Adrenergic and noradrenergic plasma levels in Lesch-Nyhan disease

Neuropsychopharmacology

Volumn 22, Issue 3, 2000, Pages 320-326

  Ernst, Monique ^a,d   Zametkin, Alan J ^a   Pascualvaca, Daisy ^b   Matochik, John A ^a   Eisenhofer, Graeme ^c   Murphy, Dennis L ^a   Cohen, Robert M ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^b Lab of Psychol and Psychopathology   (United States)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^d NATIONAL INSTITUTE ON DRUG ABUSE   (United States)

Author keywords

Aggression; DHPG; Epinephrine; HPRT; Lesch Nyhan disease; Self injurious behaviour

Indexed keywords

4 HYDROXY 3 METHOXYPHENYLETHYLENE GLYCOL; ADRENALIN; AMINE OXIDASE (FLAVIN CONTAINING) ISOENZYME A; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; NORADRENALIN;

ADOLESCENT; ADRENALIN BLOOD LEVEL; ARTICLE; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; COGNITION; CONTROLLED STUDY; ENZYME ACTIVITY; HUMAN; INTELLIGENCE QUOTIENT; LESCH NYHAN SYNDROME; NORADRENALIN BLOOD LEVEL; NORADRENERGIC SYSTEM; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGE FACTORS; BLOOD PRESSURE; CHILD; EPINEPHRINE; HUMANS; LESCH-NYHAN SYNDROME; METHOXYHYDROXYPHENYLGLYCOL; MULTIVARIATE ANALYSIS; NOREPINEPHRINE; PULSE; REFERENCE VALUES;

EID: 0033962762     PISSN: 0893133X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0893-133X(99)00119-0     Document Type: Article

References (38)

1. Diagnostic and statistical manual of mental disorders. 3rd ed (revised). 1987;American Psychiatric Association Press, Washington, DC.
2. Anderson L.T., Ernst M. Self-injury in Lesch-Nyhan Disease. J Autism Dev Disord. 24:1994;67-81.
3. Anderson L.T., Ernst M., Davis S.V. Cognitive abilities of patients with Lesch-Nyhan Disease. J Autism Dev Disord. 22:1992;189-203.
4. Breakefield X.O., Castiglione C.M., Edelstein S.B. Monoamine oxidase activity decreased in cells lacking hypoxanthine phosphoribosyltransferase activity. Science. 192:1976;1018-1020.
5. Breese G.R. Neonatal-6-hydroxydopamine treatment. Model of susceptibility for self-mutilation in the Lesch-Nyhan syndrome Pharmacol Biochem Behav. 21:1984;459-461.
6. Brunner H., Nelen M., Breakfield X., Ropers H., Van Oost A. Abnormal behavior associated with a point mutation in the structural gene for monamine oxidase A. Science. 22:1993;578-580.
7. Cases O., Seif I., Grimsby J., Gaspar P., Chen K., Pournin S., Muller U., Aguet M., Babinet C., Shih J.C., De Maeyer E. Aggressive behavior and altered amounts of brain serotonin and norepinephrine in mice lacking MAOA. Science. 268:1995;1763-1766.
8. Coccaro E.F. Neurotransmitter correlates of impulsive aggression in humans. Ann NY Acad Sci. 20(794):1996;82-89.
9. Dunnett S.B., Sirinathsinghji D.J., Heavens R., Rogers D.C., Kuehn M.R. Monoamine deficiency in a transgenic (Hprt-) mouse model of Lesch-Nyhan syndrome. Brain Res. 501:1989;401-406.
10. Eisenhofer G. Simultaneous liquid-chromatographic determination of 3,4-dihydroxyphenylglycol, catecholamines, and 3,4-dihydroxyphenylalanine in plasma, and their responses to inhibition of monoamine oxidase. Clin Chem. 32:1986;2030-2033.
11. Elwood S.W. Catecholamine response of children in a naturally occurring stressor situation. J Human Stress. 12:1986;154-161.
12. Endicott J., Spitzer R.L. A diagnostic interview. The schedule for affective disorders and schizophrenia Arch Gen Psychiatry. 35:1978;837-844.
13. Ernst M., Zametkin A.J., Matochik J.A., Pascualvaca D., Jons P.H., Hardy K., Hankerson J.G., Doudet D.D., Cohen R.M. Presynaptic dopaminergic deficits in Lesch-Nyhan Disease. N Engl J Med. 334:1996;1568-1604.
14. Finlay J.M. Increased dopamine and norepinephrine release in medial prefrontal cortex induced by acute and chronic stress. Effects of diazepam Neuroscience. 64:1995;619-628.
15. Gerra G., Avanzini P., Zaimovic A., Fertonani G., Caccavari R., Delsignore R., Gardini F., Talarico E., Lecchini R., Maestri D., Brambilla F. Neurotransmitter and endocrine modulation of aggressive behavior and its components in normal humans. Behav Brain Res. 81:1996;19-24.
16. Glavin G.B. Effects of altered brain noradrenaline level on acute stress pathology in rats. Kurume Med J. 30:1983;31-34.
17. Goldstein M. Dopamine agonist induced self-mutilative biting behavior in monkeys with unilateral ventromedial tegmental lesions of the brainstem. Possible pharmacological model for Lesch-Nyhan syndrome Brain Res. 367:1986;114-120.
18. Haller J., Makara G.B., Kruk M.R. Catecholaminergic involvement in the control of aggression. Hormones, the peripheral sympathetic, and central noradrenergic systems Neurosci Biobehav Rev. 22:1998;85-97.
19. Hollingshead AB, Redlich F (1958): The two-factor index of social position. In Social Class and Mental Illness. New York, NY, Wiley.
20. Jankovic J., Caskey T.C., Stout T., Butler I.J. Lesch-Nyhan syndrome. A study of motor behavior and cerebrospinal fluid neurotransmitters Ann Neurol. 23:1988;466-469.
21. Jinnah H.A., Wojcik B.E., Hunt M., Narang N., Lee K.Y., Goldstein M., Wamsley J.K., Langlais P.J., Friedmann T. Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease. J Neurosci. 14:1994;1164-1175.
22. Lake C.R., Ziegler M.G. Lesch-Nyhan syndrome. Low dopamine-β-hydroxylase activity and diminished sympathetic response to stress and posture Science. 196:1977;905-906.
23. Lesch M., Nyhan W.L. A familial disorder of uric acid metabolism and central nervous system function. Am J Med. 36:1964;561-570.
24. Lloyd K.G., Hornykiewicz O., Davidson L., Shannak K., Farley I., Goldstein M., Shibuya M., Kelley W.N., Fox I.H. Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. N Engl J Med. 305:1981;1106-1111.
25. Matthews W.S., Solan A., Barabas G. Cognitive functioning in Lesch-Nyhan syndrome. Dev Med Child Neurol. 37:1995;715-722.
26. Murphy D.L. Plasma amine oxidase activities in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase. J Neural Transm Gen Sect. 83:1991;1-12.
27. Reich W., Welner Z. Diagnostic Interview for Children, Adolescents, and Parents. 1988;Washington University, St. Louis, MO.
28. Rockson S. Lesch-Nyhan syndrome. evidence for abnormal adrenergic function Science. 186:1974;934-935.
29. Rossiter B.J.F., Caskey C.T. Hypoxanthine-guanine phosphoribosyltransferase deficiency. Lesch-Nyhan syndrome and gout Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The Metabolic and Molecular Bases of Inherited Disease. 7th ed:1994;1679-1706 McGraw-Hill, New York.
30. Silverstein F.S., Johnston M.V., Hutchinson R.J., Edwards L. Lesch-Nyhan syndrome. CSF neurotransmitter abnormalities Neurology. 35:1985;907-911.
31. Stone E.A. Adaptation to stress and brain noradrenergic receptors. Neurosci Biobehav Rev. 7:1983;503-509. a.
32. Stone E.A. Adaptation to stress. Tyrosine hydroxylase activity and catecholamine release Neurosci Biobehav Rev. 7:1983;29-34. b.
33. Thorndike R.L., Hagen E.P., Sattler J.M. The Stanford-Binet Intelligence Scale. 4th ed:1986;Chicago Publishing Company, Riverside.
34. van Doornen L.J. The relationship between cardiovascular and catecholamine reactions to laboratory and real-life stress. Psychophysiology. 29:1992;173-181.
35. Watts R.W. Lesch-Nyhan syndrome. Growth delay, testicular atrophy and a partial failure of the 11 beta-hydroxylation of steroids J Inherit Metab Dis. 10:1987;210-223.
36. Wechsler D. WAIS-R. Wechsler Adult Intelligence Scale - Revised:1981;The Psychological Corporation, New York: New York, NY.
37. Wechsler D. WISC-R Manual. Wechsler Intelligence Scale for Children - Revised:1974;The Psychological Corporation, New York, NY.
38. Wong D.F., Harris J.C., Naidu S., Yokoi F., Marenco S., Dannals R.F., Ravert H.T., Yaster M., Evans A., Rousset O., Bryan R.N., Gjedde A., Kuhar M.J., Breese G.R. Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. Proc Natl Acad Sci USA. 93:1996;5539-5543.