidase. , 1965, The Biochemical journal.

[110]  W. Nyhan,et al.  A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION. , 1964, The American journal of medicine.

[111]  I. London,et al.  The biosynthesis of adenosine triphosphate and guanosine triphosphate in the rabbit erythrocyte in vivo and in vitro. , 1960, The Journal of biological chemistry.

[112]  L. Lajtha,et al.  Dependence of Bone Marrow Cells on the Liver for Purine Supply , 1958, Nature.

[113]  M. Piccirilli,et al.  Characteristic clinical aspects of Parkinson patients with intellectual impairment. , 1984, European neurology.

[114]  D. Sibley,et al.  CNS Dopamine Receptors , 1983 .

[115]  C. Su.  Purinergic neurotransmission and neuromodulation. , 1983, Annual review of pharmacology and toxicology.

[116]  R. Watts,et al.  Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the Neurological manifestations. , 1982, The Quarterly journal of medicine.

[117]  M. Cataldo,et al.  The biological basis for self-injury in the mentally retarded , 1982 .

[118]  Mark H Lewis,et al.  Stereotyped Mannerisms in Mentally Retarded Persons: Animal Models and Theoretical Analyses , 1982 .

[119]  K. Jones,et al.  Serotonergic approaches to the modification of behavior in the Lesch-Nyhan Syndrome. , 1980, Applied research in mental retardation.

[120]  I. Kaufman,et al.  Altered excreton of 5-hydroxyindoleacetic acid and glycine in patients with the Lesch-Nyhan disease. , 1977, Advances in experimental medicine and biology.

[121]  R. O. Mckeran.  Factors in the pathogenesis of the brain damage and anaemia in the Lesch-Nyhan syndrome. , 1977, Ciba Foundation symposium.

[122]  R. Oishi,et al.  Possible involvement of a central noradrenergic system in automutilation induced by clonidine in mice. , 1977, Japanese journal of pharmacology.

[123]  H. Cann,et al.  The use of 5-hydroxytryptophan in a child with Lesch-Nyhan syndrome , 1976, Child psychiatry and human development.

[124]  G. Pasero,et al.  Behavioural changes during adenine therapy in Lesch-Nyhan syndrome. , 1974, Advances in experimental medicine and biology.

[125]  T Sakata,et al.  Stereotyped and aggressive behavior induced by sustained high dose of theophylline in rats. , 1973, Japanese journal of pharmacology.

[126]  J. Seegmiller,et al.  Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout , 1969 .

[127]  J. Dancis,et al.  Congenital hyperuricemia. An inborn error of purine metabolism associated with psychomotor retardation, athetosis, and self-mutilation. , 1969, Archives of neurology.

[128]  W. Nyhan,et al.  Genetics of an X-Linked Disorder of Uric Acid Metabolism and Cerebral Function , 1967, Pediatric Research.