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Purine Metabolism in Friedreich's Ataxia

Published online by Cambridge University Press:  18 September 2015

P. Draper ,
B. Lemieux ,
I. H. Fox  and
D. Shapcott
P. Draper
Affiliation:
Le Centre Hospitalier Universitaire de Sherbrooke and the Purine Research Laboratory, Wellesley Hospital, Toronto
B. Lemieux
Affiliation:
Le Centre Hospitalier Universitaire de Sherbrooke and the Purine Research Laboratory, Wellesley Hospital, Toronto
I. H. Fox
Affiliation:
Le Centre Hospitalier Universitaire de Sherbrooke and the Purine Research Laboratory, Wellesley Hospital, Toronto
D. Shapcott
Affiliation:
Le Centre Hospitalier Universitaire de Sherbrooke and the Purine Research Laboratory, Wellesley Hospital, Toronto
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Summary:

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In a detailed investigation of nucleotide synthesis, intercom'ersion and degradation, no difference was found between subjects with Friedreich's Ataxia and normal controls. It appears improbable that this disorder is related to a primary defect in purine metabolism.

Type
Quebec Cooperative Study of Friedreich's Ataxia
Information
Canadian Journal of Neurological Sciences , Volume 5 , Issue 1 , February 1978 , pp. 143 - 147
Copyright
Copyright © Canadian Neurological Sciences Federation 1978

References

REFERENCES

Berlin, R.D. (1969). Purine: Active transport by isolated choroid plexus. Science, 163, 1194.Google Scholar
Coleman, M., Langrebe, M. and Langrebe, A. (1974). Progressive seizures with hyperuricosuria reversed by allopurjnol. Arch. Neurol., 31, 238–242.Google Scholar
Draper, P., Lemieux, B. and Shapcott, D. (1978). Measurement of purine and their metabolites in biological materials by high pressure liquid chromatography (HPLC). To be published.Google Scholar
Farstad, M., Haug, J.O., Linkbak, H. and Skaug, O.E. (1965a). Uric acid in the cerebrospinal fluid in cerebral atrophy. Acta Neurol. Scand., 41, 52–58.Google Scholar
Haslam, R.H.A. and Clark, D. B. (1971). Progressive cerebellar ataxia associated with Hand-Schuller-Christian Disease. Rev. Med. Child Neurol., 13, 174–179.Google Scholar
Henderson, J.F., Fraser, J.A. and McCoy, E. (1974). Methods for the study of purine metabolism in human cells in vitro. Clin. Biochem. 7, 339–358.Google Scholar
Henry, R.J., Cannon, D.C. and Winkelman, J. W. (eds) (1974). Clinical Chemistry: Principles and Technics, 2nd edition, Harper and Row, New York, p. 528.Google Scholar
Kelley, W.N., Greene, M.L. and Rosenbloom, F. M. (1969). Hypoxan-thineguanine phosphoribosyltransferase deficiency in gout. Ann. Intern. Med., 70, 155–206.Google Scholar
Lemieux, B. and Shapcott, D. (1973). Purine metabolism in Huntington’s Chorea. In: Huntington’s Chorea 1872–1972, edited by Barbeau, A., Chase, T. N. and Paulson, G. W. Vol. 1, Advances in Neurology, Raven Press, New York.Google Scholar
Lesch, M. and Nyhan, L. (1964). A familial disorder of uric acid metabolism and central nervous system function. Amer. J. Med., 36, 561–570.Google Scholar
Nakagawa, S. and Guroff, G. (1973). The uptake of purine by rat brain in vivo and in vitro. J. Neurochem., 20, 1143–1149.Google Scholar
Nyhan, W. (1977). Ataxia and disorders of purine metabolism (abstracts). Symposium on Inherited Ataxias, Los Angeles, Cal., Nov. 2–4.Google Scholar
O’Brien, D., Ibbott, F.A. and Rodgerson, D.O. (eds) (1968). Laboratory Manual of Pediatric Micro-Biochemical Techniques, 4th edition, Harper and Row, New York, p. 111.Google Scholar
Rosembloom, F.A., Kelley, W. N., Miller, J. (1967). Inherited disorder of purine metabolism: Correlation between central nervous system dysfunction and biochemical defects. J. Amer. Med. Ass., 202, 175–177.Google Scholar
Rosenberg, A. L., Bergstrom, L., Troost, B.T. (1970). Hyperuricemia and neurologic deficits. A family study. New Engl. J. Med., 282, 992–997.Google Scholar
Seegmiller, J.E. (1974). Diseases of purine and pyrimidine metabolism. In: Duncan’s Disease of Metabolism, edited by Bondy, P.K. and Rosenberg, L. E.. Philadelphia, Saunders.Google Scholar
Silbernagel, G., Lang, F. and Greger, R. (eds) (1977). Amino acid transport and uric acid transport. Georg Thieme, Stuttgart.Google Scholar
Thomson, W. H. S. and Smith, I. (1976). X-linked recessive (Duchenne) muscular dystrophy and purine metabolism. Lancet, 1, 805–806.Google Scholar
Tietz, N. W. (ed) (1970). Fundamentals of Clinical Chemistry. Saunders, Philadelphia, p. 726.Google Scholar