Evidence for forebrain cholinergic neuronal loss in congenital ornithine transcarbamylase deficiency

Metabolic Brain Disease

Volumn 15, Issue 1, 2000, Pages 83-91

  Butterworth, Roger F ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

Author keywords

Acetylcholine; Ammonia hyperammonemia; Choline acetyltransferase; Cholinergic system; Muscarinic cholinergic receptor; Ornithine transcarbamylase deficiency; Urea cycle

Indexed keywords

ACETYL COENZYME A; CHOLINE; CHOLINE ACETYLTRANSFERASE; LEVACECARNINE; ORNITHINE CARBAMOYLTRANSFERASE;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; ASTROCYTOSIS; BRAIN ATROPHY; CHOLINERGIC NERVE CELL; COGNITIVE DEFECT; CONTROLLED STUDY; ENERGY METABOLISM; ENZYME DEFICIENCY; ENZYME SYNTHESIS; FAILURE TO THRIVE; MENTAL DEFICIENCY; MOUSE; MUSCLE HYPOTONIA; NEUROPATHOLOGY; NONHUMAN; SEIZURE;

ANIMALS; BRAIN; CELL DEATH; CHOLINE O-ACETYLTRANSFERASE; DISEASE MODELS, ANIMAL; HUMANS; NEURONS; ORNITHINE CARBAMOYLTRANSFERASE; PROSENCEPHALON;

ANIMALIA;

EID: 0033919510     PISSN: 08857490     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1011165819480     Document Type: Article

References (35)

1. Alberch, J., Perez-Navarro, E., Calvao, N.E., Marssal, J. (1993). Trophic factors protect neostriatal cholinergic neurons against quinolinic acid lesions. Soc. Neurosci. Abstr. 19: 27.12.
2. Araujo, D.M., Lapchak, P.A., Robitaille, Y., Gauthier, S. and Quirion, R. (1988). Differential alterations of various cholinergic markers in cortical and subcortical regions of human brain in Alzheimer's disease. J. Neurochem 50: 1914-1923.
3. Bakker, M.H.M. and Foster, A.C. (1991). An investigation of the mechanisms of delayed neuron degeneration caused by direct injection of quinolinic acid into the rat striatum in vivo. Neuroscience 42: 387-395.
4. Bassi, S., Ferrarese, C., Finola, M.G., Frattola, L., Iannucelli, M., Meregalli, S. et al. (1988) L-acetyl-carnitine in Alzheimer Disease (AD) and Senile Dementia of the Alzheimer Type (SDAT), in Senile Dementias (Second International Symposium) (A. Agnoli, J. Cahn, N. Larsen and R. Mayeux eds.), John Libbey Eurotext Paris, pp. 461-466.
5. Batshaw, M.L., Robinson, M.B., Hyland, K., Djali, S. and Heyes, M.P. (1993). Quinolinic acid in children with congenital hyperammonemia. Ann. Neurol. 34: 676-681.
6. Batshaw, M.L., Hyman, S.L., Coyle, J.T., Robinson, M.B., Qureshi, I.A., Mellits, E.D. and Quaskey, S. (1988). Effect of sodium benzoate and sodium phenylacetate on brain serotonin turnover in the ornithine transcarbamylase-deficient sparse-fur mouse. Pediatr. Res. 23: 368-374.
7. Batshaw, M.L., Robinson, M.B., Ye, X., Pabin, C., Daikhin, Y., Burton, D.K., Wilson, J.M., Yudkoff, M. (1999). Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency. Pediatr. Res. 46: 588-593.
8. Brusilow, S.W. and Horwich, A.L. (1995). Urea cycle enzymes. In (C.R. Scriver, A.L. Beaudet, W.S. Sly et al. (eds). The Metabolic and Molecular Basis of Inherited Disease, 7th Ed. New York: McGraw-Hill Information Services, pp. 1187-1232.
9. Dolman, C.L., Clasen, R.A., and Dorovini-Zis, K. (1988). Severe cerebral damage in ornithine transcarbamylase deficiency. Clin. Neuropathol. 7: 10-15.
10. Filloux, F., Townsend, J.J. and Leonard, C. (1986). Ornithine transcarbamylase deficiency: neuropathologic changes acquired in utero. J. Pediat. 108: 942-945.
11. Harding, B.N., Leonard, J.V., and Erdohazi, M. (1984). Ornithine transcarbamylase deficiency: neuropathological study. Eur. J. Pediatr. 141:215-220.
12. Harper, C.G. and Butterworth, R.F. (1997). Nutritional and Metabolic Disorders in (D.I. Graham and P.L. Lantos, eds) Greenfield's Neuropathology, Arnold London, UK, pp. 601-655.
13. Hasegawa, T., Tzakis, A.G., Todo, S., Reyes, J., Nour, B., Finegold, D.N. et al. (1995). Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy. J. Pediat. Surg. 30: 863-865.
14. Hopkins, K.J., McKean, J., Mervis, R.F., Oster-Granite, ML. (1998). Dendritic alterations in cortical pyramidal cells in the sparse fur mouse. Brain Res. 797: 167-172.
15. Kendall, B.E., Kingsley, D.P.E., Leonard, J.V., Lingam, S., and Oberholzer, V.G. (1983). Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency. J. Neurol. Neurosurg. Psychiatry 46: 28-34.
16. Lai, J.C.K.. and Cooper, A.J.L. (1986). Brain α-ketoglutarate dehydrogenase complex: kinetic properties, regional distribution and effects of inhibitors. J. Neurochem 47: 1376-1386.
17. 2 muscarinic receptors in the cerebral cortex in Alzheimer's disease and experimental cholinergic denervation. Science 228: 1115-1117.
18. Msall, M. Batshaw, M.L., Suss, R., Brusilow, S.W., and Mellits, E.D. (1984). Neurologic outcome in children with inborn errors of urea synthesis. New Engl. J. Med. 310: 1500-1505.
19. Perry, E.K., Curtis, M., Dick, D.J., Candy, J.M., Atack, J.R., Bloxham, C.A., et al. (1985). Cholinergic correlates of cognitive impairment in Parkinson's disease: comparisons with Alzheimer's disease. J. Neurol. Neurosurg. Psychiatry 48: 413-421.
20. Qureshi, I.A. (1992). Animal models of hereditary hyperammonemias. In: (A. Boulton, G. Baker and R. Butterworth, eds). Neuromethods, Vol. 22: Animal Models of Neurological Disease, II, Humana Press, Clifton, J.J., pp. 329-356.
21. Rama Rao, K.V., Qureshi, I.A. (1999). Reduction in the MK-801 binding sites of the NMDA sub-type of glutamate receptor in a mouse model of congenital hyperammonemia: prevention by acetyl-L-carnitine. Neuropharmacology 38: 383-394.
22. Ratnakumari, L., Qureshi, I.A., and Butterworth, R.F. (1992). Effects of congenital hyperammonemia on the cerebral and hepatic levels of the intermediates of energy metabolism in spf mice. Biochem. Biophys. Res. Commun. 184:746-751.
23. Ratnakumari, L., Qureshi, I.A., and Butterworth, R.F. (1994a). Regional amino acid neurotransmitter changes in brains of spf/Y mice with congenital ornithine transcarbamylase deficiency. Metab. Brain Dis. 9: 43-51.
24. Ratnakumari, L., Qureshi, I.A., and Butterworth, R.F. (1994b). Evidence for cholinergic neuronal loss in brain in congenital ornithine transcarbamylase deficiency. Neurosci. Lett. 178: 63-65.
25. Ratnakumari, L., Qureshi, I.A., Maysinger, D., and Butterworth, R.F. (1995a). Developmental deficiency of the cholinergic system in congenitally hyperammonemic spf mice: effect of acetyl-L-carnitine. J. Pharmacol. Exp. Ther. 274: 437-443.
26. 3H]MK801 binding sites in brain in congenital ornithine transcarbamylase deficiency. Metab. Brain Dis 10: 249-255.
27. 2 receptor changes in congenital ornithine transcarbamylase deficiency. Pediat. Res. 40: 25-28.
28. 1A receptors are altered in the congenitally hyperammonemic sparse fur mouse. J. Neurochem. 58: 1016-1022.
29. Robinson, M.B., Heyes, M.P., Anegawa, N.J., Gorry, E., Djali, S., Mellits, E.D. and Batshaw, M.L. (1992b). Quinolinate in brain and cerebrospinal fluid in rat models of congenital hyperammonemia. Pediatr. Res. 32: 483-488.
30. Schwab, S., Schwarz, S., Mayatepek, E., Hoffmann, G.F. (1999). Recurrent brain edema in ornithine-transcarbamylase deficiency. J. Neurol. 246: 609-611.
31. Takayanagi, M., Ohtake, A., Ogura, N., Nakajima, H., and Hoshino, M. (1984). A female case of ornithine transcarbamylase deficiency with marked computed tomographic abnormalities of the brain. Brain Dev. 6: 58-60.
32. Todo, S., Starzl, T.E., Tzakis, A. Benkov, K.J., Kalousek, F., Saheki, T., Tanikawa, K. and Fenton, W.A. (1992). Orthotopic liver transplantation for urea cycle enzyme deficiency. Hepatology 15: 419-422.
33. Tucek, S. (1985). Regulation of acetylcholine synthesis in the brain. J. Neurochem. 44: 11-24.
34. Veres, G., Gibbs, R.A., Scherer, S.E., and Caskey, C.T. (1987). The molecular basis of the sparse fur mutation. Science 237: 415-417.
35. Ye, X., Robinson, M.B., Batshaw, M.L., Furth, E.E., Smith, I., and Wilson, J.M. (1996). Prolonged metabolic correction in adult ornithine transcarbamylase-deficient mice with adenoviral vectors. J. Biol. Chem. 271: 3639-3646.