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K. Jellinger, F. Seitelberger (2004)
Spongy glio-neuronal dystrophy in infancy and childhoodActa Neuropathologica, 16
H. Bookelman, J. Trijbels, R. Sengers, A. Janssen (1978)
Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens.Biochemical medicine, 19 3
O. Lowry, N. Rosebrough, A. Farr, R. Randall (1951)
Protein measurement with the Folin phenol reagent.The Journal of biological chemistry, 193 1
Seubert W Henning HV (1964)
Zum Mechanismus der Gluconeogenese und ihrer Steuerung: I. Quantiative Bestimmung der Pyruvatcarboxylase in Rohextracten der RattenleberBiochem Z, 340
J. Willems, L. Monnens, J. Trijbels, J. Veerkamp, A. Meyer, K. Dam, U. Haelst (1977)
Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue.Pediatrics, 60 6
K. Suzuki, I. Rapin (1969)
Giant neuronal mitochondria in a infant with microcephaly and seizure disorder.Archives of neurology, 20 1
H. Bookelman, J. Trijbels, R. Sengers, A. Janssen, J. Veerkamp, A. Stadhouders (1978)
Pyruvate oxidation in rat and human skeletal muscle mitochondria.Biochemical medicine, 20 3
Y. Shapira, S. Harel, A. Russell (1977)
Mitochondrial encephalomyopathies: a group of neuromuscular disorders with defects in oxidative metabolism.Israel journal of medical sciences, 13 2
R. Luft, D. Ikkos, G. Palmieri, L. Ernster, B. Afzelius (1962)
A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study.The Journal of clinical investigation, 41
S. Cooperstein, A. Lazarow (1951)
A microspectrophotometric method for the determination of cytochrome oxidase.The Journal of biological chemistry, 189 2
S. DiMauro, J. Mendell, Z. Sahenk, D. Bachman, A. Scarpa, R. Scofield, C. Reiner (1980)
Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency.Neurology, 30 8
Baltassat P David M (1975)
Poliodystrophie c�r�brale infantile (maladie d'Alpers) chez un nourisson avec hyperlactacid�mie et anomalie de la pyruvate carboxylase h�patiqueArch Fr Pediatr, 32
Jouvet-Telinge A Tommasi M (1977)
Poliodystrophie c�r�brale infantile d'Alpers: Un cas avec anomalie de la pyruvate-carboxylase h�patiqueAnn Anat Pathol, 22
Harel S Shapira Y (1977)
Mitochondrial encephalomyopathies: A group of neuromuscular disorders with defects in oxidative metabolismIsr J Med Sei, 13
Y. Shapira, S. Cederbaum, P. Cancilla, D. Nielsen, B. Lippe (1975)
Familial poliodystrophy, mitochondrial myopathy, and lactate acidemiaNeurology, 25
B. Alpers (1931)
DIFFUSE PROGRESSIVE DEGENERATION OF THE GRAY MATTER OF THE CEREBRUMJournal of Nervous and Mental Disease, 25
J. Morgan-Hughes, P. Darveniza, D. Landon, J. Land, J. Clark (1979)
A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activityJournal of the Neurological Sciences, 43
Darveniza P Morgan-Hughes JA (1979)
A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activityJ Neural Sei, 43
B. Alpers (1960)
PROGRESSIVE CEREBRAL DEGENERATION OF INFANCYThe Journal of Nervous and Mental Disease, 130
J. Strömme, O. Borud, P. Moe (1976)
Fatal Lactic Acidosis in a Newborn Attributable to a Congenital Defect of Pyruvate DehydrogenasePediatric Research, 10
Alpers BJ (1931)
Diffuse progressive degeneration of the gray matter of the cerebrumArch Neurol Psychiatry, 25
M. Utter, D. Keech (1963)
PYRUVATE CARBOXYLASE. I. NATURE OF THE REACTION.The Journal of biological chemistry, 238
B. Atkin, N. Buist, M. Utter, A. Leiter, B. Banker (1979)
Pyruvate Carboxylase Deficiency and Lactic Acidosis in a Retarded Child without Leigh's DiseasePediatric Research, 13
H. Willems, T. Kort, F. Trijbels, L. Monnens, J. Veerkamp (1978)
Determination of pyruvate oxidation rate and citric acid cycle activity in intact human leukocytes and fibroblasts.Clinical chemistry, 24 2
Lerman P Sandbank U (1972)
Progressive cerebral poliodystrophy: Alpers' disease: Disorganized giant neuronal mitochondria on electron microscopyJ Neurol Neurosurg Psychiatry, 35
R. Parvin, Shri Pande (1977)
Microdetermination of (-)carnitine and carnitine acetyltransferase activity.Analytical biochemistry, 79 1-2
U. Sandbank, P. Lerman (1972)
Progressive cerebral poliodystrophy – Alpers' diseaseJournal of Neurology, Neurosurgery & Psychiatry, 35
Z. Hart, C. Chang, E. Perrin, J. Neerunjun, R. Ayyar (1977)
Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia.Archives of neurology, 34 3
A. Greenhouse, K. Neubuerger (1964)
THE SYNDROME OF PROGRESSIVE CEREBRAL POLIODYSTROPHY.Archives of neurology, 10
Abstract • Progressive infantile poliodystrophy (Alpers' disease) is associated with abnormalities in pyruvate metabolism or in cell mitochondria. A 3-year-old boy had a severe and rapidly progressive neurologic disorder characterized by psychomotor retardation, tetraparesis, ataxia, and myoclonic jerks, the illness being exacerbated during periods of infection. Lactate concentration in CSF was elevated. Histopathologic studies revealed lipid storage in liver and muscle. Autopsy showed a progressive infantile poliodystrophy. Mitochondrial abnormalities were found in heart muscle. Biochemical studies of muscle and liver tissue suggested a disturbance in nicotinamide adenine dinucleotide (reduced form) oxidation. References 1. Luft R, Ikkos D, Palmieri G, et al: A case of severe hypermetabolism of nonthyroid origin and a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical and morphological study . J Clin Invest 1962;41:1776-1804.Crossref 2. DiMauro S, Mendell JR, Sahenk Z, et al: Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency . Neurology 1980;30:795-804.Crossref 3. Shapira Y, Cederbaum SD, Cancilla PA, et al: Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia . Neurology 1975;25:614-621.Crossref 4. Hart ZH, Chang C-H, Perrin EVD, et al: Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia . Arch Neurol 1977;34:180-185.Crossref 5. Tommasi M, Jouvet-Telinge A, Kopp N, et al: Poliodystrophie cérébrale infantile d'Alpers: Un cas avec anomalie de la pyruvate-carboxylase hépatique . Ann Anat Pathol 1977;22:337-343. 6. David M, Baltassat P, Dinjon B, et al: Poliodystrophie cérébrale infantile (maladie d'Alpers) chez un nourisson avec hyperlactacidémie et anomalie de la pyruvate carboxylase hépatique . Arch Fr Pediatr 1975;32:580. 7. Willems HL, de Kort TFM, Trijbels FJM, et al: Determination of pyruvate oxidation rate and citric acid cycle activity in intact human leucocytes and fibroblasts . Clin Chem 1978;24:200-203. 8. Willems JL, Monnens LAH, Trijbels JMF, et al: Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue . Pediatrics 1977;60:850-857. 9. Utter MF, Keech DB: Pyruvate carboxylase: I. Nature of the reaction . J Biol Chem 1963;238:2603-2608. 10. Henning HV, Seubert W: Zum Mechanismus der Gluconeogenese und ihrer Steuerung: I. Quantiative Bestimmung der Pyruvatcarboxylase in Rohextracten der Rattenleber . Biochem Z 1964;340:160-170. 11. Bookelman H, Trijbels JMF, Sengers RCA, et al: Pyruvate oxidation in rat and human skeletal muscle mitochondria . Biochem Med 1978;20:395-403.Crossref 12. Cooperstein SJ, Lazorow A: Microspectrophotometric method for determination of cytochrome oxidase . J Biol Chem 1951;189:665-670. 13. Parvin R, Pande SV: Microdetermination of (—) carnitine and carnitine acetyltransferase activity . Anal Biochem 1977;79:190-201.Crossref 14. Bookelman H, Trijbels JMF, Sengers RCA, et al: Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens . Biochem Med 1978;19:366-373.Crossref 15. Lowry OH, Rosebrough NJ, Farr AL, et al: Protein measurement with the folin phenol reagent . J Biol Chem 1951;193:265-275. 16. Morgan-Hughes JA, Darveniza P, Landon DN, et al: A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity . J Neural Sei 1979;43:27-46.Crossref 17. Alpers BJ: Diffuse progressive degeneration of the gray matter of the cerebrum . Arch Neurol Psychiatry 1931;25:469-505.Crossref 18. Alpers BJ: Progressive cerebral degeneration in infancy . J Nerv Ment Dis 1960;130:442-448.Crossref 19. Greenhouse AH, Neubuerger KT: The syndrome of progressive cerebral poliodystrophy . Arch Neurol 1964;10:47-57.Crossref 20. Jellinger K, Seitelberger F: Spongy glioneuronal dystrophy in infancy and childhood . Acta Neuropathol 1970;16:125-140.Crossref 21. Atkin BM, Buist NRM, Utter MF, et al: Pyruvate carboxylase deficiency and lactic acidosis in a retarded child without Leigh's disease . Pediatr Res 1979;13:109-116.Crossref 22. Strömme JH, Borud O, Moe PJ: Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase . Pediatr Res 1976;10:60-66.Crossref 23. Sandbank U, Lerman P: Progressive cerebral poliodystrophy: Alpers' disease: Disorganized giant neuronal mitochondria on electron microscopy . J Neurol Neurosurg Psychiatry 1972;35:749-755.Crossref 24. Suzuki K, Rapin I: Giant neuronal mitochondria in an infant with microcephaly and seizure disorder . Arch Neurol 1969;20:62-72.Crossref 25. Shapira Y, Harel S, Russell A: Mitochondrial encephalomyopathies: A group of neuromuscular disorders with defects in oxidative metabolism . Isr J Med Sei 1977;13:161-164.
Archives of Neurology – American Medical Association
Published: Dec 1, 1981
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