Hostname: page-component-848d4c4894-xm8r8 Total loading time: 0 Render date: 2024-06-19T20:04:07.015Z Has data issue: false hasContentIssue false

Familial Hyperbilirubinemia in Friedreich's Ataxia

Published online by Cambridge University Press:  18 September 2015

E. Hamel
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal, Hôtel-Dieu Hospital Montreal and Université de Montréal
D. Bedard
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal, Hôtel-Dieu Hospital Montreal and Université de Montréal
F. Laviolette
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal, Hôtel-Dieu Hospital Montreal and Université de Montréal
R. F. Butterworth
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal, Hôtel-Dieu Hospital Montreal and Université de Montréal
A. Barbeau*
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal, Hôtel-Dieu Hospital Montreal and Université de Montréal
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal, Quebec, Canada H2W 1R7
Rights & Permissions [Opens in a new window]

Summary:

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

The combined metabolic stresses of fasting and the intravenous injection of 50 mg nicotinic acid in Friedreich's ataxia resulted in the delineation of two sub-groups of responses. High bilirubin ataxics maintained abnormally elevated levels of bilirubin, while normal bilirubin ataxics behaved like the normal control group. It is postulated that this finding infers the possible linkage of the gene for Friedreich's ataxia and that for Gilbert's disease.

Type
Quebec Cooperative Study of Friedreich's Ataxia
Copyright
Copyright © Canadian Neurological Sciences Federation 1978

References

REFERENCES

Arias, I.M., Gartner, L. M., Cohen, M., Ben Ezzer, J. and Levi, A.J. (1969). Chronic non-hemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Am. J. Med., 47, 395410.Google Scholar
Bailey, A. and Robinson, D. (1977). Does Gilbert’s disease exist? Lancet, 1, 931933.Google Scholar
Barbeau, A., Breton, G., Lemieux, B. and Butterworth, R.F. (1976). Bilirubin metabolism — Preliminary Investigation. Can. J. Neurol. Sci., 53. 365372.Google Scholar
Billing, B.H., Williams, R. and Richards, T. G. (1964). Defect in hepatic transport of bilirubin in congenital hyperbilirubinemia: an analysis of plasma bilirubin disappearance curves. Clin. Sci., 27, 245257.Google Scholar
Dameshek, W. and Singer, K. (1969). Familial non-hemolytic jaundice Arch. Intern., 1, 550555.Google Scholar
Felsher, B.F., Richard, D. and Redeker, A. G. (1970). The reciprocal relation between caloric intake and the degree of hyperbilirubinemia in Gilbert’s syndrome. New Engl. J. Med., 283, 170175.Google Scholar
Fromke, V.L. and Miller, D. (1972). Constitutional hepatic dysfunction (CHD; Gilbert’s disease); a review with special reference to a characteristic increase and prolongation of the hyperbilirubinemic response to nicotinic acid. Medicine, 51, 451464.CrossRefGoogle ScholarPubMed
Gilbert, A., Castaigne, J. and Lereboullet, P. (1900). De l’ictère familial. Bull. Mem. Soc. Med. Hop. Paris, 17, 948.Google Scholar
Gilbert, A. and Lereboullet, P. (1901) . La cholémie simple familiale. Gaz. Hebd. Med. Chir., 49, 880.Google Scholar
Gilbert, A. and Lereboullet, P. (1902) . La cholémie simple familiale. Gaz. Hebd, Med. Chir., 49, 880.Google Scholar
Gydell, K. (1959). Nicotinic acid induced hyperbilirubinemia and hypersideremia. Acta Med. Scand., 164, 305.Google Scholar
Malloy, H.T. and Evelyn, K.A. (1937). The determination of bilirubin with a photoelectric colorimeter. J. Biol. Chem., 119, 481485.Google Scholar
Smith, P.M., Middleton, J.E. and Williams, R. (1967). Studies on the familial incidence and clinical history of patients with chronic unconjugated hyper-bilirubinemia. Gut, 8, 449455.Google Scholar
Stefanini, M. (1949). The hyperbilirubinemic effect of sodium nicotinate. J. Lab. Clin. Med., 34, 10391041.Google Scholar
With, T.K. (1954). Diurnal variations of serum bilirubin. In: Biology of Bile pigments, Arne-Frost-Hansen, Copenhagen, pp. 207210.Google Scholar