Skip to main content
PMC home page
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1981 Jul;44(7):574–580. doi: 10.1136/jnnp.44.7.574

Biochemical and clinical studies of Friedreich's ataxia

P Purkiss 1, M Baraitser 1, O Borud 1, R A Chalmers 1
PMCID: PMC491061  PMID: 7026736

Abstract

A series of biochemical tests aimed at elucidating the fundamental cause has been applied to 20 patients with Friedreich's ataxia. Special emphasis was placed upon pyruvate metabolism. The results demonstrate no precisely identifiable defect in the metabolism of pyruvate but indicate an abnormality in glucose uptake and metabolism.

Full text

PDF
574

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Andermann E., Remillard G. M., Goyer C., Blitzer L., Andermann F., Barbeau A. Genetic and family studies in Friedreich's ataxia. Can J Neurol Sci. 1976 Nov;3(4):287–301. doi: 10.1017/s0317167100025476. [DOI] [PubMed] [Google Scholar]
  2. Barbeau A., Breton G., Lemieux B., Butterworth R. F. Bilirubin metabolism - preliminary investigation. Can J Neurol Sci. 1976 Nov;3(4):365–372. doi: 10.1017/s0317167100025610. [DOI] [PubMed] [Google Scholar]
  3. Barbeau A., Butterworth R. F., Ngo T., Breton G., Melançon S., Shapcott D., Geoffroy G., Lemieux B. Pyruvate metabolism in Friedreich's ataxia. Can J Neurol Sci. 1976 Nov;3(4):379–388. doi: 10.1017/s0317167100025634. [DOI] [PubMed] [Google Scholar]
  4. Barbeau A. Friedreich's Ataxia 1978--an overview. Can J Neurol Sci. 1978 Feb;5(1):161–165. [PubMed] [Google Scholar]
  5. Barbeau A. Friedreich's ataxia 1979: an overview. Can J Neurol Sci. 1979 May;6(2):311–319. doi: 10.1017/s0317167100119821. [DOI] [PubMed] [Google Scholar]
  6. Barbeau A. Friedreich's ataxia 1980. An overview of the physiopathology. Can J Neurol Sci. 1980 Nov;7(4):455–468. doi: 10.1017/s0317167100023064. [DOI] [PubMed] [Google Scholar]
  7. Barbeau A., Melançon S., Butterworth R. F., Filla A., Izumi K., Ngo T. T. Pyruvate dehydrogenase complex in Friedreich's ataxia. Adv Neurol. 1978;21:203–217. [PubMed] [Google Scholar]
  8. Blass J. P., Kark R. A., Menon N. K. Low activities of the pyruvate and oxoglutarate dehydrogenase complexes in five patients with Friedreich's ataxia. N Engl J Med. 1976 Jul 8;295(2):62–67. doi: 10.1056/NEJM197607082950202. [DOI] [PubMed] [Google Scholar]
  9. Carroll W. M., Kriss A., Baraitser M., Barrett G., Halliday A. M. The incidence and nature of visual pathway involvement in Friedreich's ataxia. A clinical and visual evoked potential study of 22 patients. Brain. 1980 Jun;103(2):413–434. doi: 10.1093/brain/103.2.413. [DOI] [PubMed] [Google Scholar]
  10. Chalmers R. A., Lawson A. M., Borud O. Gas chromatographic and mass spectrometric studies on urinary organic acids in a patient with congenital lactic acidosis due to pyruvate decarboxylase deficiency. Clin Chim Acta. 1977 Jun 1;77(2):117–124. doi: 10.1016/0009-8981(77)90018-3. [DOI] [PubMed] [Google Scholar]
  11. Chalmers R. A., Purkiss P., Watts R. W., Lawson A. M. Screening for organic acidurias and amino acidopathies in newborns and children. J Inherit Metab Dis. 1980;3(2):27–43. doi: 10.1007/BF02312520. [DOI] [PubMed] [Google Scholar]
  12. Chalmers R. A., Watts R. W. The quantitative extraction and gas-liquid chromatographic determination of organic acids in urine. Analyst. 1972 Dec;97(161):958–967. doi: 10.1039/an9729700958. [DOI] [PubMed] [Google Scholar]
  13. Fernandes J., Blom W. The intravenous L-alanine tolerance test as a means for investigating gluconeogenesis. Metabolism. 1974 Dec;23(12):1149–1156. doi: 10.1016/0026-0495(74)90031-6. [DOI] [PubMed] [Google Scholar]
  14. Filla A., Butterworth R. F., Geoffroy G., Lemieux B., Barbeau A. Serum and platelet lipoamide dehydrogenase in Friedreich's ataxia. Can J Neurol Sci. 1978 Feb;5(1):111–114. [PubMed] [Google Scholar]
  15. Geoffroy G., Barbeau A., Breton G., Lemieux B., Aube M., Leger C., Bouchard J. P. Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci. 1976 Nov;3(4):279–286. doi: 10.1017/s0317167100025464. [DOI] [PubMed] [Google Scholar]
  16. Huang Y. S., Nestruck A. C., Barbeau A., Bouchard J. P., Davignon J. Plasma lipids and lipoproteins in Friedreich's ataxia and familial spastic ataxia--evidence for an abnormal composition of high density lipoproteins. Can J Neurol Sci. 1978 Feb;5(1):149–156. [PubMed] [Google Scholar]
  17. Jones S. J., Baraitser M., Halliday A. M. Peripheral and central somatosensory nerve conduction defects in Friedreich's ataxia. J Neurol Neurosurg Psychiatry. 1980 Jun;43(6):495–503. doi: 10.1136/jnnp.43.6.495. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. KIND P. R., KING E. J. Estimation of plasma phosphatase by determination of hydrolysed phenol with amino-antipyrine. J Clin Pathol. 1954 Nov;7(4):322–326. doi: 10.1136/jcp.7.4.322. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Kark R. A., Blass J. P., Engel W. K. Pyruvate oxidation in neuromuscular diseases. Evidence of a genetic defect in two families with the clinical syndrome of Friedreich's ataxia. Neurology. 1974 Oct;24(10):964–971. doi: 10.1212/wnl.24.10.964. [DOI] [PubMed] [Google Scholar]
  20. Kark R. A., Rodriguez-Budelli M., Blass J. P. Evidence for a primary defect of lipoamide dehydrogenase in Friedreich's ataxia. Adv Neurol. 1978;21:163–180. [PubMed] [Google Scholar]
  21. Lawson A. M., Chalmers R. A., Watts R. W. Urinary organic acids in man. I. Normal patterns. Clin Chem. 1976 Aug;22(8):1283–1287. [PubMed] [Google Scholar]
  22. Lemieux B., Barbeau A., Beroniade V., Shapcott D., Breton G., Geoffroy G., Melançon S. Amino acid metabolism in Friedreich's ataxia. Can J Neurol Sci. 1976 Nov;3(4):373–378. doi: 10.1017/s0317167100025622. [DOI] [PubMed] [Google Scholar]
  23. Melançon S. B., Potier M., Dallaire L., Fontaine G., Grenier B., Lemieux B., Geoffroy G., Barbeau A. Lipoamide dehydrogenase in Friedreich's ataxia fibroblasts. Can J Neurol Sci. 1978 Feb;5(1):115–118. [PubMed] [Google Scholar]
  24. Pelley J. W., Little G. H., Linn T. C., Hall F. F. Lipoamide dehydrogenase in serum: a preliminary report. Clin Chem. 1976 Feb;22(2):275–277. [PubMed] [Google Scholar]
  25. Purkiss P., Hughes R. C., Watts R. W. Screening for urinary oligosaccharides: a quantitative procedure. Clin Chem. 1978 Apr;24(4):669–674. [PubMed] [Google Scholar]
  26. Rodriguez-Budelli M., Kark P. Kinetic evidence for a structural abnormality of lipoamide dehydrogenase in two patients with Friedreich ataxia. Neurology. 1978 Dec;28(12):1283–1286. doi: 10.1212/wnl.28.12.1283. [DOI] [PubMed] [Google Scholar]
  27. Shapcott D., Melancon S., Butterworth R. F., Khoury K., Collu R., Breton G., Geoffroy G., Lemieux B., Barbeau A. Glucose and insulin metabolism in Friedreich's ataxia. Can J Neurol Sci. 1976 Nov;3(4):361–364. doi: 10.1017/s0317167100025609. [DOI] [PubMed] [Google Scholar]
  28. Stumpf D. A., Parks J. K. Friedreich ataxia. II. Normal kinetics of lipoamide dehydrogenase. Neurology. 1979 Jun;29(6):820–826. doi: 10.1212/wnl.29.6.820. [DOI] [PubMed] [Google Scholar]
  29. Williams D. G. Methods for the estimation of three vitamin dependent red cell enzymes. Clin Biochem. 1976 Dec;9(6):252–255. [PubMed] [Google Scholar]

Articles from Journal of Neurology, Neurosurgery, and Psychiatry are provided here courtesy of BMJ Publishing Group

RESOURCES