Presynaptic dopaminergic deficits in Lesch-Nyhan disease

New England Journal of Medicine

Volumn 334, Issue 24, 1996, Pages 1568-1572

  Ernst, Monique ^a,d   Zametkin, Alan J ^a   Matochik, John A ^a   Pascualvaca, Daisy ^a   Jons, Peter H ^a   Hardy, Kristina ^a   Hankerson, James G ^b   Doudet, Doris J ^c   Cohen, Robert M ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d Laboratory of Cerebral Metabolism   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGGRESSION; ARTICLE; AUTOMUTILATION; CASE REPORT; CHOREOATHETOSIS; CONTROLLED STUDY; DOPAMINE RELEASE; DOPAMINERGIC NERVE CELL; DYSTONIA; HUMAN; LESCH NYHAN SYNDROME; MALE; PRIORITY JOURNAL; PURINE SYNTHESIS; SCHOOL CHILD; UREMIA;

ADOLESCENT; ADULT; ANALYSIS OF VARIANCE; BRAIN; BRAIN CHEMISTRY; CAUDATE NUCLEUS; CEREBRAL CORTEX; CHILD; DIHYDROXYPHENYLALANINE; FEMALE; FLUORINE RADIOISOTOPES; HUMANS; LESCH-NYHAN SYNDROME; MALE; PRESYNAPTIC TERMINALS; PUTAMEN; RECEPTORS, DOPAMINE; RECEPTORS, PRESYNAPTIC; TOMOGRAPHY, EMISSION-COMPUTED;

EID: 0029889462     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199606133342403     Document Type: Article

References (39)

1. Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med 1964;36:561-70.
2. 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;305:1106-11.
3. Lake CR, Ziegler MG. Lesch-Nyhan syndrome: low dopamine-beta-hydroxylase activity and diminished sympathetic response to stress and posture. Science 1977;196:905-6.
4. Jankovic J, Caskey TC, Stout JT, Butler IJ. Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters. Ann Neurol 1988;23:466-9.
5. Silverstein FS, Johnston MV, Hutchinson RJ, Edwards NL. Lesch-Nyhan syndrome: CSF neurotransmitter abnormalities. Neurology 1985;35:907-11.
6. Goldstein M, Kuga S, Kusano N, Meller E, Dancis J, Schwarcz R. 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 1986;367:114-20.
7. Breese GR, Baumeister AA, McCown TJ, Emerick SG, Frye GD, Mueller RA. Neonatal-6-hydroxydopamine treatment: model of susceptibility for self-mutilation in the Lesch-Nyhan syndrome. Pharmacol Biochem Behav 1984;21:459-61.
8. Hooper M, Hardy K, Handyside A, Hunter S, Monk M. HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells. Nature 1987;326:292-5.
9. Kuehn MR, Bradley A, Robertson EJ, Evans MJ. A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice. Nature 1987;326:295-8.
10. Dunnett SB, Sirinathsinghji DJ, Heavens R, Rogers DC, Kuehn MR. Monoamine deficiency in a transgenic (Hprt-) mouse model of Lesch-Nyhan syndrome. Brain Res 1989;501:401-6.
11. Jinnah HA, Wojcik BE, Hunt M, et al. Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease. J Neurosci 1994;14:1164-75.
12. Gjedde A, Wong DF, Harris J, et al. Quantification of D1 and D2 dopamine receptors in Lesch-Nyhan syndrome as measured by positron tomography. Soc Neurosci 1986;12:133.7. abstract.
13. Harris J, Wong DF, Yaster M, et al. Clinical investigation of the dopamine hypothesis of self-injurious behavior in the Lesch-Nyhan syndrome. Soc Neurosci 1991;17:266.13. abstract.
14. 11C-WIN 35,428 in Lesch-Nyhan syndrome. Soc Neurosci 1992;18:7.1. abstract.
15. Harris J, Schretlen D, Wong D. Reduced dopamine transporter binding and the Lesch-Nyhan behavioral phenotype. In: Scientific proceedings and abstracts of the 41st Annual Meeting of the American Academy of Child and Adolescent Psychiatry, New York, October 24-30, 1994. Vol. 10. Washington, D.C.: American Academy of Child and Adolescent Psychiatry, 1994: NR-35. abstract.
16. Reich W, Welner Z. Diagnostic interview for children, adolescents, and parents. Rev. ed. St. Louis: Washington University Press, 1988.
17. Diagnostic and statistical manual of mental disorders, 3rd ed. rev.: DSM-III-R. Washington, D.C.: American Psychiatric Association, 1987.
18. Anderson LT, Ernst M, Davis SV. Cognitive abilities of patients with Lesch-Nyhan disease. J Autism Dev Disord 1992;22:189-203.
19. Anderson LT, Ernst M. Self-injury in Lesch-Nyhan disease. J Autism Dev Disord 1994:24:67-81.
20. Thorndike RL, Hagen EP, Sattler JM. The Stanford-Binet intelligence scale. 4th ed. Chicago: Riverside, 1986.
21. McLellan CA, Doudet DJ, Brucke T, Aigner TG, Cohen RM. New rapid analysis method demonstrates differences in 6-[18F]fluoro-L-dopa plasma input curves with and without carbidopa and in hemi-MPTP lesioned monkeys. Appl Radiat Isot 1991;42:847-54.
22. Doudel DJ, McLellan CA, Aigner TG, Wyatt RJ, Cohen RM. Delayed L-phenylalanine infusion allows for simultaneous kinetic analysis and improved evaluation of specific-to-nonspecific fluorine-18-dopa uptake in the brain. J Nucl Med 1992;33:1383-9.
23. Boyes BE, Cumming P, Martin WR, McGeer EG. Determination of plasma [18F]-6-fluorodopa during positron emission tomography: elimination and metabolism in carbidopa treated subjects. Life Sci 1986;39:2243-52.
24. 18F-dopa: interpretation and biological correlates in nonhuman primates. Psychiatry Res 1992;45:153-68.
25. Matsui T, Hirano A. An atlas of the human brain for computerized tomography. New York: Igaku-Shoin, 1978.
26. Semple WE, Johnson JL, Cohen R. Inter-rater reliability in positron emission tomography image analysis. In: London ED, ed. Imaging drug action in the brain. Boca Raton, Fla.: CRC Press, 1993:297-316.
27. The index of social position. In: Hollingshead AB, Redlich FC. Social class and mental illness: a community study. New York: John Wiley, 1958:387-97.
28. Wechsler D. WAIS-R: Wechsler adult intelligence scale. Rev. ed. New York: Psychological Corporation, 1981.
29. Idem. WISC-III: Wechsler intelligence scale for children. 3rd ed. San Antonio, Tex.: Psychological Corporation, 1974.
30. Tanner JM. Growth at adolescence: with a general consideration of the effects of hereditary and environmental factors upon growth and maturation from birth to maturity. 2nd ed. Oxford, England: Blackwell Scientific, 1962.
31. Brooks DJ, Ibanez V, Sawle GV, et al. Differing patterns of striatal 18F-dopa uptake in Parkinson's disease, multiple system atrophy, and progressive supranuclear palsy. Ann Neurol 1990;28:547-55.
32. Leenders KL, Salmon EP, Tyrrell P, et al. The nigrostriatal dopaminergic system assessed in vivo by positron emission tomography in healthy volunteer subjects and patients with Parkinson's disease. Arch Neurol 1990;47: 1290-8.
33. Sawle GV, Wroe SJ, Lees AJ, Brooks DJ, Frackowiak RS. The identification of presymptomatic parkinsonism: clinical and [18F]dopa positron emission tomography studies in an Irish kindred. Ann Neurol 1992;32:609-17.
34. Olson L, Boreus LO, Seiger A. Histochemical demonstration and mapping of 5-hydroxytryptamine- and catecholamine-containing neuron systems in the human fetal brain. Z Anat Entwicklungsgesch 1973;139:259-82.
35. Freeman TB, Spence MS, Boss BD, et al. Development of dopaminergic neurons in the human substantia nigra. Exp Neurol 1991;113:344-53.
36. Silani V, Mariani D, Donato FM, et al. Development of dopaminergic neurons in the human mesencephalon and in vitro effects on basic fibroblast growth factor treatment. Exp Neurol 1994;128:59-76.
37. Casas-Bruge M, Almenar C, Grau IM, Jane J, Herrera-Marschitz M, Ungerstedt U. Dopaminergic receptor supersensitivity in self-mutilatory behaviour of Lesch-Nyhan disease. Lancet 1985;1:991-2.
38. 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 manifestation. Q J Med 1982;51:43-78.
39. Alexander GE, Crutcher MD. Functional architecture of basal ganglia circuits: neural substrates of parallel processing. Trends Neurosci 1990;13: 266-71.