Cerebrospinal Fluid Cyclic Nucleotide Alterations in the Lesch-Nyhan Syndrome

  • N. Lawrence Edwards
  • Michael V. Johnston
  • Faye S. Silverstein
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 253A)


Attempts to explain the mechanisms responsible for the various neurologic manifestations of the Lesch-Nyhan syndrome have been hampered by an incomplete understanding of the neurochemical and purinergic derangements that exist in the central nervous systems of these boys. We have serially monitored cerebrospinal fluid (CSF) in 4 subjects with the Lesch-Nyhan syndrome to investigate the correlation of clinical neurologic manifestations with either excesses or deficiencies of monoamine transmitter or purine metabolites. We have previously reported our findings of altered monoamine metabolites in the Lesch-Nyhan spinal fluids (1) as well as the correlation of these abnormalities with elevations of purine bases in the CSF (2). Other spinal fluid studies in these patients addressed the effect of allopurinol therapy on spinal fluid levels of hypoxanthine and xanthine (3). We have extended our inquiry into the abnormalities of Lesch-Nyhan spinal fluid by measuring cyclic nucleotide (cyclic AMP and cyclic GMP) levels.


Cyclic Nucleotide Spinal Fluid Level Cyclic Nucleotide Level Purine Metabolite HPRT Deficiency 
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  1. 1.
    Silverstein, F.S., Johnston, M.V., Hutchinson, R.J., and Edwards, N.L., 1985, Lesch-Nyhan syndrome: CSF neurotransmitter abnormalities, Neurology, 35: 907.PubMedCrossRefGoogle Scholar
  2. 2.
    Edwards, N.L., Silverstein, F.S., and Johnston, M.V., 1986, Purine and monoamine metabolites in cerbrospinal fluid, Adv Exper Med Biol 195B: 53.Google Scholar
  3. 3.
    Edwards, N.L., Puig, J.G., and Mateos, F.A., 1986, The effect of allopurinol on cerebrospinal fluid (CSF) purines in hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency syndromes, Adv Exper Med Biol, 195A: 465.CrossRefGoogle Scholar
  4. 4.
    Nathanson, J.A., 1977, Cyclic nucleotides and nervous system function, Physiol Rev, 57: 157.PubMedGoogle Scholar
  5. 5.
    McAfee, D.A., Henon, B.K., Whiting, G.J., Horn, J.P., Yarowsky, P.J., and Turner, D.K., 1980, The action of cAMP and catecholamines in mammalian sympathetic ganglia, Fed Proc, 39: 2997.PubMedGoogle Scholar
  6. 6.
    Dunwiddie, T.V., 1985, The physiological role of adenosine in the central nervous system, Internat Rev Neurobiol, 27: 63.CrossRefGoogle Scholar
  7. 7.
    Goldberg, N.D., Haddox, M.K., Nicol, S.E., Glass, D.B., Sanford, C.H., Kuehl, F.A., and Estensen, R., 1975, Biologic regulation through opposing influences of cyclic GMP and cyclic AMP: the Yin Yang hypothesis, Advan Cycl Nucleot Res, 5: 307.Google Scholar
  8. 8.
    Cramer, H., Water, J-M., and Renaud, B., 1984, Analysis of neurotransmitter metabolites and adenosine 3′, 5′-monophosphate in the CSF of patients with extrapyramidal motor disorders, Adv Neurol, 40: 431.PubMedGoogle Scholar
  9. 9.
    Gattaz, W.F., Cramer, H., and Beckmann, H., 1984, Haioperidol increases the cerebrospinal fluid concentration of cyclic GMP in schizophrenic patients, Biol Psych, 19: 1229.Google Scholar

Copyright information

© Plenum Press, New York 1989

Authors and Affiliations

  • N. Lawrence Edwards
    • 1
    • 2
  • Michael V. Johnston
    • 3
  • Faye S. Silverstein
    • 3
  1. 1.Department of MedicineUniversity of FloridaGainesvilleUSA
  2. 2.The Veterans Administration Medical CenterGainesvilleUSA
  3. 3.Departments of Neurology and PediatricsUniversity of MichiganAnn ArborUSA

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