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Austin J Stumpf D (1971)
Lipid Storage Diseases: Enzymatic Defects and Clinical Implications
Austin J (1962)
Ultrastructure and Metabolism of the Nervous System, 40
B. Volk, S. Aronson (1972)
Sphingolipids, Sphingolipidoses and Allied Disorders
J. Hardin, S. Spicer (1971)
ULTRASTRUCTURAL LOCALIZATION OF DIALYZED IRON-REACTIVE MUCOSUBSTANCE IN RABBIT HETEROPHILS, BASOPHILS, AND EOSINOPHILSThe Journal of Cell Biology, 48
S. Thieffry, G. Lyon, P. Maroteaux (1966)
[Metachromatic leukdystrophy (Sulfatidosis) and mucopolysaccharidosis associated in the same patient].Revue neurologique, 114 3
J. Austin, A. Balasubramanian, T. Pattabiraman, S. Saraswathi, D. Basu, B. Bachhawat (1963)
A CONTROLLED STUDY OF ENZYMIC ACTIVITIES IN THREE HUMAN DISORDERS OF GLYCOLIPID METABOLISM *Journal of Neurochemistry, 10
D. Stumpf, E. Neuwelt, J. Austin, P. Kohler (1971)
Metachromatic leukodystrophy (MLD). X. Immunological studies of the abnormal sulfatase A.Archives of neurology, 25 5
M. Bischel, J. Austin, M. Kemény, C. Hubble, R. Lear (1966)
Separation and identification of acid polysaccharides by thin-layer chromatography.Journal of chromatography, 21 1
Austin J (1963)
Brain Lipids and Lipoproteins, and the Leucodystrophies
A. French, J. Warren (1967)
Properties of steroid sulphatase and arylsulphatase activities of human placenta.The Biochemical journal, 105 1
J. Austin, D. Armstrong, L. Shearer (1965)
Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity: a controlled study of brain, liver and kidney in four patients with metachromatic leukodystrophy (MLD).Archives of neurology, 13 6
R. Brady, J. O'brien, R. Bradley, A. Gal (1970)
Sphingolipid hydrolases in brain tissue of patients with generalized gangliodosis.Biochimica et biophysica acta, 210 1
D. Bainton, M. Farquhar (1968)
DIFFERENCES IN ENZYME CONTENT OF AZUROPHIL AND SPECIFIC GRANULES OF POLYMORPHONUCLEAR LEUKOCYTESThe Journal of Cell Biology, 39
et al: Liver glycolipids Moser H (1972)
Advances in Experimental Medicine and Biology, 19
Austin J (1973)
The Cellular and Molecular Basis of Neurologic Disease
et al Rampini S (1970)
Die Kombination von metachromatischer Leukodystrophie und Mukopolysaccharidose als selbstandiges Krankheitsbild (Mukosulfatidose)Helv Paediatr Acta, 25
Suzuki D (1972)
Handbook of Neurochemistry, 7
N. Ferrante, G. Neri, M. Neri, W. Hogsett (1972)
Measurement of Urinary Glycosaminoglycans with Quaternary Ammonium Salts : An Extension of the MethodConnective Tissue Research, 1
Austin J (1957)
Metachromatic form of cerebral sclerosis: II. Diagnosis during life by isolation of metachromatic lipids from urineNeurology, 7
Alder A (1950)
Konstitutionell bedingte Granulationsveränderungen der Leukocyten und KnochenuveranderungenSchweiz Med Wochenschr, 80
Yokoi S Austin J (1967)
A combined technique of histochemistry, microdissection, and thinlayer chromatography applicable to lipid storage diseasesFolia Psychiatr Neurol Jap, 21
Austin J (1965)
Medical Aspects of Mental Retardation
A. Roy, P. Trudinger (1970)
The Biochemistry of Inorganic Compounds of Sulphur
Bove KE (1971)
Histochemistry and ultrastructure of the Alder-Reilly anomaly, abstractedProc Am Assoc Pathol Bacteriol, 50
Austin J Stumpf D
Sulfatase B deficiency in the Maroteaux-Lamy syndrome (muccopolysaccharidosis-VI)Trans Am Neurol Assoc
Farquhar MG Bainton DF (1968)
Differences in enzyme content of azurophil and specific granules of polymorphonuclear leukocytes: I. Histochemical staining of bone marrow smearsJ Cell Biol, 39
M. Bischel, J. Austin, M. Kemény (1966)
Metachromatic leukodystrophy (MLD). VII. Elevated sulfated acid polysaccharide levels in urine and postmortem tissues.Archives of neurology, 15 1
Matalon R Dorfman A (1972)
The Metabolic Basis of Inherited Disease
Lyon G Thieffry S (1966)
Leucodystrophie metachromatique (sulfatidose) et mucopolysaccharidose associees chez un meme maladeRev Neurol, 114
A. Fonio (1950)
[A new method of determining the effects of anticoagulants in vivo and in vitro].Schweizerische medizinische Wochenschrift, 80 41
Austin Jh (1962)
Recent studies in the metachromatic and globoid forms of diffuse sclerosis.Research publications - Association for Research in Nervous and Mental Disease, 40
M. Mossakowski, G. Mathieson, J. Cumings (1961)
On the relationship of metachromatic leucodystrophy and amaurotic idiocy.Brain : a journal of neurology, 84
Austin J (1958)
Observations in metachromatic leucoencephalopathyTrans Am Neurol Assoc, 83
Austin J (1957)
Metachromatic form of diffuse cerebral sclerosis: I. Diagnosis during life by urine sediment examinationNeurology, 7
Abstract Multiple sulfatase deficiency form of metachromatic leukodystrophy (MSD-MLD) occurred in a young boy. In blood smears, leukocyte Alder-Reilly granulation abnormality aided diagnosis. Abnormal granules persisted in neutrophils in tissue culture, suggesting metabolic error intrinsic to the leukocytes. Normal eosinophil granules, originally absent, tended first to appear only in tissue culture. Autopsy tissues showed multiple deficiencies of arylsulfatases A, B, and C. Recent chemical analyses of brain showed increased dermatan sulfate; this, along with deficient sulfatase B activity, also occurs in mucopolysaccharidosis type VI. Sulfatase B deficiency may imply an O-sulfatase deficiency which could explain increased O-sulfated molecules in MSD-MLD. Family pedigree was consistent with autosomal recessive inheritance. Sulfatase A deficiency appears to be related to a qualitative change in sulfatase A enzyme itself. The same type of molecular error may also be present in sulfatases B and C. References 1. Austin J: Mental retardation: Metachromatic leucodystrophy , in Carter CH: Medical Aspects of Mental Retardation . Springfield, Ill, Charles C Thomas Publisher, 1965, pp 768-812. 2. Bischel M, Austin J, Kemeny H: Metachromatic leukodystrophy: VII. Elevated sulfated acid polysaccharide levels in urine and postmortem tissues . Arch Neurol 15:13-28, 1966.Crossref 3. Rampini S, et al: Die Kombination von metachromatischer Leukodystrophie und Mukopolysaccharidose als selbstandiges Krankheitsbild (Mukosulfatidose) . Helv Paediatr Acta 25: 436-461, 1970. 4. Austin J: Observations in metachromatic leucoencephalopathy . Trans Am Neurol Assoc 83:149-152, 1958. 5. Austin J: Recent studies in the metachromatic and globoid forms of diffuse sclerosis , in Ultrastructure and Metabolism of the Nervous System . Association for Research in Nervous and Mental Disease, Research Publications. Baltimore, Williams & Wilkins Co, 1962, vol 40, pp 189-221. 6. Austin J, et al: A controlled study of enzymic activities in three human disorders of glycolipid metabolism . J Neurochem 10:805-816, 1963.Crossref 7. Austin J: Recent studies in the metachromatic and globoid body forms of diffuse sclerosis , in Folchi-Pi J, Bauer H (eds): Brain Lipids and Lipoproteins, and the Leucodystrophies . Amsterdam, Elsevier Press Inc, 1963, pp 120-133. 8. Austin J, Armstrong D, Shearer L: Metachromatic form of diffuse cerebral sclerosis: V. The nature and significance of low sulfatase activity: A controlled study of brain, liver, and kidney in four patients with metachromatic leukodystrophy (MLD) . Arch Neurol 13:593-614, 1965.Crossref 9. Stumpf D, et al: Metachromatic leukodystrophy (MLD): X. Immunological studies of the abnormal sulfatase A . Arch Neurol 25:427-431, 1971.Crossref 10. Austin J: Metachromatic form of diffuse cerebral sclerosis: I. Diagnosis during life by urine sediment examination . Neurology 7:415-426, 1957.Crossref 11. Austin J: Metachromatic form of cerebral sclerosis: II. Diagnosis during life by isolation of metachromatic lipids from urine . Neurology 7: 716-723, 1957.Crossref 12. Austin J: Some recent findings in leukodystrophies and in gargoylism, in Aronson S, Volk B (eds): Inborn Disorders of Sphingolipid Metabolism: Proceedings of the Third International Symposium on the Cerebral Sphingolipidoses. New York, Pergamon Press Inc, 1966, pp 359-387. 13. Thieffry S, Lyon G, Maroteaux P: Leucodystrophie metachromatique (sulfatidose) et mucopolysaccharidose associees chez un meme malade . Rev Neurol 114:193-200, 1966. 14. Murphy J, et al: A patient with deficiency of arylsulfatases A, B, C, and steroid sulfatase, associated with storage of sulfatide, cholesterol sulfate and glycosaminoglycans , in Bernsohn J, Grossman H (eds): Lipid Storage Diseases: Enzymatic Defects and Clinical Implications . New York, Academic Press Inc, 1971, pp 67-110. 15. Moser H, et al: Liver glycolipids, steroid sulfates and steroid sulfatases in a form of metachromatic leukodystrophy associated with multiple sulfatase deficiencies, in Volk B, Aronson S (eds): Sphingolipids, Sphingolipidoses and Allied Disorders , vol 19 of Advances in Experimental Medicine and Biology . New York, Plenum Press Inc, 1972, pp 429-450. 16. Mossakowski M, Mathieson G, Cumings J: On the relationship of metachromatic leucodystrophy and amaurotic idiocy . Brain 84:585-604, 1961.Crossref 17. Luthy F, et al: Amaurotic idiocy with metachromatic change in the white matter, in Proceedings of the Fifth International Congress on Neuropathology, International Congress Series No. 100. Zurich, Switzerland, Excerpta Medica Foundation, 1965, p 125. 18. Alder A: Konstitutionell bedingte Granulationsveränderungen der Leukocyten und Knochenuveranderungen . Schweiz Med Wochenschr 80:1095-1098, 1950. 19. Bainton DF, Farquhar MG: Differences in enzyme content of azurophil and specific granules of polymorphonuclear leukocytes: I. Histochemical staining of bone marrow smears . J Cell Biol 39:286-298, 1968.Crossref 20. Bove KE: Histochemistry and ultrastructure of the Alder-Reilly anomaly, abstracted . Proc Am Assoc Pathol Bacteriol 50, 1971. 21. Hardin J, Spicer S: Ultrastructural localization of dialyzed iron-reactive mucosubstance in rabbit heterophils, basophils, and eosinophils . J Cell Biol 48:368-386, 1971.Crossref 22. Di Ferrante N, et al: Measurement of urinary glycosaminoglycans with quaternary ammonium salts: An extension of the method . Conn Tissue Res 1:93-101, 1972.Crossref 23. Austin J, Yokoi S: A combined technique of histochemistry, microdissection, and thinlayer chromatography applicable to lipid storage diseases . Folia Psychiatr Neurol Jap 21:31-39, 1967. 24. Suzuki D: Neurochemical aspects of mucopolysaccharides , in Lajtha A (ed): Handbook of Neurochemistry . New York, Plenum Press Inc, 1972, vol 7, pp 17-32. 25. Bischel M, et al: Separation and identification of acid polysaccharides by thin-layer chromatography . J Chromatogr 21:40-45, 1966.Crossref 26. Austin J: Some mechanisms of disease in metachromatic leukodystrophy , in Goldensohn E. Appel S, Shy G (eds): The Cellular and Molecular Basis of Neurologic Disease . Philadelphia, Lea & Febiger, 1973, chap 47. 27. Stumpf D, Austin J: Qualitative and quantitative differences in sulfatase A in different forms of classical metachromatic leukodystrophy , in Bernsohn J, Grossman H (eds): Lipid Storage Diseases: Enzymatic Defects and Clinical Implications . New York, Academic Press Inc, 1971, pp 203-221. 28. Stumpf D, Austin J: Sulfatase B deficiency in the Maroteaux-Lamy syndrome (muccopolysaccharidosis-VI) . Trans Am Neurol Assoc , to be published. 29. Dorfman A, Matalon R: The mucopolysaccharidoses , in Stanbury J, Wyngaarden J, Fredrickson D (eds): The Metabolic Basis of Inherited Disease . New York, McGraw-Hill Book Co Inc, 1972, pp 1218-1272. 30. Roy A, Trudingen P: The Biochemistry of Inorganic Compounds of Sulfur . London, Cambridge University Press, 1970. 31. French A, Warren J: Properties of steroid sulphatase and arylsulfatase activities of human placenta . Biochem J 105:233-241, 1967. 32. Brady R, et al: Sphingolipid hydrolases in brain tissue of patients with generalized gangliosidosis . Biochim Biophys Acta 210:193-195, 1970.Crossref
Archives of Neurology – American Medical Association
Published: Apr 1, 1973
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